Incidental Mutation 'R1520:Uaca'
| ID |
167381 |
| 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 |
039564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R1520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60778663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1017
(T1017S)
|
| 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: T1017S
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: T1017S
| 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: T1015S
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: T839S
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,844,664 (GRCm39) |
N1491S |
possibly damaging |
Het |
| Abcb1b |
G |
A |
5: 8,864,768 (GRCm39) |
A249T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,340,001 (GRCm39) |
D804G |
possibly damaging |
Het |
| Agpat3 |
A |
T |
10: 78,123,857 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
A |
C |
13: 4,326,298 (GRCm39) |
I61R |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,108,551 (GRCm39) |
A320V |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,231 (GRCm39) |
Y410* |
probably null |
Het |
| Arhgef1 |
A |
G |
7: 24,619,129 (GRCm39) |
R454G |
probably damaging |
Het |
| C1ql4 |
T |
C |
15: 98,985,548 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,725,857 (GRCm39) |
S3029P |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,302 (GRCm39) |
C191R |
unknown |
Het |
| Corin |
A |
C |
5: 72,488,238 (GRCm39) |
C627G |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,263 (GRCm39) |
Y308C |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,471,849 (GRCm39) |
N420S |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,266 (GRCm39) |
S889P |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,562,953 (GRCm39) |
H267R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,839,644 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
G |
T |
1: 166,495,024 (GRCm39) |
H292Q |
probably benign |
Het |
| Frmpd4 |
T |
C |
X: 166,275,949 (GRCm39) |
S373G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,058 (GRCm39) |
I2459K |
possibly damaging |
Het |
| Gbp5 |
A |
T |
3: 142,213,775 (GRCm39) |
H523L |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,434 (GRCm39) |
V29A |
probably benign |
Het |
| Igkv7-33 |
T |
A |
6: 70,036,132 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
G |
A |
4: 129,510,762 (GRCm39) |
T251I |
possibly damaging |
Het |
| Jund |
A |
G |
8: 71,151,923 (GRCm39) |
T73A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,681,375 (GRCm39) |
V617A |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,065,493 (GRCm39) |
F646L |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,641,129 (GRCm39) |
K54E |
probably damaging |
Het |
| Mutyh |
T |
C |
4: 116,674,749 (GRCm39) |
L357P |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,896,821 (GRCm39) |
|
probably null |
Het |
| Or4k41 |
G |
A |
2: 111,279,619 (GRCm39) |
V45I |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,323,411 (GRCm39) |
D224V |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,835,863 (GRCm39) |
I469T |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,772,898 (GRCm39) |
V1043A |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,020,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,868 (GRCm39) |
F192L |
probably benign |
Het |
| Prkra |
T |
C |
2: 76,469,622 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rag2 |
T |
C |
2: 101,460,476 (GRCm39) |
I262T |
probably damaging |
Het |
| Rgr |
A |
G |
14: 36,766,672 (GRCm39) |
W125R |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,620 (GRCm39) |
F211I |
probably benign |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Serinc2 |
C |
T |
4: 130,154,543 (GRCm39) |
V234I |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,304,354 (GRCm39) |
M434T |
possibly damaging |
Het |
| Srrt |
C |
A |
5: 137,297,028 (GRCm39) |
R69L |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,807,077 (GRCm39) |
L191P |
probably damaging |
Het |
| Tcf12 |
C |
A |
9: 71,790,388 (GRCm39) |
|
probably null |
Het |
| Tmem273 |
A |
T |
14: 32,527,083 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
T |
C |
2: 128,681,176 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,647,392 (GRCm39) |
E11031G |
possibly damaging |
Het |
| Urb1 |
C |
A |
16: 90,571,633 (GRCm39) |
V1059L |
probably benign |
Het |
| V1rd19 |
G |
A |
7: 23,702,623 (GRCm39) |
A30T |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,217,943 (GRCm39) |
L91F |
probably damaging |
Het |
| Vldlr |
G |
T |
19: 27,224,466 (GRCm39) |
A770S |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,594 (GRCm39) |
T807A |
probably damaging |
Het |
| Wwox |
C |
T |
8: 115,438,873 (GRCm39) |
P313L |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,810,036 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,144 (GRCm39) |
I453V |
possibly 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 |
|
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 |
|
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'- ATCGTCTCGCTCCACGCTGAAATC -3'
(R):5'- AGGGCTTCCTTTAGCTTCAGGTGC -3'
Sequencing Primer
(F):5'- TCCACGCTGAAATCAAGGC -3'
(R):5'- TTGGGACAGGTCCTTCAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation