Incidental Mutation 'R6274:Uaca'
ID |
507529 |
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 |
044444-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R6274 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 60757573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000050183
|
SMART Domains |
Protein: ENSMUSP00000062047 Gene: ENSMUSG00000034485
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 null
Transcript: ENSMUST00000214354
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217656
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ano1 |
A |
T |
7: 144,172,600 (GRCm39) |
S528T |
probably benign |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Bcl2l10 |
T |
C |
9: 75,258,354 (GRCm39) |
I172T |
possibly damaging |
Het |
Bpifb3 |
A |
T |
2: 153,771,243 (GRCm39) |
N385I |
possibly damaging |
Het |
Bsnd |
A |
G |
4: 106,343,832 (GRCm39) |
V158A |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,016,783 (GRCm39) |
N481S |
probably benign |
Het |
Cdk5rap1 |
A |
G |
2: 154,210,161 (GRCm39) |
V138A |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,366,069 (GRCm39) |
E1099G |
probably damaging |
Het |
Cers1 |
T |
A |
8: 70,783,727 (GRCm39) |
L225Q |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,081,069 (GRCm39) |
Q7R |
probably benign |
Het |
Clk4 |
A |
G |
11: 51,162,748 (GRCm39) |
S98G |
possibly damaging |
Het |
Clock |
A |
G |
5: 76,385,000 (GRCm39) |
S406P |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,484,833 (GRCm39) |
I3178V |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,516,540 (GRCm39) |
S1397P |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,871,188 (GRCm39) |
L1421P |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Greb1 |
G |
T |
12: 16,785,152 (GRCm39) |
T91K |
probably damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
Gucy1b2 |
A |
T |
14: 62,653,388 (GRCm39) |
C336S |
probably damaging |
Het |
Hdac1 |
A |
G |
4: 129,412,902 (GRCm39) |
C261R |
probably damaging |
Het |
Htt |
T |
C |
5: 35,009,431 (GRCm39) |
S1471P |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,742,958 (GRCm39) |
V2134A |
probably damaging |
Het |
Ikzf1 |
C |
T |
11: 11,718,961 (GRCm39) |
Q310* |
probably null |
Het |
Il3ra |
G |
A |
14: 14,350,180 (GRCm38) |
V112I |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,077,156 (GRCm39) |
I393V |
possibly damaging |
Het |
Krt74 |
T |
C |
15: 101,671,872 (GRCm39) |
|
noncoding transcript |
Het |
Krtap29-1 |
T |
C |
11: 99,869,809 (GRCm39) |
N24S |
probably null |
Het |
Mmut |
T |
C |
17: 41,267,136 (GRCm39) |
V570A |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,216,943 (GRCm39) |
D1138G |
probably damaging |
Het |
Nktr |
T |
C |
9: 121,560,631 (GRCm39) |
I125T |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,320,554 (GRCm39) |
L861Q |
probably damaging |
Het |
Notch3 |
C |
A |
17: 32,366,264 (GRCm39) |
R990L |
probably benign |
Het |
Nrap |
T |
C |
19: 56,350,153 (GRCm39) |
D655G |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,774,427 (GRCm39) |
V79E |
probably benign |
Het |
Or5b99 |
G |
A |
19: 12,977,234 (GRCm39) |
V295I |
probably damaging |
Het |
Osbpl11 |
T |
A |
16: 33,047,426 (GRCm39) |
I463N |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,683,592 (GRCm39) |
R749W |
probably damaging |
Het |
Plaat5 |
C |
T |
19: 7,614,831 (GRCm39) |
T231I |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,941,209 (GRCm39) |
|
probably null |
Het |
Polr1a |
T |
A |
6: 71,931,874 (GRCm39) |
|
probably null |
Het |
Ppm1g |
T |
C |
5: 31,363,750 (GRCm39) |
I153V |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,096,751 (GRCm39) |
S191P |
probably benign |
Het |
Prodh |
T |
C |
16: 17,898,922 (GRCm39) |
K178E |
possibly damaging |
Het |
Rilpl2 |
A |
G |
5: 124,607,911 (GRCm39) |
V103A |
possibly damaging |
Het |
Sap18b |
C |
T |
8: 96,552,169 (GRCm39) |
H60Y |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,583,951 (GRCm39) |
|
probably null |
Het |
Serpinb1a |
G |
T |
13: 33,026,849 (GRCm39) |
H364Q |
probably damaging |
Het |
Sez6l |
G |
A |
5: 112,623,231 (GRCm39) |
Q107* |
probably null |
Het |
Sipa1l2 |
C |
T |
8: 126,196,611 (GRCm39) |
V708I |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
Usp9y |
C |
T |
Y: 1,316,735 (GRCm39) |
R1938H |
probably damaging |
Homo |
Wnk4 |
C |
T |
11: 101,156,257 (GRCm39) |
R42W |
probably damaging |
Het |
Zfp326 |
T |
A |
5: 106,053,846 (GRCm39) |
L242Q |
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 |
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'- GTATTTAGGCTGCCCCTGTCAG -3'
(R):5'- ACCATGTCCTAGCAACAGCG -3'
Sequencing Primer
(F):5'- AGCAGGTGTTCACTGTCAC -3'
(R):5'- TGTCCTAGCAACAGCGTCACAG -3'
|
Posted On |
2018-03-15 |