Incidental Mutation 'R6193:Uaca'
| ID |
502725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uaca
|
| Ensembl Gene |
ENSMUSG00000034485 |
| Gene Name |
uveal autoantigen with coiled-coil domains and ankyrin repeats |
| Synonyms |
nucling, 2700059D02Rik |
| MMRRC Submission |
044333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60777326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 571
(R571Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050183
AA Change: R571Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: R571Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
ANK
|
35 |
68 |
2.66e3 |
SMART |
|
ANK
|
69 |
98 |
1.96e-3 |
SMART |
|
ANK
|
102 |
131 |
1.65e-1 |
SMART |
|
ANK
|
135 |
164 |
1.38e-3 |
SMART |
|
ANK
|
168 |
197 |
3.65e-3 |
SMART |
|
ANK
|
201 |
230 |
6.26e-2 |
SMART |
|
Blast:ANK
|
234 |
263 |
7e-9 |
BLAST |
|
coiled coil region
|
301 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
626 |
N/A |
INTRINSIC |
|
Pfam:TolA_bind_tri
|
869 |
943 |
4e-11 |
PFAM |
|
coiled coil region
|
1009 |
1382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214354
AA Change: R569Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217656
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice display swelling of and inflammatory lesions in the preputial gland. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
G |
15: 60,792,629 (GRCm39) |
I106T |
probably benign |
Het |
| Aagab |
A |
C |
9: 63,524,795 (GRCm39) |
N35H |
possibly damaging |
Het |
| Abcf1 |
A |
C |
17: 36,274,464 (GRCm39) |
N161K |
possibly damaging |
Het |
| Adam11 |
T |
A |
11: 102,662,087 (GRCm39) |
H140Q |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef26 |
A |
T |
3: 62,247,213 (GRCm39) |
D99V |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,121,888 (GRCm39) |
S559P |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,430 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
T |
C |
11: 4,101,912 (GRCm39) |
H3R |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,927,778 (GRCm39) |
L101P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,464,993 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cnot6 |
T |
A |
11: 49,570,850 (GRCm39) |
I381F |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,185,092 (GRCm39) |
I675F |
probably benign |
Het |
| Cplx2 |
C |
T |
13: 54,527,406 (GRCm39) |
P97S |
probably damaging |
Het |
| Crtac1 |
T |
A |
19: 42,312,236 (GRCm39) |
E159V |
possibly damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,231 (GRCm39) |
I416V |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,014 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp2d9 |
A |
G |
15: 82,336,728 (GRCm39) |
T26A |
probably benign |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,440 (GRCm39) |
R503S |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,424,292 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
T |
5: 108,803,366 (GRCm39) |
C231* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,730,679 (GRCm39) |
M38K |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,231,081 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,326,961 (GRCm39) |
D411E |
probably benign |
Het |
| Ephx2 |
T |
G |
14: 66,349,669 (GRCm39) |
Q34P |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,448,517 (GRCm39) |
N1092Y |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,057,197 (GRCm39) |
K415* |
probably null |
Het |
| Gfi1 |
A |
T |
5: 107,869,397 (GRCm39) |
Y278N |
probably benign |
Het |
| Gm11565 |
T |
C |
11: 99,806,070 (GRCm39) |
M154T |
probably benign |
Het |
| Gm7247 |
A |
G |
14: 51,759,299 (GRCm39) |
I93V |
possibly damaging |
Het |
| Golm1 |
T |
G |
13: 59,792,972 (GRCm39) |
I178L |
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,874,219 (GRCm39) |
D302V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,456,254 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
A |
7: 55,806,649 (GRCm39) |
P2372T |
probably damaging |
Het |
| Ighv1-59 |
C |
A |
12: 115,298,786 (GRCm39) |
L89F |
probably damaging |
Het |
| Ighv7-4 |
G |
A |
12: 114,186,445 (GRCm39) |
A109V |
possibly damaging |
Het |
| Kcnk10 |
G |
T |
12: 98,407,031 (GRCm39) |
Q222K |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,881 (GRCm39) |
M159K |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,479,306 (GRCm39) |
T36A |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,724,854 (GRCm39) |
Y443* |
probably null |
Het |
| Mmp23 |
T |
A |
4: 155,735,990 (GRCm39) |
M221L |
possibly damaging |
Het |
| Mmp7 |
T |
A |
9: 7,695,519 (GRCm39) |
V132E |
probably damaging |
Het |
| Npas2 |
C |
A |
1: 39,331,843 (GRCm39) |
T86N |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,650 (GRCm39) |
H86L |
probably benign |
Het |
| Or5al7 |
C |
T |
2: 85,992,628 (GRCm39) |
V222M |
possibly damaging |
Het |
| Papola |
A |
T |
12: 105,786,605 (GRCm39) |
E103V |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,767,921 (GRCm39) |
N34Y |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,666 (GRCm39) |
D407G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,080 (GRCm39) |
Y487D |
probably damaging |
Het |
| Pira12 |
C |
G |
7: 3,901,049 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
C |
1: 149,778,181 (GRCm39) |
D5G |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,971 (GRCm39) |
L733P |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,251,899 (GRCm39) |
D425G |
probably benign |
Het |
| Prss2 |
T |
G |
6: 41,498,754 (GRCm39) |
I6S |
unknown |
Het |
| Psme3ip1 |
A |
G |
8: 95,302,348 (GRCm39) |
S228P |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,142 (GRCm39) |
F321I |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,344,979 (GRCm39) |
I1693L |
probably benign |
Het |
| Rad52 |
T |
C |
6: 119,897,143 (GRCm39) |
V324A |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,751 (GRCm39) |
Y1352N |
possibly damaging |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Scaf1 |
A |
G |
7: 44,656,204 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
T |
C |
6: 85,246,918 (GRCm39) |
T131A |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,073,701 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,183 (GRCm39) |
D62G |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,336,597 (GRCm39) |
V357A |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,937,621 (GRCm39) |
D1685V |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,543 (GRCm39) |
T315A |
probably benign |
Het |
| Tmem266 |
T |
C |
9: 55,344,493 (GRCm39) |
L375P |
probably benign |
Het |
| Tsks |
T |
G |
7: 44,603,263 (GRCm39) |
L355R |
probably damaging |
Het |
| Ube2f |
T |
A |
1: 91,203,041 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,532,087 (GRCm39) |
V102D |
probably damaging |
Het |
| Usp44 |
G |
A |
10: 93,683,010 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,575,983 (GRCm39) |
F527S |
probably benign |
Het |
| Zfp101 |
A |
C |
17: 33,600,720 (GRCm39) |
Y345* |
probably null |
Het |
| Zfp160 |
C |
A |
17: 21,247,124 (GRCm39) |
A558E |
probably benign |
Het |
| Zfp236 |
T |
C |
18: 82,622,372 (GRCm39) |
E1686G |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,586 (GRCm39) |
D481E |
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,952,774 (GRCm39) |
V396A |
probably benign |
Het |
|
| Other mutations in Uaca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Uaca
|
APN |
9 |
60,779,507 (GRCm39) |
missense |
probably benign |
|
|
IGL01751:Uaca
|
APN |
9 |
60,777,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Uaca
|
APN |
9 |
60,770,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Uaca
|
APN |
9 |
60,773,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03037:Uaca
|
APN |
9 |
60,748,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Uaca
|
APN |
9 |
60,777,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Uaca
|
APN |
9 |
60,770,945 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03266:Uaca
|
APN |
9 |
60,770,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Uaca
|
APN |
9 |
60,761,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ixtapa
|
UTSW |
9 |
60,777,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
oaxaca
|
UTSW |
9 |
60,778,733 (GRCm39) |
missense |
probably benign |
|
|
R0408:Uaca
|
UTSW |
9 |
60,779,141 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0567:Uaca
|
UTSW |
9 |
60,778,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0598:Uaca
|
UTSW |
9 |
60,778,203 (GRCm39) |
nonsense |
probably null |
|
|
R0603:Uaca
|
UTSW |
9 |
60,778,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0655:Uaca
|
UTSW |
9 |
60,779,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0707:Uaca
|
UTSW |
9 |
60,755,900 (GRCm39) |
splice site |
probably benign |
|
|
R0791:Uaca
|
UTSW |
9 |
60,779,341 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1466:Uaca
|
UTSW |
9 |
60,761,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1466:Uaca
|
UTSW |
9 |
60,761,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1520:Uaca
|
UTSW |
9 |
60,778,663 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1673:Uaca
|
UTSW |
9 |
60,779,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Uaca
|
UTSW |
9 |
60,777,718 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1997:Uaca
|
UTSW |
9 |
60,777,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Uaca
|
UTSW |
9 |
60,777,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Uaca
|
UTSW |
9 |
60,748,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2148:Uaca
|
UTSW |
9 |
60,776,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Uaca
|
UTSW |
9 |
60,777,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Uaca
|
UTSW |
9 |
60,778,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Uaca
|
UTSW |
9 |
60,778,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4001:Uaca
|
UTSW |
9 |
60,778,366 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4155:Uaca
|
UTSW |
9 |
60,779,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4156:Uaca
|
UTSW |
9 |
60,779,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4157:Uaca
|
UTSW |
9 |
60,779,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4410:Uaca
|
UTSW |
9 |
60,777,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Uaca
|
UTSW |
9 |
60,761,711 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4871:Uaca
|
UTSW |
9 |
60,753,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Uaca
|
UTSW |
9 |
60,787,510 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5328:Uaca
|
UTSW |
9 |
60,777,814 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5358:Uaca
|
UTSW |
9 |
60,778,430 (GRCm39) |
missense |
probably benign |
|
|
R5415:Uaca
|
UTSW |
9 |
60,777,421 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5437:Uaca
|
UTSW |
9 |
60,778,733 (GRCm39) |
missense |
probably benign |
|
|
R5647:Uaca
|
UTSW |
9 |
60,779,380 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5710:Uaca
|
UTSW |
9 |
60,779,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Uaca
|
UTSW |
9 |
60,776,885 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5931:Uaca
|
UTSW |
9 |
60,779,294 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5933:Uaca
|
UTSW |
9 |
60,748,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Uaca
|
UTSW |
9 |
60,778,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Uaca
|
UTSW |
9 |
60,777,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6242:Uaca
|
UTSW |
9 |
60,777,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6243:Uaca
|
UTSW |
9 |
60,777,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6244:Uaca
|
UTSW |
9 |
60,777,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6274:Uaca
|
UTSW |
9 |
60,757,573 (GRCm39) |
splice site |
probably null |
|
|
R6670:Uaca
|
UTSW |
9 |
60,779,306 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6883:Uaca
|
UTSW |
9 |
60,777,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Uaca
|
UTSW |
9 |
60,777,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Uaca
|
UTSW |
9 |
60,779,120 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7146:Uaca
|
UTSW |
9 |
60,777,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7424:Uaca
|
UTSW |
9 |
60,777,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Uaca
|
UTSW |
9 |
60,753,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Uaca
|
UTSW |
9 |
60,757,487 (GRCm39) |
splice site |
probably null |
|
|
R7688:Uaca
|
UTSW |
9 |
60,781,409 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7724:Uaca
|
UTSW |
9 |
60,777,187 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7743:Uaca
|
UTSW |
9 |
60,783,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8556:Uaca
|
UTSW |
9 |
60,777,923 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8699:Uaca
|
UTSW |
9 |
60,778,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Uaca
|
UTSW |
9 |
60,773,680 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8828:Uaca
|
UTSW |
9 |
60,778,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9475:Uaca
|
UTSW |
9 |
60,779,498 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9477:Uaca
|
UTSW |
9 |
60,778,108 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9509:Uaca
|
UTSW |
9 |
60,779,498 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0067:Uaca
|
UTSW |
9 |
60,766,431 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Uaca
|
UTSW |
9 |
60,781,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGAAGATGCCCTCAAAG -3'
(R):5'- ACAGAAAGGGCCAGCTTAGC -3'
Sequencing Primer
(F):5'- GATGCCCTCAAAGACGTGCAG -3'
(R):5'- GCCAGCTTAGCCCCCAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation