Incidental Mutation 'R7724:Uaca'
| ID |
595402 |
| 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 |
045780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60777187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 525
(T525A)
|
| 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: T525A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: T525A
| 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: T523A
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
C |
15: 57,885,857 (GRCm39) |
S342A |
probably benign |
Het |
| Adarb2 |
C |
A |
13: 8,620,292 (GRCm39) |
H259Q |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,682,289 (GRCm39) |
I150N |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,567 (GRCm39) |
I75N |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,529,816 (GRCm39) |
G480S |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,604,060 (GRCm39) |
Y208H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,813 (GRCm39) |
N1168Y |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,686 (GRCm39) |
N148D |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,700 (GRCm39) |
D765Y |
probably damaging |
Het |
| Celf4 |
C |
T |
18: 25,619,850 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
G |
A |
10: 41,621,838 (GRCm39) |
T26M |
possibly damaging |
Het |
| Ces2g |
T |
A |
8: 105,693,484 (GRCm39) |
D388E |
probably benign |
Het |
| Cir1 |
T |
C |
2: 73,137,234 (GRCm39) |
N69S |
possibly damaging |
Het |
| Ctc1 |
C |
A |
11: 68,917,170 (GRCm39) |
H355N |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,661,489 (GRCm39) |
K539M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,175,622 (GRCm39) |
G1697E |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,936,432 (GRCm39) |
D76G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,642,894 (GRCm39) |
S1786T |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,229,888 (GRCm39) |
E18D |
probably damaging |
Het |
| Gbp8 |
A |
T |
5: 105,179,160 (GRCm39) |
I113N |
probably damaging |
Het |
| Gm10549 |
A |
T |
18: 33,603,912 (GRCm39) |
R132* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,893,074 (GRCm39) |
D126E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,472,074 (GRCm39) |
Y472H |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,789 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,230,323 (GRCm39) |
N187S |
unknown |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,405 (GRCm39) |
K351E |
probably benign |
Het |
| Klhl23 |
A |
G |
2: 69,655,056 (GRCm39) |
T309A |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,877 (GRCm39) |
V19A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,534,170 (GRCm39) |
R243C |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,243 (GRCm39) |
I1158R |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,833 (GRCm39) |
Y613N |
probably damaging |
Het |
| Myoc |
T |
A |
1: 162,467,396 (GRCm39) |
|
probably null |
Het |
| Npas3 |
C |
A |
12: 54,115,124 (GRCm39) |
S682Y |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,274,887 (GRCm39) |
V172A |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,208 (GRCm39) |
H179Q |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,735,470 (GRCm39) |
C243* |
probably null |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,459 (GRCm39) |
Y52H |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,338,949 (GRCm39) |
T49A |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,775 (GRCm39) |
S32T |
possibly damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,436 (GRCm39) |
I331F |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,937 (GRCm39) |
T348S |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,746 (GRCm39) |
E185G |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,600,576 (GRCm39) |
K200E |
possibly damaging |
Het |
| Sema6c |
A |
T |
3: 95,080,510 (GRCm39) |
R935W |
probably damaging |
Het |
| Serpinb5 |
A |
T |
1: 106,802,872 (GRCm39) |
I136F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,622,289 (GRCm39) |
Y31* |
probably null |
Het |
| St6galnac1 |
C |
T |
11: 116,656,898 (GRCm39) |
|
probably null |
Het |
| Synj1 |
G |
A |
16: 90,758,387 (GRCm39) |
T819M |
probably damaging |
Het |
| Tacr3 |
T |
A |
3: 134,635,669 (GRCm39) |
V291E |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,875,390 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,036,291 (GRCm39) |
D72E |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,727 (GRCm39) |
T438A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,940,270 (GRCm39) |
C384S |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,170 (GRCm39) |
D290G |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,805,919 (GRCm39) |
L18P |
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 |
|
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'- GTTCCAAAACGAACTGGCTC -3'
(R):5'- GACTTCACATGTGCCGCATTC -3'
Sequencing Primer
(F):5'- AACTGGCTCACAAGGTGGC -3'
(R):5'- TTGAACTCTCCCACCAGCATC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation