Incidental Mutation 'R9477:Uaca'
| ID |
715872 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R9477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60778108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 832
(S832P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050183
AA Change: S832P
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: S832P
| 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 benign
Transcript: ENSMUST00000214354
AA Change: S830P
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
T |
1: 89,765,485 (GRCm39) |
M618L |
probably benign |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,282 (GRCm39) |
I89N |
probably damaging |
Het |
| App |
C |
A |
16: 84,853,392 (GRCm39) |
A229S |
unknown |
Het |
| B020011L13Rik |
G |
T |
1: 117,728,903 (GRCm39) |
E137* |
probably null |
Het |
| BC034090 |
C |
T |
1: 155,102,087 (GRCm39) |
G59E |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,499,455 (GRCm39) |
D547G |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,755,212 (GRCm39) |
D774E |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,201 (GRCm39) |
N1104D |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,720,743 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
T |
8: 105,560,556 (GRCm39) |
N124Y |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,985,032 (GRCm39) |
T959A |
probably benign |
Het |
| Chaf1a |
A |
T |
17: 56,369,244 (GRCm39) |
K492* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,620 (GRCm39) |
V334A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,706,621 (GRCm39) |
I2771T |
unknown |
Het |
| Creb3 |
T |
C |
4: 43,566,298 (GRCm39) |
L244P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,816,956 (GRCm39) |
V171A |
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,446,182 (GRCm39) |
Y613H |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,819 (GRCm39) |
V416I |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,976,868 (GRCm39) |
V272A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 99,936,784 (GRCm39) |
S32P |
probably damaging |
Het |
| Dpp10 |
G |
T |
1: 123,304,370 (GRCm39) |
T510K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,205,292 (GRCm39) |
Y820C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,836,698 (GRCm39) |
H3562L |
unknown |
Het |
| Fam3c |
A |
T |
6: 22,308,479 (GRCm39) |
M238K |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,265 (GRCm39) |
F1263L |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,159,803 (GRCm39) |
C484S |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,295,720 (GRCm39) |
L97P |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,431,682 (GRCm39) |
I310V |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,314 (GRCm39) |
N23I |
probably benign |
Het |
| Gpr21 |
T |
A |
2: 37,408,386 (GRCm39) |
F311I |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,405 (GRCm39) |
E741G |
probably benign |
Het |
| Gsto2 |
G |
A |
19: 47,864,911 (GRCm39) |
R148H |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,368,813 (GRCm39) |
V27A |
probably benign |
Het |
| Hbp1 |
A |
G |
12: 31,980,766 (GRCm39) |
C446R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,286,031 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
G |
A |
1: 173,854,155 (GRCm39) |
T166I |
probably benign |
Het |
| Il23a |
T |
A |
10: 128,133,922 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,936,409 (GRCm39) |
C362S |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 66,993,734 (GRCm39) |
R72* |
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,716,361 (GRCm39) |
I176T |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,638,779 (GRCm39) |
K1517E |
probably benign |
Het |
| Mbnl1 |
A |
G |
3: 60,520,769 (GRCm39) |
D119G |
probably damaging |
Het |
| Mfsd8 |
A |
G |
3: 40,785,057 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
G |
5: 148,014,740 (GRCm39) |
V511G |
probably benign |
Het |
| Myot |
A |
C |
18: 44,470,333 (GRCm39) |
Q103H |
probably benign |
Het |
| Nrip2 |
G |
A |
6: 128,377,145 (GRCm39) |
D24N |
probably benign |
Het |
| Ntm |
T |
A |
9: 29,322,922 (GRCm39) |
S33C |
probably benign |
Het |
| Nus1 |
C |
T |
10: 52,294,001 (GRCm39) |
T55M |
possibly damaging |
Het |
| Or4c112 |
G |
A |
2: 88,853,615 (GRCm39) |
T244I |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,922,973 (GRCm39) |
|
probably null |
Het |
| Pogk |
T |
C |
1: 166,227,404 (GRCm39) |
N249S |
probably damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,320,503 (GRCm39) |
T66I |
possibly damaging |
Het |
| Ppp1r42 |
T |
G |
1: 10,055,854 (GRCm39) |
K211N |
probably damaging |
Het |
| Ppp2r3d |
C |
A |
9: 124,476,857 (GRCm38) |
D2Y |
|
Het |
| Prdm5 |
A |
T |
6: 65,771,342 (GRCm39) |
N51I |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 52,001,342 (GRCm39) |
A1599T |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,921,981 (GRCm39) |
A520T |
|
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spice1 |
T |
A |
16: 44,197,183 (GRCm39) |
N489K |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,132,624 (GRCm39) |
M116T |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,025,500 (GRCm39) |
N249Y |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,410,706 (GRCm39) |
|
probably null |
Het |
| Trhde |
T |
A |
10: 114,338,980 (GRCm39) |
E610V |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,745,471 (GRCm39) |
S290P |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,747,224 (GRCm39) |
V1425M |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,128 (GRCm39) |
D1472V |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,261 (GRCm39) |
V53G |
possibly damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,168,910 (GRCm39) |
I740N |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,218,244 (GRCm39) |
C18Y |
possibly damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,188 (GRCm39) |
I177M |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,428 (GRCm39) |
I895T |
probably benign |
Het |
| Zfp58 |
C |
A |
13: 67,640,158 (GRCm39) |
C111F |
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 |
|
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 |
|
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 |
|
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'- AAGCTTTCGGAGGCAACAC -3'
(R):5'- GTTTTGAAACCTCCTGGCTCG -3'
Sequencing Primer
(F):5'- CTTTCGGAGGCAACACAGAGATAC -3'
(R):5'- TGGCTCGTGTCGTCAAAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation