Incidental Mutation 'R1854:Cit'
| ID |
205907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cit
|
| Ensembl Gene |
ENSMUSG00000029516 |
| Gene Name |
citron |
| Synonyms |
CRIK-SK, C030025P15Rik, citron kinase, Cit-k, citron-N |
| MMRRC Submission |
039878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R1854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115983337-116147006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116011960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 189
(Y189C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051704]
[ENSMUST00000102560]
[ENSMUST00000112008]
[ENSMUST00000137952]
[ENSMUST00000141101]
[ENSMUST00000148245]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051704
AA Change: Y189C
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: Y189C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
97 |
359 |
2.92e-89 |
SMART |
|
S_TK_X
|
360 |
422 |
6.32e-16 |
SMART |
|
low complexity region
|
632 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
968 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1138 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1203 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1243 |
1282 |
1.05e-5 |
PROSPERO |
|
low complexity region
|
1353 |
1364 |
N/A |
INTRINSIC |
|
C1
|
1389 |
1437 |
1.97e-9 |
SMART |
|
PH
|
1470 |
1591 |
1.31e-8 |
SMART |
|
CNH
|
1618 |
1915 |
1.78e-112 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102560
AA Change: Y189C
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: Y189C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
97 |
359 |
2.92e-89 |
SMART |
|
S_TK_X
|
360 |
422 |
6.32e-16 |
SMART |
|
coiled coil region
|
452 |
1244 |
N/A |
INTRINSIC |
|
coiled coil region
|
1297 |
1338 |
N/A |
INTRINSIC |
|
low complexity region
|
1368 |
1379 |
N/A |
INTRINSIC |
|
C1
|
1404 |
1452 |
1.97e-9 |
SMART |
|
PH
|
1485 |
1606 |
1.31e-8 |
SMART |
|
CNH
|
1633 |
1930 |
1.78e-112 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112008
AA Change: Y189C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: Y189C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
97 |
359 |
2.92e-89 |
SMART |
|
S_TK_X
|
360 |
422 |
6.32e-16 |
SMART |
|
coiled coil region
|
452 |
1202 |
N/A |
INTRINSIC |
|
coiled coil region
|
1255 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1337 |
N/A |
INTRINSIC |
|
C1
|
1362 |
1410 |
1.97e-9 |
SMART |
|
PH
|
1443 |
1564 |
1.31e-8 |
SMART |
|
CNH
|
1591 |
1888 |
1.78e-112 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137952
|
| SMART Domains |
Protein: ENSMUSP00000122745
Gene: ENSMUSG00000029516
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
97 |
175 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141101
AA Change: Y189C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: Y189C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
97 |
359 |
1.4e-91 |
SMART |
|
S_TK_X
|
360 |
422 |
3e-18 |
SMART |
|
low complexity region
|
632 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1114 |
N/A |
INTRINSIC |
|
low complexity region
|
1140 |
1161 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1201 |
1240 |
1.73e-5 |
PROSPERO |
|
low complexity region
|
1311 |
1322 |
N/A |
INTRINSIC |
|
C1
|
1347 |
1395 |
9.7e-12 |
SMART |
|
PH
|
1428 |
1549 |
6e-11 |
SMART |
|
CNH
|
1576 |
1873 |
8.6e-115 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201056
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148245
|
| SMART Domains |
Protein: ENSMUSP00000119769
Gene: ENSMUSG00000029516
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
97 |
181 |
7.6e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
97 |
181 |
9.5e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
T |
16: 88,504,668 (GRCm39) |
R43K |
possibly damaging |
Het |
| Acp1 |
A |
G |
12: 30,947,804 (GRCm39) |
I78T |
possibly damaging |
Het |
| Afap1l1 |
G |
T |
18: 61,876,365 (GRCm39) |
D417E |
probably benign |
Het |
| Agap2 |
G |
A |
10: 126,916,385 (GRCm39) |
V299I |
unknown |
Het |
| Ahnak |
C |
T |
19: 8,991,196 (GRCm39) |
A4160V |
possibly damaging |
Het |
| Anapc1 |
T |
C |
2: 128,517,810 (GRCm39) |
E278G |
probably damaging |
Het |
| Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,302,461 (GRCm39) |
E928G |
probably benign |
Het |
| Atp2b2 |
A |
C |
6: 113,819,244 (GRCm39) |
N16K |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,707 (GRCm39) |
E325G |
probably damaging |
Het |
| Bfsp2 |
C |
T |
9: 103,327,030 (GRCm39) |
G236S |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,600,296 (GRCm39) |
I545N |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
| Cdc42bpg |
A |
T |
19: 6,370,837 (GRCm39) |
H1310L |
possibly damaging |
Het |
| Ces1h |
T |
C |
8: 94,085,450 (GRCm39) |
K339E |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,144,659 (GRCm39) |
|
probably null |
Het |
| Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
| Cntrl |
A |
G |
2: 35,012,696 (GRCm39) |
D278G |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,164,895 (GRCm39) |
G1033D |
probably damaging |
Het |
| Col6a1 |
T |
G |
10: 76,557,783 (GRCm39) |
Y151S |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,646 (GRCm39) |
Q95L |
probably damaging |
Het |
| Cpd |
G |
T |
11: 76,677,164 (GRCm39) |
P1185Q |
probably damaging |
Het |
| Cycs |
T |
A |
6: 50,542,309 (GRCm39) |
I76F |
possibly damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,756,073 (GRCm39) |
I34N |
probably damaging |
Het |
| Ddx1 |
A |
C |
12: 13,279,332 (GRCm39) |
S436A |
probably benign |
Het |
| Defa30 |
A |
G |
8: 21,625,500 (GRCm39) |
Y88C |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,917,740 (GRCm39) |
L317F |
probably damaging |
Het |
| Dll3 |
C |
A |
7: 27,995,835 (GRCm39) |
G322V |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,881,753 (GRCm39) |
D2843N |
probably damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,515,133 (GRCm39) |
T266I |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,509,885 (GRCm39) |
I314V |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,744 (GRCm39) |
V48A |
unknown |
Het |
| Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
| Eri3 |
G |
A |
4: 117,506,562 (GRCm39) |
G297D |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,424 (GRCm39) |
E38G |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Frzb |
A |
G |
2: 80,276,724 (GRCm39) |
V154A |
possibly damaging |
Het |
| Fsip2 |
G |
T |
2: 82,823,601 (GRCm39) |
A6445S |
possibly damaging |
Het |
| Gm11938 |
G |
A |
11: 99,493,843 (GRCm39) |
T84I |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,425,108 (GRCm39) |
H350L |
probably damaging |
Het |
| Gpa33 |
A |
G |
1: 165,992,759 (GRCm39) |
I291V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,935 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gpsm1 |
G |
T |
2: 26,234,725 (GRCm39) |
G84W |
probably damaging |
Het |
| Hormad1 |
A |
G |
3: 95,487,317 (GRCm39) |
N267S |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,943,193 (GRCm39) |
I258F |
probably damaging |
Het |
| Htra4 |
T |
C |
8: 25,523,597 (GRCm39) |
T323A |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,254,813 (GRCm39) |
F162Y |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,099 (GRCm39) |
T54A |
probably damaging |
Het |
| Kcna4 |
T |
G |
2: 107,126,829 (GRCm39) |
V521G |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,113,565 (GRCm39) |
G768S |
possibly damaging |
Het |
| Kif6 |
G |
T |
17: 50,208,799 (GRCm39) |
A740S |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,755,468 (GRCm39) |
V248E |
probably damaging |
Het |
| Lamb1 |
T |
G |
12: 31,368,271 (GRCm39) |
C1134G |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,125,618 (GRCm39) |
Y552H |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,973,860 (GRCm39) |
T706S |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,168,193 (GRCm39) |
Y1541C |
probably damaging |
Het |
| Mnx1 |
C |
T |
5: 29,682,780 (GRCm39) |
S165N |
unknown |
Het |
| Morn3 |
A |
T |
5: 123,184,692 (GRCm39) |
|
probably null |
Het |
| Nalcn |
C |
T |
14: 123,697,824 (GRCm39) |
R484Q |
probably damaging |
Het |
| Nr4a1 |
T |
C |
15: 101,169,645 (GRCm39) |
I305T |
probably benign |
Het |
| Or1j11 |
C |
T |
2: 36,311,886 (GRCm39) |
H159Y |
probably damaging |
Het |
| Or2z2 |
G |
A |
11: 58,346,257 (GRCm39) |
R173W |
probably damaging |
Het |
| Pabir2 |
T |
A |
X: 52,342,933 (GRCm39) |
Q201H |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,393 (GRCm39) |
V591A |
possibly damaging |
Het |
| Pdia3 |
T |
C |
2: 121,262,144 (GRCm39) |
I205T |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,790,161 (GRCm39) |
D26E |
unknown |
Het |
| Phactr3 |
C |
A |
2: 177,924,940 (GRCm39) |
L292M |
probably damaging |
Het |
| Phf21b |
T |
A |
15: 84,738,963 (GRCm39) |
I21F |
probably benign |
Het |
| Pign |
A |
G |
1: 105,482,223 (GRCm39) |
V791A |
probably damaging |
Het |
| Pitpna |
A |
G |
11: 75,499,929 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
T |
5: 128,824,903 (GRCm39) |
E534* |
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,938,775 (GRCm39) |
I526F |
probably benign |
Het |
| Pms2 |
A |
T |
5: 143,862,714 (GRCm39) |
K607I |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,118,399 (GRCm39) |
N327K |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
| Polq |
C |
T |
16: 36,882,471 (GRCm39) |
T1545I |
probably benign |
Het |
| Psd4 |
G |
A |
2: 24,287,468 (GRCm39) |
E467K |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,959,499 (GRCm39) |
L198Q |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,479,188 (GRCm39) |
Y655C |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,770,541 (GRCm39) |
G117E |
probably damaging |
Het |
| Rad54b |
G |
A |
4: 11,601,669 (GRCm39) |
C408Y |
probably damaging |
Het |
| Ralb |
T |
A |
1: 119,403,797 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Rrm2 |
A |
G |
12: 24,763,151 (GRCm39) |
K218E |
probably damaging |
Het |
| Siglece |
A |
G |
7: 43,309,360 (GRCm39) |
F66S |
probably benign |
Het |
| Slc17a8 |
A |
T |
10: 89,442,627 (GRCm39) |
C69S |
unknown |
Het |
| Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,193,860 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
G |
A |
1: 72,625,258 (GRCm39) |
G135D |
possibly damaging |
Het |
| Snrnp70 |
T |
A |
7: 45,026,644 (GRCm39) |
R242* |
probably null |
Het |
| St3gal5 |
T |
C |
6: 72,109,077 (GRCm39) |
L55P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,908,661 (GRCm39) |
N558S |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,123,366 (GRCm39) |
I104V |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,870,292 (GRCm39) |
Y107N |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,891 (GRCm39) |
V187A |
probably benign |
Het |
| Tdrd9 |
G |
A |
12: 112,011,246 (GRCm39) |
G1152R |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,288,451 (GRCm39) |
Y9H |
probably benign |
Het |
| Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,608,254 (GRCm39) |
I251V |
probably benign |
Het |
| Trip12 |
T |
A |
1: 84,705,866 (GRCm39) |
N655Y |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,581,773 (GRCm39) |
V23040A |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,167,367 (GRCm39) |
N188K |
probably damaging |
Het |
| Ube2c |
C |
T |
2: 164,613,282 (GRCm39) |
H67Y |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,670,573 (GRCm39) |
P1899T |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,376,153 (GRCm39) |
A1879V |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,918,556 (GRCm39) |
S112L |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,036,052 (GRCm39) |
V2122E |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,973,168 (GRCm39) |
Y344C |
probably damaging |
Het |
| Zdbf2 |
GAAAAA |
GAAAAAA |
1: 63,344,701 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
A |
T |
15: 88,484,689 (GRCm39) |
H8L |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,881 (GRCm39) |
H383L |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,211 (GRCm39) |
I336T |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,476 (GRCm39) |
H505L |
probably damaging |
Het |
| Zfp84 |
T |
G |
7: 29,474,796 (GRCm39) |
F23V |
possibly damaging |
Het |
|
| Other mutations in Cit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Cit
|
APN |
5 |
115,984,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00482:Cit
|
APN |
5 |
116,076,814 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01317:Cit
|
APN |
5 |
116,046,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01335:Cit
|
APN |
5 |
116,046,889 (GRCm39) |
splice site |
probably benign |
|
|
IGL01415:Cit
|
APN |
5 |
116,079,962 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01447:Cit
|
APN |
5 |
116,011,902 (GRCm39) |
splice site |
probably benign |
|
|
IGL01537:Cit
|
APN |
5 |
116,071,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01621:Cit
|
APN |
5 |
116,130,662 (GRCm39) |
splice site |
probably benign |
|
|
IGL02010:Cit
|
APN |
5 |
116,014,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Cit
|
APN |
5 |
116,125,048 (GRCm39) |
nonsense |
probably null |
|
|
IGL02607:Cit
|
APN |
5 |
115,997,268 (GRCm39) |
missense |
probably benign |
|
|
IGL02720:Cit
|
APN |
5 |
116,133,511 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02725:Cit
|
APN |
5 |
116,123,532 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02967:Cit
|
APN |
5 |
116,083,896 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02973:Cit
|
APN |
5 |
116,144,058 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03383:Cit
|
APN |
5 |
116,011,904 (GRCm39) |
splice site |
probably benign |
|
|
PIT4514001:Cit
|
UTSW |
5 |
116,135,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Cit
|
UTSW |
5 |
116,132,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0206:Cit
|
UTSW |
5 |
116,132,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0226:Cit
|
UTSW |
5 |
116,122,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0320:Cit
|
UTSW |
5 |
116,117,504 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0401:Cit
|
UTSW |
5 |
116,123,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0480:Cit
|
UTSW |
5 |
116,071,452 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Cit
|
UTSW |
5 |
116,012,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0737:Cit
|
UTSW |
5 |
116,084,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Cit
|
UTSW |
5 |
115,989,280 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1503:Cit
|
UTSW |
5 |
116,011,959 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1551:Cit
|
UTSW |
5 |
116,083,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1602:Cit
|
UTSW |
5 |
116,135,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Cit
|
UTSW |
5 |
116,105,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1886:Cit
|
UTSW |
5 |
116,071,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Cit
|
UTSW |
5 |
116,143,899 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2024:Cit
|
UTSW |
5 |
116,085,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2048:Cit
|
UTSW |
5 |
116,024,872 (GRCm39) |
splice site |
probably null |
|
|
R2128:Cit
|
UTSW |
5 |
116,123,566 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2192:Cit
|
UTSW |
5 |
116,106,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2244:Cit
|
UTSW |
5 |
116,064,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Cit
|
UTSW |
5 |
116,125,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2679:Cit
|
UTSW |
5 |
116,107,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2898:Cit
|
UTSW |
5 |
116,012,037 (GRCm39) |
splice site |
probably null |
|
|
R2908:Cit
|
UTSW |
5 |
116,119,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3079:Cit
|
UTSW |
5 |
116,063,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3779:Cit
|
UTSW |
5 |
115,997,400 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4081:Cit
|
UTSW |
5 |
116,086,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Cit
|
UTSW |
5 |
116,012,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Cit
|
UTSW |
5 |
116,132,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4757:Cit
|
UTSW |
5 |
116,135,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Cit
|
UTSW |
5 |
116,071,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Cit
|
UTSW |
5 |
116,046,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Cit
|
UTSW |
5 |
116,126,182 (GRCm39) |
intron |
probably benign |
|
|
R4899:Cit
|
UTSW |
5 |
116,001,087 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4928:Cit
|
UTSW |
5 |
116,123,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5073:Cit
|
UTSW |
5 |
116,084,902 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5151:Cit
|
UTSW |
5 |
116,117,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Cit
|
UTSW |
5 |
116,126,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Cit
|
UTSW |
5 |
116,090,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5814:Cit
|
UTSW |
5 |
116,117,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Cit
|
UTSW |
5 |
116,063,598 (GRCm39) |
intron |
probably benign |
|
|
R5946:Cit
|
UTSW |
5 |
116,135,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Cit
|
UTSW |
5 |
115,984,464 (GRCm39) |
missense |
probably benign |
|
|
R6289:Cit
|
UTSW |
5 |
116,144,385 (GRCm39) |
makesense |
probably null |
|
|
R6298:Cit
|
UTSW |
5 |
116,086,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Cit
|
UTSW |
5 |
116,024,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6545:Cit
|
UTSW |
5 |
115,984,493 (GRCm39) |
missense |
probably null |
0.00 |
|
R6761:Cit
|
UTSW |
5 |
116,046,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Cit
|
UTSW |
5 |
116,064,585 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6814:Cit
|
UTSW |
5 |
116,023,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Cit
|
UTSW |
5 |
116,119,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6845:Cit
|
UTSW |
5 |
116,122,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Cit
|
UTSW |
5 |
116,132,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7164:Cit
|
UTSW |
5 |
116,123,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7359:Cit
|
UTSW |
5 |
116,064,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Cit
|
UTSW |
5 |
116,024,740 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Cit
|
UTSW |
5 |
116,122,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7763:Cit
|
UTSW |
5 |
116,125,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7786:Cit
|
UTSW |
5 |
116,001,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7799:Cit
|
UTSW |
5 |
116,001,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8060:Cit
|
UTSW |
5 |
116,046,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8068:Cit
|
UTSW |
5 |
116,120,294 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8068:Cit
|
UTSW |
5 |
116,090,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Cit
|
UTSW |
5 |
116,107,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Cit
|
UTSW |
5 |
116,126,218 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8178:Cit
|
UTSW |
5 |
116,107,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Cit
|
UTSW |
5 |
116,126,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Cit
|
UTSW |
5 |
116,122,603 (GRCm39) |
splice site |
probably null |
|
|
R8397:Cit
|
UTSW |
5 |
116,024,856 (GRCm39) |
missense |
probably benign |
|
|
R8489:Cit
|
UTSW |
5 |
116,083,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8784:Cit
|
UTSW |
5 |
115,984,442 (GRCm39) |
nonsense |
probably null |
|
|
R8798:Cit
|
UTSW |
5 |
116,107,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8882:Cit
|
UTSW |
5 |
116,001,089 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8984:Cit
|
UTSW |
5 |
116,064,534 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9091:Cit
|
UTSW |
5 |
115,984,161 (GRCm39) |
intron |
probably benign |
|
|
R9127:Cit
|
UTSW |
5 |
116,074,896 (GRCm39) |
nonsense |
probably null |
|
|
R9204:Cit
|
UTSW |
5 |
116,126,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9212:Cit
|
UTSW |
5 |
116,013,952 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9279:Cit
|
UTSW |
5 |
116,065,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Cit
|
UTSW |
5 |
116,123,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Cit
|
UTSW |
5 |
116,084,914 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9520:Cit
|
UTSW |
5 |
116,079,954 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Cit
|
UTSW |
5 |
116,123,592 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1176:Cit
|
UTSW |
5 |
116,124,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCTGAGGATCCGTCTC -3'
(R):5'- GAGTTGTCAGCCAATCACAGG -3'
Sequencing Primer
(F):5'- GTCTCGCACATGGACATTGC -3'
(R):5'- CCAATCACAGGGTGGCTAAAACTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation