Incidental Mutation 'R5797:Kalrn'
| ID |
447295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kalrn
|
| Ensembl Gene |
ENSMUSG00000061751 |
| Gene Name |
kalirin, RhoGEF kinase |
| Synonyms |
2210407G14Rik, Hapip, E530005C20Rik, LOC224126 |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33969073-34573532 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34212249 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1125
(Y1125C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076810]
[ENSMUST00000089655]
[ENSMUST00000114947]
[ENSMUST00000114949]
[ENSMUST00000114953]
[ENSMUST00000114954]
[ENSMUST00000114960]
[ENSMUST00000114961]
[ENSMUST00000151491]
|
| AlphaFold |
no structure available at present |
| PDB Structure |
Solution structure of SH3 domain of mouse Kalirin-9a protein [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076810
AA Change: Y1125C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076088
Gene: ENSMUSG00000061751
AA Change: Y1125C
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
20 |
159 |
2.22e-30 |
SMART |
|
SPEC
|
173 |
289 |
5.32e-9 |
SMART |
|
SPEC
|
295 |
397 |
1.19e-11 |
SMART |
|
SPEC
|
400 |
515 |
1.83e0 |
SMART |
|
SPEC
|
521 |
623 |
9.84e-13 |
SMART |
|
SPEC
|
626 |
748 |
2.74e-2 |
SMART |
|
SPEC
|
875 |
976 |
8.11e-14 |
SMART |
|
SPEC
|
1106 |
1208 |
4.7e-10 |
SMART |
|
RhoGEF
|
1258 |
1428 |
3.6e-56 |
SMART |
|
PH
|
1442 |
1555 |
5.24e-8 |
SMART |
|
SH3
|
1622 |
1683 |
1.23e-7 |
SMART |
|
RhoGEF
|
1904 |
2074 |
1.47e-52 |
SMART |
|
PH
|
2094 |
2199 |
9.87e-4 |
SMART |
|
SH3
|
2295 |
2356 |
2.78e-2 |
SMART |
|
IGc2
|
2455 |
2527 |
4.28e-12 |
SMART |
|
FN3
|
2541 |
2623 |
3.07e-11 |
SMART |
|
S_TKc
|
2656 |
2910 |
1.28e-71 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089655
AA Change: Y1152C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087084
Gene: ENSMUSG00000061751
AA Change: Y1152C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
SEC14
|
38 |
177 |
2.22e-30 |
SMART |
|
SPEC
|
191 |
307 |
5.32e-9 |
SMART |
|
SPEC
|
313 |
415 |
1.19e-11 |
SMART |
|
SPEC
|
418 |
533 |
1.83e0 |
SMART |
|
SPEC
|
539 |
641 |
9.84e-13 |
SMART |
|
SPEC
|
644 |
766 |
2.74e-2 |
SMART |
|
SPEC
|
893 |
1003 |
1.85e-8 |
SMART |
|
SPEC
|
1133 |
1235 |
4.7e-10 |
SMART |
|
RhoGEF
|
1285 |
1455 |
3.6e-56 |
SMART |
|
PH
|
1469 |
1582 |
5.24e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114947
AA Change: Y498C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110597
Gene: ENSMUSG00000061751
AA Change: Y498C
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
3 |
112 |
4.22e-3 |
SMART |
|
internal_repeat_1
|
128 |
187 |
9.63e-6 |
PROSPERO |
|
SPEC
|
239 |
349 |
1.85e-8 |
SMART |
|
SPEC
|
479 |
581 |
4.7e-10 |
SMART |
|
RhoGEF
|
631 |
801 |
3.6e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114949
AA Change: Y502C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110599
Gene: ENSMUSG00000061751
AA Change: Y502C
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
3 |
125 |
2.74e-2 |
SMART |
|
internal_repeat_1
|
141 |
204 |
2.9e-5 |
PROSPERO |
|
SPEC
|
252 |
353 |
8.11e-14 |
SMART |
|
SPEC
|
483 |
585 |
4.7e-10 |
SMART |
|
RhoGEF
|
635 |
805 |
3.6e-56 |
SMART |
|
PH
|
819 |
932 |
5.24e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114953
AA Change: Y511C
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110603
Gene: ENSMUSG00000061751
AA Change: Y511C
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
3 |
125 |
2.74e-2 |
SMART |
|
internal_repeat_1
|
141 |
204 |
4.18e-5 |
PROSPERO |
|
coiled coil region
|
217 |
248 |
N/A |
INTRINSIC |
|
SPEC
|
252 |
362 |
1.85e-8 |
SMART |
|
SPEC
|
492 |
594 |
4.7e-10 |
SMART |
|
RhoGEF
|
644 |
814 |
3.6e-56 |
SMART |
|
PH
|
828 |
941 |
5.24e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114954
AA Change: Y511C
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110604
Gene: ENSMUSG00000061751
AA Change: Y511C
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
3 |
125 |
2.74e-2 |
SMART |
|
internal_repeat_1
|
141 |
204 |
4.18e-5 |
PROSPERO |
|
coiled coil region
|
217 |
248 |
N/A |
INTRINSIC |
|
SPEC
|
252 |
362 |
1.85e-8 |
SMART |
|
SPEC
|
492 |
594 |
4.7e-10 |
SMART |
|
RhoGEF
|
644 |
814 |
3.6e-56 |
SMART |
|
PH
|
828 |
941 |
5.24e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114960
AA Change: Y1143C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110611
Gene: ENSMUSG00000061751
AA Change: Y1143C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
SEC14
|
38 |
177 |
2.22e-30 |
SMART |
|
SPEC
|
191 |
307 |
5.32e-9 |
SMART |
|
SPEC
|
313 |
415 |
1.19e-11 |
SMART |
|
SPEC
|
418 |
533 |
1.83e0 |
SMART |
|
SPEC
|
539 |
641 |
9.84e-13 |
SMART |
|
SPEC
|
644 |
766 |
2.74e-2 |
SMART |
|
SPEC
|
893 |
994 |
8.11e-14 |
SMART |
|
SPEC
|
1124 |
1226 |
4.7e-10 |
SMART |
|
RhoGEF
|
1276 |
1446 |
3.6e-56 |
SMART |
|
PH
|
1460 |
1573 |
5.24e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114961
|
| SMART Domains |
Protein: ENSMUSP00000110612
Gene: ENSMUSG00000061751
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
40 |
179 |
2.22e-30 |
SMART |
|
SPEC
|
193 |
309 |
5.32e-9 |
SMART |
|
SPEC
|
315 |
417 |
1.19e-11 |
SMART |
|
SPEC
|
420 |
535 |
1.83e0 |
SMART |
|
SPEC
|
541 |
643 |
9.84e-13 |
SMART |
|
SPEC
|
646 |
768 |
2.74e-2 |
SMART |
|
SPEC
|
895 |
996 |
8.11e-14 |
SMART |
|
SPEC
|
1126 |
1228 |
4.7e-10 |
SMART |
|
RhoGEF
|
1278 |
1448 |
3.6e-56 |
SMART |
|
PH
|
1462 |
1575 |
5.24e-8 |
SMART |
|
SH3
|
1642 |
1703 |
1.23e-7 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142817
AA Change: Y1120C
|
| SMART Domains |
Protein: ENSMUSP00000116188
Gene: ENSMUSG00000061751
AA Change: Y1120C
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
16 |
155 |
2.22e-30 |
SMART |
|
SPEC
|
169 |
285 |
5.32e-9 |
SMART |
|
SPEC
|
291 |
393 |
1.19e-11 |
SMART |
|
SPEC
|
396 |
511 |
1.83e0 |
SMART |
|
SPEC
|
517 |
619 |
9.84e-13 |
SMART |
|
SPEC
|
622 |
744 |
2.74e-2 |
SMART |
|
SPEC
|
871 |
972 |
8.11e-14 |
SMART |
|
SPEC
|
1102 |
1204 |
4.7e-10 |
SMART |
|
RhoGEF
|
1254 |
1424 |
3.6e-56 |
SMART |
|
PH
|
1438 |
1551 |
5.24e-8 |
SMART |
|
SH3
|
1618 |
1679 |
1.23e-7 |
SMART |
|
RhoGEF
|
1900 |
2070 |
1.47e-52 |
SMART |
|
PH
|
2090 |
2195 |
9.87e-4 |
SMART |
|
SH3
|
2291 |
2352 |
2.78e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151491
AA Change: Y899C
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123416
Gene: ENSMUSG00000061751
AA Change: Y899C
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
26 |
165 |
2.22e-30 |
SMART |
|
SPEC
|
179 |
295 |
5.32e-9 |
SMART |
|
SPEC
|
301 |
403 |
1.19e-11 |
SMART |
|
SPEC
|
640 |
750 |
1.85e-8 |
SMART |
|
SPEC
|
880 |
982 |
4.7e-10 |
SMART |
|
RhoGEF
|
1032 |
1202 |
3.6e-56 |
SMART |
|
PH
|
1216 |
1329 |
5.24e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele specific for isoform 7 exhibit decreased anxiety-related behavior, contextual conditioning, and synapse formation. Mice homozygous for another knock-out allele exhibit impaired AMPA-mediated synaptic currents and abnormal behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430573F11Rik |
A |
T |
8: 36,498,415 |
K30* |
probably null |
Het |
| Abhd18 |
T |
C |
3: 40,933,551 |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,571,679 |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,427,079 |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,712,649 |
Y65C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,301,017 |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,967,576 |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,568,392 |
W52R |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 107,084,207 |
E276D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 110,098,820 |
N78S |
probably damaging |
Het |
| Dmap1 |
A |
T |
4: 117,675,480 |
V333E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,821,386 |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,924,277 |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 126,007,334 |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,487,291 |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,011,075 |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,035,713 |
R401G |
probably damaging |
Het |
| Gm572 |
G |
A |
4: 148,666,798 |
M209I |
probably benign |
Het |
| Gne |
G |
A |
4: 44,060,030 |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 46,726,379 |
N160D |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 106,975,376 |
C524S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,991,538 |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,213,706 |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,433,069 |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,851,582 |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,335,002 |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,701,521 |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,444,526 |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,396,538 |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,392,756 |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,592,641 |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,737,834 |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,215,511 |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,334,357 |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,819,104 |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 73,048,629 |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 52,898,204 |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,603,699 |
D1748G |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,085,870 |
C825* |
probably null |
Het |
|
| Other mutations in Kalrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Kalrn
|
APN |
16 |
34175722 |
splice site |
probably benign |
|
|
IGL01364:Kalrn
|
APN |
16 |
34262629 |
missense |
probably damaging |
1.00 |
|
IGL01510:Kalrn
|
APN |
16 |
34235330 |
missense |
possibly damaging |
0.52 |
|
IGL01664:Kalrn
|
APN |
16 |
34294161 |
missense |
probably damaging |
1.00 |
|
IGL01934:Kalrn
|
APN |
16 |
34198512 |
splice site |
probably null |
|
|
IGL02059:Kalrn
|
APN |
16 |
34252341 |
missense |
possibly damaging |
0.95 |
|
IGL02102:Kalrn
|
APN |
16 |
34220222 |
missense |
probably damaging |
1.00 |
|
IGL02306:Kalrn
|
APN |
16 |
34310527 |
missense |
probably damaging |
0.97 |
|
IGL02328:Kalrn
|
APN |
16 |
34332224 |
missense |
probably damaging |
0.98 |
|
IGL02532:Kalrn
|
APN |
16 |
34360846 |
missense |
probably damaging |
1.00 |
|
IGL02685:Kalrn
|
APN |
16 |
34513959 |
nonsense |
probably null |
|
|
IGL02696:Kalrn
|
APN |
16 |
34220114 |
missense |
probably damaging |
1.00 |
|
IGL02708:Kalrn
|
APN |
16 |
34392050 |
missense |
probably damaging |
1.00 |
|
IGL02937:Kalrn
|
APN |
16 |
34220130 |
nonsense |
probably null |
|
|
IGL03188:Kalrn
|
APN |
16 |
34314192 |
missense |
probably benign |
0.01 |
|
IGL03289:Kalrn
|
APN |
16 |
34385297 |
missense |
possibly damaging |
0.90 |
|
IGL03408:Kalrn
|
APN |
16 |
34314176 |
missense |
probably damaging |
0.99 |
|
breeze
|
UTSW |
16 |
34013675 |
missense |
|
|
|
ethereal
|
UTSW |
16 |
33975435 |
utr 3 prime |
probably benign |
|
|
Feather
|
UTSW |
16 |
34314209 |
missense |
probably damaging |
0.99 |
|
Hidden
|
UTSW |
16 |
34027976 |
missense |
probably damaging |
1.00 |
|
Soulful
|
UTSW |
16 |
34187484 |
nonsense |
probably null |
|
|
G1Funyon:Kalrn
|
UTSW |
16 |
34357100 |
missense |
probably benign |
0.05 |
|
PIT4498001:Kalrn
|
UTSW |
16 |
34031582 |
missense |
possibly damaging |
0.81 |
|
R0019:Kalrn
|
UTSW |
16 |
34198514 |
splice site |
probably benign |
|
|
R0043:Kalrn
|
UTSW |
16 |
34054906 |
missense |
probably damaging |
1.00 |
|
R0052:Kalrn
|
UTSW |
16 |
34357171 |
missense |
probably damaging |
1.00 |
|
R0066:Kalrn
|
UTSW |
16 |
34203957 |
missense |
probably damaging |
1.00 |
|
R0098:Kalrn
|
UTSW |
16 |
33975619 |
missense |
possibly damaging |
0.89 |
|
R0098:Kalrn
|
UTSW |
16 |
33975619 |
missense |
possibly damaging |
0.89 |
|
R0111:Kalrn
|
UTSW |
16 |
34031590 |
missense |
probably damaging |
1.00 |
|
R0113:Kalrn
|
UTSW |
16 |
34049936 |
intron |
probably benign |
|
|
R0183:Kalrn
|
UTSW |
16 |
34171379 |
splice site |
probably null |
|
|
R0422:Kalrn
|
UTSW |
16 |
34314273 |
missense |
probably damaging |
0.99 |
|
R0498:Kalrn
|
UTSW |
16 |
34054891 |
missense |
possibly damaging |
0.61 |
|
R0614:Kalrn
|
UTSW |
16 |
33993670 |
splice site |
probably benign |
|
|
R0656:Kalrn
|
UTSW |
16 |
34032467 |
missense |
probably damaging |
1.00 |
|
R0671:Kalrn
|
UTSW |
16 |
34116408 |
missense |
probably benign |
0.04 |
|
R0707:Kalrn
|
UTSW |
16 |
34010581 |
missense |
possibly damaging |
0.88 |
|
R0709:Kalrn
|
UTSW |
16 |
34035554 |
missense |
probably damaging |
1.00 |
|
R0834:Kalrn
|
UTSW |
16 |
34049919 |
missense |
possibly damaging |
0.94 |
|
R0976:Kalrn
|
UTSW |
16 |
34385390 |
missense |
probably damaging |
1.00 |
|
R1297:Kalrn
|
UTSW |
16 |
34016498 |
missense |
probably damaging |
0.99 |
|
R1355:Kalrn
|
UTSW |
16 |
33975584 |
missense |
possibly damaging |
0.74 |
|
R1370:Kalrn
|
UTSW |
16 |
33975584 |
missense |
possibly damaging |
0.74 |
|
R1389:Kalrn
|
UTSW |
16 |
33988803 |
missense |
probably benign |
0.01 |
|
R1398:Kalrn
|
UTSW |
16 |
34212820 |
missense |
probably damaging |
1.00 |
|
R1427:Kalrn
|
UTSW |
16 |
33975754 |
missense |
probably damaging |
1.00 |
|
R1458:Kalrn
|
UTSW |
16 |
34174487 |
missense |
probably damaging |
1.00 |
|
R1470:Kalrn
|
UTSW |
16 |
34187471 |
missense |
probably damaging |
1.00 |
|
R1470:Kalrn
|
UTSW |
16 |
34187471 |
missense |
probably damaging |
1.00 |
|
R1557:Kalrn
|
UTSW |
16 |
34314278 |
missense |
possibly damaging |
0.92 |
|
R1559:Kalrn
|
UTSW |
16 |
34010548 |
missense |
possibly damaging |
0.92 |
|
R1654:Kalrn
|
UTSW |
16 |
33975738 |
missense |
probably damaging |
1.00 |
|
R1703:Kalrn
|
UTSW |
16 |
34205326 |
missense |
probably damaging |
1.00 |
|
R1759:Kalrn
|
UTSW |
16 |
34360950 |
missense |
probably damaging |
0.97 |
|
R1764:Kalrn
|
UTSW |
16 |
34212873 |
missense |
probably damaging |
1.00 |
|
R1824:Kalrn
|
UTSW |
16 |
34294215 |
missense |
probably damaging |
1.00 |
|
R1845:Kalrn
|
UTSW |
16 |
34356961 |
missense |
probably damaging |
0.99 |
|
R1850:Kalrn
|
UTSW |
16 |
33975923 |
missense |
probably damaging |
0.98 |
|
R1921:Kalrn
|
UTSW |
16 |
34392093 |
missense |
probably benign |
0.02 |
|
R1922:Kalrn
|
UTSW |
16 |
34392093 |
missense |
probably benign |
0.02 |
|
R1970:Kalrn
|
UTSW |
16 |
33977524 |
critical splice donor site |
probably null |
|
|
R1991:Kalrn
|
UTSW |
16 |
33975738 |
missense |
probably damaging |
1.00 |
|
R1992:Kalrn
|
UTSW |
16 |
33975738 |
missense |
probably damaging |
1.00 |
|
R2001:Kalrn
|
UTSW |
16 |
34028045 |
missense |
probably damaging |
1.00 |
|
R2025:Kalrn
|
UTSW |
16 |
34189736 |
missense |
probably damaging |
0.96 |
|
R2048:Kalrn
|
UTSW |
16 |
34252310 |
missense |
probably benign |
0.18 |
|
R2076:Kalrn
|
UTSW |
16 |
34332143 |
missense |
probably benign |
0.15 |
|
R2118:Kalrn
|
UTSW |
16 |
34332230 |
missense |
possibly damaging |
0.84 |
|
R2136:Kalrn
|
UTSW |
16 |
34307724 |
missense |
possibly damaging |
0.82 |
|
R2145:Kalrn
|
UTSW |
16 |
34009262 |
unclassified |
probably benign |
|
|
R2193:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2195:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2234:Kalrn
|
UTSW |
16 |
34176262 |
splice site |
probably null |
|
|
R2404:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2405:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2408:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2411:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2570:Kalrn
|
UTSW |
16 |
34310495 |
missense |
probably damaging |
1.00 |
|
R2903:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2904:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R2924:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R3411:Kalrn
|
UTSW |
16 |
34212272 |
missense |
probably benign |
0.07 |
|
R3693:Kalrn
|
UTSW |
16 |
34357315 |
missense |
probably damaging |
1.00 |
|
R3709:Kalrn
|
UTSW |
16 |
34392030 |
splice site |
probably null |
|
|
R3788:Kalrn
|
UTSW |
16 |
34220240 |
missense |
probably damaging |
1.00 |
|
R3833:Kalrn
|
UTSW |
16 |
34039889 |
nonsense |
probably null |
|
|
R3871:Kalrn
|
UTSW |
16 |
34203856 |
splice site |
probably null |
|
|
R3934:Kalrn
|
UTSW |
16 |
34310531 |
missense |
probably benign |
0.34 |
|
R4033:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4056:Kalrn
|
UTSW |
16 |
34314209 |
missense |
probably damaging |
0.99 |
|
R4057:Kalrn
|
UTSW |
16 |
34314209 |
missense |
probably damaging |
0.99 |
|
R4303:Kalrn
|
UTSW |
16 |
34235391 |
missense |
probably damaging |
1.00 |
|
R4402:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4444:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4482:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4487:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4558:Kalrn
|
UTSW |
16 |
33987208 |
missense |
possibly damaging |
0.46 |
|
R4572:Kalrn
|
UTSW |
16 |
34392042 |
missense |
probably damaging |
0.98 |
|
R4583:Kalrn
|
UTSW |
16 |
34235267 |
missense |
probably damaging |
1.00 |
|
R4604:Kalrn
|
UTSW |
16 |
34513926 |
missense |
possibly damaging |
0.46 |
|
R4620:Kalrn
|
UTSW |
16 |
34028705 |
missense |
probably damaging |
0.99 |
|
R4651:Kalrn
|
UTSW |
16 |
34176391 |
missense |
probably damaging |
1.00 |
|
R4703:Kalrn
|
UTSW |
16 |
34203957 |
missense |
probably damaging |
1.00 |
|
R4704:Kalrn
|
UTSW |
16 |
34203957 |
missense |
probably damaging |
1.00 |
|
R4705:Kalrn
|
UTSW |
16 |
34203957 |
missense |
probably damaging |
1.00 |
|
R4760:Kalrn
|
UTSW |
16 |
34198487 |
missense |
probably damaging |
1.00 |
|
R4793:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4794:Kalrn
|
UTSW |
16 |
33989810 |
missense |
possibly damaging |
0.72 |
|
R4811:Kalrn
|
UTSW |
16 |
34356969 |
missense |
probably damaging |
1.00 |
|
R4816:Kalrn
|
UTSW |
16 |
34514019 |
unclassified |
probably benign |
|
|
R4888:Kalrn
|
UTSW |
16 |
34171330 |
missense |
probably damaging |
1.00 |
|
R4952:Kalrn
|
UTSW |
16 |
34357415 |
splice site |
probably null |
|
|
R5030:Kalrn
|
UTSW |
16 |
33975742 |
missense |
probably benign |
0.00 |
|
R5045:Kalrn
|
UTSW |
16 |
34314352 |
nonsense |
probably null |
|
|
R5117:Kalrn
|
UTSW |
16 |
34033601 |
critical splice acceptor site |
probably null |
|
|
R5289:Kalrn
|
UTSW |
16 |
34252341 |
missense |
possibly damaging |
0.95 |
|
R5426:Kalrn
|
UTSW |
16 |
34262653 |
missense |
probably damaging |
1.00 |
|
R5432:Kalrn
|
UTSW |
16 |
34053622 |
missense |
probably damaging |
1.00 |
|
R5611:Kalrn
|
UTSW |
16 |
34175780 |
missense |
probably damaging |
1.00 |
|
R5629:Kalrn
|
UTSW |
16 |
34039934 |
missense |
possibly damaging |
0.77 |
|
R5635:Kalrn
|
UTSW |
16 |
34014084 |
missense |
probably damaging |
1.00 |
|
R5713:Kalrn
|
UTSW |
16 |
34016579 |
missense |
probably benign |
|
|
R5716:Kalrn
|
UTSW |
16 |
33987176 |
missense |
probably benign |
0.01 |
|
R5772:Kalrn
|
UTSW |
16 |
33975820 |
missense |
probably damaging |
1.00 |
|
R5835:Kalrn
|
UTSW |
16 |
33987091 |
missense |
probably benign |
0.28 |
|
R5895:Kalrn
|
UTSW |
16 |
33975435 |
utr 3 prime |
probably benign |
|
|
R5924:Kalrn
|
UTSW |
16 |
34243833 |
missense |
probably damaging |
1.00 |
|
R5999:Kalrn
|
UTSW |
16 |
34357343 |
missense |
probably damaging |
1.00 |
|
R6010:Kalrn
|
UTSW |
16 |
34010580 |
missense |
probably benign |
0.06 |
|
R6052:Kalrn
|
UTSW |
16 |
34360885 |
missense |
probably damaging |
1.00 |
|
R6122:Kalrn
|
UTSW |
16 |
33985191 |
missense |
possibly damaging |
0.82 |
|
R6128:Kalrn
|
UTSW |
16 |
34212885 |
missense |
probably damaging |
0.99 |
|
R6136:Kalrn
|
UTSW |
16 |
34357111 |
missense |
probably damaging |
1.00 |
|
R6178:Kalrn
|
UTSW |
16 |
34053639 |
missense |
possibly damaging |
0.88 |
|
R6229:Kalrn
|
UTSW |
16 |
34055071 |
missense |
probably damaging |
1.00 |
|
R6376:Kalrn
|
UTSW |
16 |
33975991 |
missense |
probably benign |
|
|
R6397:Kalrn
|
UTSW |
16 |
33992985 |
missense |
probably damaging |
1.00 |
|
R6429:Kalrn
|
UTSW |
16 |
34332164 |
missense |
possibly damaging |
0.85 |
|
R6473:Kalrn
|
UTSW |
16 |
34205302 |
missense |
probably damaging |
1.00 |
|
R6481:Kalrn
|
UTSW |
16 |
34360984 |
missense |
probably damaging |
1.00 |
|
R6597:Kalrn
|
UTSW |
16 |
34182747 |
missense |
probably damaging |
1.00 |
|
R6736:Kalrn
|
UTSW |
16 |
34217923 |
missense |
probably damaging |
1.00 |
|
R6808:Kalrn
|
UTSW |
16 |
34027976 |
missense |
probably damaging |
1.00 |
|
R6897:Kalrn
|
UTSW |
16 |
33975703 |
missense |
probably damaging |
0.99 |
|
R6955:Kalrn
|
UTSW |
16 |
34220136 |
missense |
probably damaging |
1.00 |
|
R7060:Kalrn
|
UTSW |
16 |
34357048 |
missense |
probably damaging |
0.99 |
|
R7064:Kalrn
|
UTSW |
16 |
34217891 |
missense |
probably damaging |
1.00 |
|
R7132:Kalrn
|
UTSW |
16 |
34256227 |
missense |
unknown |
|
|
R7154:Kalrn
|
UTSW |
16 |
34212157 |
critical splice donor site |
probably null |
|
|
R7181:Kalrn
|
UTSW |
16 |
34163077 |
missense |
probably benign |
0.00 |
|
R7234:Kalrn
|
UTSW |
16 |
34176422 |
missense |
possibly damaging |
0.63 |
|
R7235:Kalrn
|
UTSW |
16 |
34175761 |
missense |
probably benign |
0.18 |
|
R7504:Kalrn
|
UTSW |
16 |
34256233 |
missense |
unknown |
|
|
R7563:Kalrn
|
UTSW |
16 |
34392094 |
missense |
probably damaging |
0.97 |
|
R7612:Kalrn
|
UTSW |
16 |
34314212 |
missense |
possibly damaging |
0.68 |
|
R7772:Kalrn
|
UTSW |
16 |
34031582 |
missense |
probably benign |
0.04 |
|
R7796:Kalrn
|
UTSW |
16 |
34187484 |
nonsense |
probably null |
|
|
R7867:Kalrn
|
UTSW |
16 |
33989791 |
missense |
possibly damaging |
0.94 |
|
R7869:Kalrn
|
UTSW |
16 |
33988847 |
missense |
probably damaging |
0.98 |
|
R7914:Kalrn
|
UTSW |
16 |
34028752 |
missense |
probably benign |
|
|
R8080:Kalrn
|
UTSW |
16 |
33975668 |
missense |
possibly damaging |
0.83 |
|
R8147:Kalrn
|
UTSW |
16 |
34055044 |
missense |
probably benign |
|
|
R8239:Kalrn
|
UTSW |
16 |
34049783 |
missense |
noncoding transcript |
|
|
R8281:Kalrn
|
UTSW |
16 |
34035061 |
nonsense |
probably null |
|
|
R8294:Kalrn
|
UTSW |
16 |
34033584 |
missense |
probably benign |
0.12 |
|
R8301:Kalrn
|
UTSW |
16 |
34357100 |
missense |
probably benign |
0.05 |
|
R8686:Kalrn
|
UTSW |
16 |
34360935 |
missense |
probably damaging |
1.00 |
|
R8693:Kalrn
|
UTSW |
16 |
34034514 |
missense |
probably damaging |
1.00 |
|
R8798:Kalrn
|
UTSW |
16 |
33982855 |
missense |
possibly damaging |
0.65 |
|
R8878:Kalrn
|
UTSW |
16 |
34198460 |
missense |
probably benign |
0.05 |
|
R8878:Kalrn
|
UTSW |
16 |
34205326 |
missense |
probably damaging |
1.00 |
|
R8880:Kalrn
|
UTSW |
16 |
34217935 |
missense |
probably damaging |
1.00 |
|
R8883:Kalrn
|
UTSW |
16 |
33993655 |
missense |
probably damaging |
1.00 |
|
R8887:Kalrn
|
UTSW |
16 |
34227126 |
missense |
probably benign |
0.22 |
|
R9048:Kalrn
|
UTSW |
16 |
34034484 |
missense |
possibly damaging |
0.84 |
|
R9111:Kalrn
|
UTSW |
16 |
34361001 |
missense |
probably damaging |
0.96 |
|
R9317:Kalrn
|
UTSW |
16 |
34013675 |
missense |
|
|
|
R9424:Kalrn
|
UTSW |
16 |
33988818 |
missense |
probably benign |
0.06 |
|
R9442:Kalrn
|
UTSW |
16 |
34095879 |
start codon destroyed |
probably null |
0.56 |
|
R9445:Kalrn
|
UTSW |
16 |
33985230 |
missense |
probably benign |
0.13 |
|
R9515:Kalrn
|
UTSW |
16 |
34034494 |
missense |
probably damaging |
1.00 |
|
R9516:Kalrn
|
UTSW |
16 |
34034494 |
missense |
probably damaging |
1.00 |
|
R9625:Kalrn
|
UTSW |
16 |
34028827 |
critical splice acceptor site |
probably null |
|
|
R9645:Kalrn
|
UTSW |
16 |
34212213 |
missense |
probably benign |
0.01 |
|
RF014:Kalrn
|
UTSW |
16 |
34039933 |
missense |
probably benign |
0.01 |
|
Z1177:Kalrn
|
UTSW |
16 |
34035506 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGGTTCTGCATGCAG -3'
(R):5'- GAGCTGTCCCAACTCAAAGG -3'
Sequencing Primer
(F):5'- TCTGCATGCAGAGCCCG -3'
(R):5'- TGTCCCAACTCAAAGGAAAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation