Incidental Mutation 'R4299:Patj'
| ID |
323469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patj
|
| Ensembl Gene |
ENSMUSG00000061859 |
| Gene Name |
PATJ, crumbs cell polarity complex component |
| Synonyms |
Cipp, Inadl |
| MMRRC Submission |
041087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98284022-98607840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 98565558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1090
(N1090K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030290]
[ENSMUST00000041284]
[ENSMUST00000102792]
[ENSMUST00000107029]
[ENSMUST00000107034]
|
| AlphaFold |
Q63ZW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030290
AA Change: N441K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: N441K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
106 |
6.12e-19 |
SMART |
|
low complexity region
|
134 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
|
PDZ
|
258 |
333 |
4.36e-24 |
SMART |
|
PDZ
|
355 |
428 |
2.49e-19 |
SMART |
|
PDZ
|
496 |
573 |
1.73e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041284
AA Change: N1663K
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: N1663K
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
8 |
68 |
6.53e-9 |
SMART |
|
PDZ
|
143 |
221 |
1.78e-20 |
SMART |
|
PDZ
|
256 |
328 |
1.15e-23 |
SMART |
|
PDZ
|
374 |
453 |
3.15e-21 |
SMART |
|
coiled coil region
|
486 |
513 |
N/A |
INTRINSIC |
|
PDZ
|
570 |
641 |
1.28e-12 |
SMART |
|
PDZ
|
696 |
775 |
9.5e-16 |
SMART |
|
low complexity region
|
980 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1062 |
N/A |
INTRINSIC |
|
PDZ
|
1083 |
1166 |
8.65e-19 |
SMART |
|
PDZ
|
1253 |
1328 |
6.12e-19 |
SMART |
|
low complexity region
|
1356 |
1366 |
N/A |
INTRINSIC |
|
low complexity region
|
1410 |
1428 |
N/A |
INTRINSIC |
|
PDZ
|
1480 |
1555 |
4.36e-24 |
SMART |
|
PDZ
|
1577 |
1650 |
2.49e-19 |
SMART |
|
PDZ
|
1718 |
1795 |
2.13e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102792
AA Change: N441K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859
AA Change: N441K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
106 |
6.12e-19 |
SMART |
|
low complexity region
|
134 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
|
PDZ
|
258 |
333 |
4.36e-24 |
SMART |
|
PDZ
|
355 |
428 |
2.49e-19 |
SMART |
|
PDZ
|
496 |
573 |
2.13e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107029
AA Change: N1090K
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: N1090K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
1 |
68 |
1e-9 |
SMART |
|
PDZ
|
123 |
202 |
4.7e-18 |
SMART |
|
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
489 |
N/A |
INTRINSIC |
|
PDZ
|
510 |
593 |
4.3e-21 |
SMART |
|
PDZ
|
680 |
755 |
2.9e-21 |
SMART |
|
low complexity region
|
783 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
855 |
N/A |
INTRINSIC |
|
PDZ
|
907 |
982 |
2.2e-26 |
SMART |
|
PDZ
|
1004 |
1077 |
1.2e-21 |
SMART |
|
PDZ
|
1145 |
1222 |
1e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107034
|
| SMART Domains |
Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
8 |
68 |
6.53e-9 |
SMART |
|
PDZ
|
143 |
221 |
1.78e-20 |
SMART |
|
PDZ
|
256 |
328 |
1.15e-23 |
SMART |
|
PDZ
|
374 |
453 |
3.15e-21 |
SMART |
|
coiled coil region
|
486 |
513 |
N/A |
INTRINSIC |
|
PDZ
|
566 |
637 |
1.28e-12 |
SMART |
|
PDZ
|
692 |
771 |
9.5e-16 |
SMART |
|
low complexity region
|
976 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1058 |
N/A |
INTRINSIC |
|
PDZ
|
1079 |
1162 |
8.65e-19 |
SMART |
|
PDZ
|
1249 |
1324 |
6.12e-19 |
SMART |
|
low complexity region
|
1352 |
1362 |
N/A |
INTRINSIC |
|
low complexity region
|
1382 |
1400 |
N/A |
INTRINSIC |
|
PDZ
|
1452 |
1499 |
7.78e0 |
SMART |
|
| Meta Mutation Damage Score |
0.2639 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (76/78) |
| MGI Phenotype |
FUNCTION: This gene encodes a multivalent PDZ domain protein, which is expressed exclusively in brain and kidney. This protein selectively interacts with inward rectifier K+ (Kir) family members, N-methyl-D-aspartate receptor subunits, neurexins and neuroligins, as well as cell surface molecules enriched in synaptic membranes. Thus, this protein may serve as a scaffold that brings structurally diverse but functionally connected proteins into close proximity at the synapse. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Akna |
A |
T |
4: 63,316,269 (GRCm39) |
D31E |
possibly damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,721 (GRCm39) |
H528Q |
probably damaging |
Het |
| Atp6v1g3 |
C |
A |
1: 138,211,462 (GRCm39) |
Y47* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,118 (GRCm39) |
D1384G |
possibly damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,365,848 (GRCm39) |
V353I |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,870 (GRCm39) |
R208G |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,988,731 (GRCm39) |
I211T |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,705,739 (GRCm39) |
S1166P |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,624,161 (GRCm39) |
Q149* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,172,372 (GRCm39) |
Q90R |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,510,487 (GRCm39) |
Y129C |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,989 (GRCm39) |
T3645A |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,774,561 (GRCm39) |
D429N |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,175,200 (GRCm39) |
W282R |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,729,008 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,045,059 (GRCm39) |
T297A |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,717 (GRCm39) |
D142E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,337,882 (GRCm39) |
N29K |
probably benign |
Het |
| Fxyd7 |
A |
T |
7: 30,744,407 (GRCm39) |
M36K |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,366,792 (GRCm39) |
R178* |
probably null |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Il1rapl1 |
A |
T |
X: 86,344,313 (GRCm39) |
I194N |
probably damaging |
Het |
| Kics2 |
C |
A |
10: 121,581,351 (GRCm39) |
H117Q |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,925,754 (GRCm39) |
M94T |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,669,912 (GRCm39) |
I133N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,293,199 (GRCm39) |
I5381T |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,148 (GRCm39) |
L197P |
probably damaging |
Het |
| Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
| Micall2 |
T |
C |
5: 139,695,226 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,164 (GRCm39) |
T1214A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Neurl4 |
A |
C |
11: 69,799,887 (GRCm39) |
D1055A |
probably damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,407,943 (GRCm39) |
|
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,156 (GRCm39) |
V88A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,827 (GRCm39) |
D70E |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,202 (GRCm39) |
H94L |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,585 (GRCm39) |
I142F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,878 (GRCm39) |
Y265* |
probably null |
Het |
| Or8b42 |
T |
G |
9: 38,342,108 (GRCm39) |
Y177D |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,055 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,295 (GRCm39) |
S300P |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,977,783 (GRCm39) |
D692G |
probably benign |
Het |
| Ppa2 |
G |
T |
3: 133,073,603 (GRCm39) |
K220N |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,419 (GRCm39) |
K137E |
probably damaging |
Het |
| Ptgr3 |
A |
T |
18: 84,112,626 (GRCm39) |
I101F |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,597,865 (GRCm39) |
H250R |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,531,566 (GRCm39) |
T497A |
probably damaging |
Het |
| Rpl13-ps3 |
T |
A |
14: 59,130,972 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
G |
9: 119,594,572 (GRCm39) |
I1274L |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,946,626 (GRCm39) |
H133L |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,694,521 (GRCm39) |
|
probably null |
Het |
| Smc2 |
C |
T |
4: 52,440,238 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
T |
C |
5: 73,824,245 (GRCm39) |
I156T |
probably benign |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,674,640 (GRCm39) |
F48L |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
T |
17: 25,334,230 (GRCm39) |
S6T |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,115,491 (GRCm39) |
M369V |
probably benign |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,283 (GRCm39) |
M66L |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,589 (GRCm39) |
L97* |
probably null |
Het |
| Xrcc5 |
T |
C |
1: 72,433,879 (GRCm39) |
*733Q |
probably null |
Het |
| Zfp1004 |
G |
A |
2: 150,032,653 (GRCm39) |
D17N |
probably damaging |
Het |
| Zfp516 |
G |
A |
18: 83,005,622 (GRCm39) |
G842D |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Patj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Patj
|
APN |
4 |
98,353,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00095:Patj
|
APN |
4 |
98,423,799 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00517:Patj
|
APN |
4 |
98,329,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00802:Patj
|
APN |
4 |
98,312,643 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01064:Patj
|
APN |
4 |
98,385,210 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01110:Patj
|
APN |
4 |
98,301,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01407:Patj
|
APN |
4 |
98,301,287 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01821:Patj
|
APN |
4 |
98,344,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Patj
|
APN |
4 |
98,480,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Patj
|
APN |
4 |
98,592,224 (GRCm39) |
splice site |
probably benign |
|
|
IGL02803:Patj
|
APN |
4 |
98,314,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Patj
|
APN |
4 |
98,299,410 (GRCm39) |
splice site |
probably benign |
|
|
IGL03017:Patj
|
APN |
4 |
98,353,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL03115:Patj
|
APN |
4 |
98,332,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Patj
|
APN |
4 |
98,353,377 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03377:Patj
|
APN |
4 |
98,353,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4186:Patj
|
UTSW |
4 |
98,526,999 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4531001:Patj
|
UTSW |
4 |
98,329,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0136:Patj
|
UTSW |
4 |
98,555,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Patj
|
UTSW |
4 |
98,385,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0376:Patj
|
UTSW |
4 |
98,457,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Patj
|
UTSW |
4 |
98,562,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Patj
|
UTSW |
4 |
98,423,744 (GRCm39) |
splice site |
probably null |
|
|
R0466:Patj
|
UTSW |
4 |
98,576,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Patj
|
UTSW |
4 |
98,457,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Patj
|
UTSW |
4 |
98,569,472 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Patj
|
UTSW |
4 |
98,555,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Patj
|
UTSW |
4 |
98,304,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Patj
|
UTSW |
4 |
98,312,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Patj
|
UTSW |
4 |
98,357,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Patj
|
UTSW |
4 |
98,301,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Patj
|
UTSW |
4 |
98,320,017 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1729:Patj
|
UTSW |
4 |
98,320,017 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1797:Patj
|
UTSW |
4 |
98,575,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Patj
|
UTSW |
4 |
98,511,885 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1835:Patj
|
UTSW |
4 |
98,379,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Patj
|
UTSW |
4 |
98,385,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2009:Patj
|
UTSW |
4 |
98,344,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Patj
|
UTSW |
4 |
98,325,560 (GRCm39) |
unclassified |
probably benign |
|
|
R2120:Patj
|
UTSW |
4 |
98,344,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2180:Patj
|
UTSW |
4 |
98,411,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2655:Patj
|
UTSW |
4 |
98,325,687 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3156:Patj
|
UTSW |
4 |
98,562,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Patj
|
UTSW |
4 |
98,357,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Patj
|
UTSW |
4 |
98,569,456 (GRCm39) |
nonsense |
probably null |
|
|
R3913:Patj
|
UTSW |
4 |
98,457,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3917:Patj
|
UTSW |
4 |
98,480,245 (GRCm39) |
nonsense |
probably null |
|
|
R3918:Patj
|
UTSW |
4 |
98,344,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Patj
|
UTSW |
4 |
98,538,691 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4471:Patj
|
UTSW |
4 |
98,423,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Patj
|
UTSW |
4 |
98,293,807 (GRCm39) |
nonsense |
probably null |
|
|
R4877:Patj
|
UTSW |
4 |
98,457,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4945:Patj
|
UTSW |
4 |
98,383,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5274:Patj
|
UTSW |
4 |
98,407,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5343:Patj
|
UTSW |
4 |
98,564,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Patj
|
UTSW |
4 |
98,342,633 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5688:Patj
|
UTSW |
4 |
98,409,047 (GRCm39) |
nonsense |
probably null |
|
|
R5880:Patj
|
UTSW |
4 |
98,299,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5972:Patj
|
UTSW |
4 |
98,457,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6149:Patj
|
UTSW |
4 |
98,312,562 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6192:Patj
|
UTSW |
4 |
98,344,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Patj
|
UTSW |
4 |
98,357,804 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6350:Patj
|
UTSW |
4 |
98,293,855 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6363:Patj
|
UTSW |
4 |
98,320,097 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6434:Patj
|
UTSW |
4 |
98,379,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Patj
|
UTSW |
4 |
98,304,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Patj
|
UTSW |
4 |
98,314,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7039:Patj
|
UTSW |
4 |
98,457,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7040:Patj
|
UTSW |
4 |
98,329,317 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7052:Patj
|
UTSW |
4 |
98,565,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7066:Patj
|
UTSW |
4 |
98,301,434 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7236:Patj
|
UTSW |
4 |
98,299,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Patj
|
UTSW |
4 |
98,480,170 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7260:Patj
|
UTSW |
4 |
98,304,970 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7412:Patj
|
UTSW |
4 |
98,299,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7493:Patj
|
UTSW |
4 |
98,383,298 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7570:Patj
|
UTSW |
4 |
98,312,737 (GRCm39) |
splice site |
probably null |
|
|
R7571:Patj
|
UTSW |
4 |
98,457,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Patj
|
UTSW |
4 |
98,435,224 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7658:Patj
|
UTSW |
4 |
98,576,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Patj
|
UTSW |
4 |
98,385,187 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7669:Patj
|
UTSW |
4 |
98,407,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Patj
|
UTSW |
4 |
98,435,220 (GRCm39) |
start codon destroyed |
probably benign |
0.05 |
|
R7870:Patj
|
UTSW |
4 |
98,312,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Patj
|
UTSW |
4 |
98,499,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Patj
|
UTSW |
4 |
98,312,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8050:Patj
|
UTSW |
4 |
98,427,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Patj
|
UTSW |
4 |
98,562,466 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8239:Patj
|
UTSW |
4 |
98,570,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8483:Patj
|
UTSW |
4 |
98,312,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Patj
|
UTSW |
4 |
98,325,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8746:Patj
|
UTSW |
4 |
98,394,067 (GRCm39) |
intron |
probably benign |
|
|
R8844:Patj
|
UTSW |
4 |
98,480,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Patj
|
UTSW |
4 |
98,385,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Patj
|
UTSW |
4 |
98,385,565 (GRCm39) |
missense |
|
|
|
R8959:Patj
|
UTSW |
4 |
98,480,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9083:Patj
|
UTSW |
4 |
98,401,871 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9173:Patj
|
UTSW |
4 |
98,526,958 (GRCm39) |
missense |
probably benign |
|
|
R9206:Patj
|
UTSW |
4 |
98,427,310 (GRCm39) |
missense |
unknown |
|
|
R9208:Patj
|
UTSW |
4 |
98,427,310 (GRCm39) |
missense |
unknown |
|
|
R9347:Patj
|
UTSW |
4 |
98,576,484 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9560:Patj
|
UTSW |
4 |
98,570,289 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9609:Patj
|
UTSW |
4 |
98,576,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9617:Patj
|
UTSW |
4 |
98,393,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9658:Patj
|
UTSW |
4 |
98,353,377 (GRCm39) |
missense |
probably null |
1.00 |
|
R9756:Patj
|
UTSW |
4 |
98,565,535 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Patj
|
UTSW |
4 |
98,564,555 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Patj
|
UTSW |
4 |
98,499,367 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Patj
|
UTSW |
4 |
98,385,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGTAAACCTCTGCTGC -3'
(R):5'- ACAGGCAATATTGAACACCGAG -3'
Sequencing Primer
(F):5'- CTGCTGCAGAGATGGCTG -3'
(R):5'- TTCTAAGAAAACACAGGCAATAAAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation