Incidental Mutation 'R1673:Uaca'
| ID |
187819 |
| 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 |
039709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R1673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60779438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 1273
(L1273H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151172
(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: L1275H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: L1275H
| 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: L1273H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217656
AA Change: L1097H
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,103,165 (GRCm39) |
S809G |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,725,161 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
G |
1: 92,934,606 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,028,689 (GRCm39) |
I926T |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,504,988 (GRCm39) |
N314I |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,927,113 (GRCm39) |
S81P |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,007,086 (GRCm39) |
K554* |
probably null |
Het |
| Celsr1 |
A |
G |
15: 85,816,658 (GRCm39) |
Y1762H |
probably benign |
Het |
| Cklf |
A |
G |
8: 104,983,983 (GRCm39) |
T49A |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,600,820 (GRCm39) |
I755L |
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,715,368 (GRCm39) |
Q140* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,294,967 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
C |
A |
7: 119,570,402 (GRCm39) |
E2262* |
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,294 (GRCm39) |
N1228S |
probably benign |
Het |
| Dsg1a |
G |
A |
18: 20,464,561 (GRCm39) |
R352Q |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,042,679 (GRCm39) |
F25L |
probably damaging |
Het |
| Efhd1 |
T |
A |
1: 87,192,404 (GRCm39) |
V78D |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,847,967 (GRCm39) |
|
probably null |
Het |
| Elp2 |
T |
A |
18: 24,744,983 (GRCm39) |
V101D |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,773,592 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,007,089 (GRCm39) |
T298A |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,146,129 (GRCm39) |
R584L |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,211,196 (GRCm39) |
F368L |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,720,356 (GRCm39) |
I409T |
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,473,655 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,537,637 (GRCm39) |
Q224* |
probably null |
Het |
| Hdac5 |
C |
T |
11: 102,089,631 (GRCm39) |
V860M |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,212,417 (GRCm39) |
R1302C |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,838,966 (GRCm39) |
I110F |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,846,036 (GRCm39) |
T822A |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,302,851 (GRCm39) |
D214G |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,869,060 (GRCm39) |
L264Q |
probably benign |
Het |
| Mpnd |
A |
T |
17: 56,317,455 (GRCm39) |
Y64F |
probably damaging |
Het |
| Muc1 |
T |
A |
3: 89,139,079 (GRCm39) |
M520K |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,276 (GRCm39) |
S189T |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,242,945 (GRCm39) |
S953P |
possibly damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,230 (GRCm39) |
M281L |
probably benign |
Het |
| Nipal2 |
A |
G |
15: 34,648,841 (GRCm39) |
I116T |
probably damaging |
Het |
| Nptn |
T |
C |
9: 58,531,015 (GRCm39) |
L46P |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,214 (GRCm39) |
S160T |
probably damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,552 (GRCm39) |
T192A |
probably benign |
Het |
| Or51ag1 |
C |
A |
7: 103,155,896 (GRCm39) |
V86F |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,325 (GRCm39) |
F113I |
probably damaging |
Het |
| Pgr |
A |
T |
9: 8,902,069 (GRCm39) |
Y534F |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,877,093 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
C |
G |
8: 117,767,514 (GRCm39) |
V1259L |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,085,426 (GRCm39) |
E457G |
probably damaging |
Het |
| Rasa4 |
T |
A |
5: 136,133,491 (GRCm39) |
V650D |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,713,766 (GRCm39) |
|
probably benign |
Het |
| Rps18-ps6 |
A |
T |
13: 97,896,868 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Sdc1 |
G |
A |
12: 8,840,409 (GRCm39) |
R62Q |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 141,934,261 (GRCm39) |
E366G |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,433,248 (GRCm39) |
H2406Q |
probably damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,949,891 (GRCm39) |
V397A |
probably benign |
Het |
| Slc36a2 |
A |
T |
11: 55,075,739 (GRCm39) |
L16H |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,468 (GRCm39) |
V334A |
probably benign |
Het |
| Sox8 |
A |
T |
17: 25,786,456 (GRCm39) |
Y416N |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,387,807 (GRCm39) |
V1416A |
possibly damaging |
Het |
| Stimate |
T |
C |
14: 30,586,391 (GRCm39) |
L72S |
possibly damaging |
Het |
| Stk24 |
T |
A |
14: 121,574,983 (GRCm39) |
I42F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,498 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,685,646 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,880 (GRCm39) |
R417W |
probably damaging |
Het |
| Trim12a |
T |
A |
7: 103,955,264 (GRCm39) |
D153V |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,778,778 (GRCm39) |
N396S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,637,427 (GRCm39) |
K5695R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,631 (GRCm39) |
R11960C |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,310,906 (GRCm39) |
|
probably null |
Het |
| Usp33 |
A |
G |
3: 152,073,919 (GRCm39) |
E255G |
probably damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,350,138 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,423,315 (GRCm39) |
F116L |
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
| Zbtb12 |
TCATC |
TCATCCATC |
17: 35,115,286 (GRCm39) |
|
probably null |
Het |
| Zfp408 |
G |
A |
2: 91,476,353 (GRCm39) |
T367I |
probably damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,286 (GRCm39) |
A480V |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,949 (GRCm39) |
T638A |
probably benign |
Het |
| Zfp932 |
G |
T |
5: 110,156,854 (GRCm39) |
G151V |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,302,696 (GRCm39) |
K320E |
probably damaging |
Het |
| Zranb2 |
C |
T |
3: 157,243,277 (GRCm39) |
P91L |
probably damaging |
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 |
|
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 |
|
R6193:Uaca
|
UTSW |
9 |
60,777,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CAAACTCCAGACGGAGGTTCAGAC -3'
(R):5'- AATGGCTTGGTAGACCGGACTGTG -3'
Sequencing Primer
(F):5'- CGGAGGTTCAGACCACCAAG -3'
(R):5'- TTCTGTGCTAAGGAGCCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation