Incidental Mutation 'R8828:Uaca'
| ID |
673617 |
| 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 |
068730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R8828 (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 A
at 60778852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1080
(S1080T)
|
| 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: S1080T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: S1080T
| 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: S1078T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
T |
16: 56,507,455 (GRCm39) |
Y1091F |
probably damaging |
Het |
| Arl8b |
A |
G |
6: 108,792,250 (GRCm39) |
I104V |
probably benign |
Het |
| Asb2 |
C |
A |
12: 103,304,457 (GRCm39) |
G16C |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,945,836 (GRCm39) |
S2468G |
probably damaging |
Het |
| Capns1 |
T |
A |
7: 29,889,963 (GRCm39) |
D182V |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,594,658 (GRCm39) |
H182R |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,247,097 (GRCm39) |
V1024I |
probably damaging |
Het |
| Chd8 |
CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG |
C |
14: 52,448,037 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
C |
8: 16,048,794 (GRCm39) |
S2303G |
probably benign |
Het |
| Ctsl |
A |
G |
13: 64,514,314 (GRCm39) |
S255P |
probably damaging |
Het |
| Dclre1c |
T |
G |
2: 3,444,714 (GRCm39) |
N268K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,521,134 (GRCm39) |
D1158G |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,757,797 (GRCm39) |
D102E |
probably benign |
Het |
| Dvl3 |
T |
A |
16: 20,344,495 (GRCm39) |
D290E |
probably damaging |
Het |
| Fam72a |
T |
A |
1: 131,458,461 (GRCm39) |
C74* |
probably null |
Het |
| Gnrh1 |
T |
A |
14: 67,985,334 (GRCm39) |
L73Q |
probably damaging |
Het |
| Grina |
T |
A |
15: 76,132,497 (GRCm39) |
S115T |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,554,725 (GRCm39) |
S856T |
probably benign |
Het |
| Hars1 |
C |
A |
18: 36,899,996 (GRCm39) |
R490L |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,292,241 (GRCm39) |
K318I |
|
Het |
| Immt |
C |
A |
6: 71,829,762 (GRCm39) |
S156* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,738,232 (GRCm39) |
I17V |
possibly damaging |
Het |
| Klhdc1 |
T |
C |
12: 69,298,808 (GRCm39) |
V131A |
probably damaging |
Het |
| Klk6 |
C |
A |
7: 43,478,061 (GRCm39) |
N144K |
|
Het |
| Klk6 |
T |
C |
7: 43,478,062 (GRCm39) |
C145R |
probably damaging |
Het |
| Lrfn2 |
A |
T |
17: 49,404,132 (GRCm39) |
T752S |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,080,572 (GRCm39) |
Q1269P |
unknown |
Het |
| Lrwd1 |
G |
T |
5: 136,164,787 (GRCm39) |
Q7K |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,302,204 (GRCm39) |
M766K |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,245,864 (GRCm39) |
T4S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,084,438 (GRCm39) |
Y5587C |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,286,679 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,131,823 (GRCm39) |
R344S |
probably damaging |
Het |
| Nudt16l2 |
C |
T |
9: 105,021,648 (GRCm39) |
D133N |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,267,486 (GRCm39) |
Y200F |
probably damaging |
Het |
| Or5v1b |
A |
G |
17: 37,841,333 (GRCm39) |
N155S |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,042,597 (GRCm39) |
W2286R |
probably damaging |
Het |
| Ppm1g |
A |
T |
5: 31,365,768 (GRCm39) |
N51K |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,799,981 (GRCm39) |
K722E |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,859,761 (GRCm39) |
S318G |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,207,307 (GRCm39) |
Y194H |
probably damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,957,854 (GRCm39) |
D195E |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,330 (GRCm39) |
D186G |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,482,513 (GRCm39) |
V1020A |
probably benign |
Het |
| Scgb2b20 |
T |
C |
7: 33,065,689 (GRCm39) |
T13A |
unknown |
Het |
| Scly |
C |
A |
1: 91,244,830 (GRCm39) |
H310Q |
possibly damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,783,473 (GRCm39) |
E661K |
probably damaging |
Het |
| Sema4f |
G |
A |
6: 82,894,873 (GRCm39) |
L441F |
probably benign |
Het |
| Sema4f |
A |
C |
6: 82,894,874 (GRCm39) |
Y440* |
probably null |
Het |
| Tmem262 |
C |
T |
19: 6,130,118 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,236,392 (GRCm39) |
T501A |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,741,150 (GRCm39) |
V2692F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,772,774 (GRCm39) |
V2453E |
unknown |
Het |
| Ttn |
G |
T |
2: 76,541,956 (GRCm39) |
R33677S |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,555,051 (GRCm39) |
C660S |
probably benign |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,990 (GRCm39) |
D78E |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,521,179 (GRCm39) |
V263A |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 19,969,260 (GRCm39) |
D17V |
probably benign |
Het |
| Zfp658 |
T |
A |
7: 43,222,240 (GRCm39) |
W172R |
probably benign |
Het |
| Zfp804a |
A |
C |
2: 82,089,459 (GRCm39) |
H1096P |
possibly damaging |
Het |
| Zkscan14 |
C |
T |
5: 145,138,375 (GRCm39) |
W37* |
probably null |
Het |
| Zmynd15 |
A |
T |
11: 70,355,017 (GRCm39) |
D468V |
probably damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,654,466 (GRCm39) |
V682E |
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 |
|
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 |
|
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'- GCAAGTTCAAGGCCACAGAG -3'
(R):5'- TTCAACTGCTCAATGGTGCCG -3'
Sequencing Primer
(F):5'- GCAGTTATCAGAGCAGACGCAC -3'
(R):5'- TCAATGGTGCCGTTGAGAG -3'
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| Posted On |
2021-07-15 |
Incidental Mutation