Incidental Mutation 'R1894:Uaca'
| ID |
211814 |
| 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 |
039914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R1894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60777718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 702
(S702P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050183
AA Change: S702P
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: S702P
| 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 |
possibly damaging
Transcript: ENSMUST00000214354
AA Change: S700P
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217656
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
C |
4: 129,907,419 (GRCm39) |
F977S |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,406,393 (GRCm39) |
Y306H |
probably benign |
Het |
| Cblc |
T |
C |
7: 19,526,502 (GRCm39) |
T196A |
probably damaging |
Het |
| Cfap52 |
T |
A |
11: 67,844,445 (GRCm39) |
|
probably null |
Het |
| Cops3 |
T |
C |
11: 59,710,844 (GRCm39) |
N375S |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,170,931 (GRCm39) |
T759A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,557 (GRCm39) |
K153E |
probably benign |
Het |
| Elovl1 |
C |
T |
4: 118,287,945 (GRCm39) |
S27F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,863,185 (GRCm39) |
E804G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,798,840 (GRCm39) |
C86F |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,236,541 (GRCm39) |
R380W |
probably damaging |
Het |
| Gatad2a |
C |
T |
8: 70,369,301 (GRCm39) |
R221Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,174 (GRCm39) |
P677L |
probably damaging |
Het |
| Gm6020 |
C |
T |
19: 61,172,391 (GRCm39) |
H22Y |
possibly damaging |
Het |
| Gm9817 |
T |
C |
13: 45,232,605 (GRCm39) |
V136A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,273,622 (GRCm39) |
L971H |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,254,989 (GRCm39) |
E192K |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,568 (GRCm39) |
V660I |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,082 (GRCm39) |
P1471S |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,743 (GRCm39) |
G3786S |
probably damaging |
Het |
| Isg20 |
T |
C |
7: 78,569,647 (GRCm39) |
V206A |
probably benign |
Het |
| Jund |
T |
A |
8: 71,152,470 (GRCm39) |
I255N |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,353,079 (GRCm39) |
I263F |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,019,420 (GRCm39) |
L561Q |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,189 (GRCm39) |
D546G |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,054 (GRCm39) |
Q24L |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,735 (GRCm39) |
C225S |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,728,312 (GRCm39) |
H55R |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,242 (GRCm39) |
R86* |
probably null |
Het |
| Mfsd2b |
T |
C |
12: 4,919,155 (GRCm39) |
E63G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,777,899 (GRCm39) |
G1049S |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,326,064 (GRCm39) |
V1169E |
probably benign |
Het |
| Nr2f2 |
T |
A |
7: 70,004,419 (GRCm39) |
M411L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,886,392 (GRCm39) |
T585S |
possibly damaging |
Het |
| Or5m13 |
C |
T |
2: 85,748,599 (GRCm39) |
T110I |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,943 (GRCm39) |
C125* |
probably null |
Het |
| Or7e177 |
T |
C |
9: 20,211,633 (GRCm39) |
S47P |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,807,165 (GRCm39) |
I166N |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,366,263 (GRCm39) |
F181L |
probably benign |
Het |
| Prx |
C |
T |
7: 27,218,535 (GRCm39) |
T1012I |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,754,199 (GRCm39) |
V5E |
probably damaging |
Het |
| Rassf9 |
C |
A |
10: 102,380,755 (GRCm39) |
R44S |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,592,301 (GRCm39) |
I157F |
probably benign |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,380,545 (GRCm39) |
M372K |
possibly damaging |
Het |
| Sgcd |
A |
T |
11: 47,085,937 (GRCm39) |
I71N |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,942,483 (GRCm39) |
C721Y |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,910,038 (GRCm39) |
K344N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,782,713 (GRCm39) |
Q1076L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,838,692 (GRCm39) |
N581I |
possibly damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,875,936 (GRCm39) |
P533H |
probably benign |
Het |
| Spice1 |
T |
G |
16: 44,185,989 (GRCm39) |
S111A |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,365,274 (GRCm39) |
F61V |
probably damaging |
Het |
| Timp3 |
C |
T |
10: 86,181,716 (GRCm39) |
R196* |
probably null |
Het |
| Tll2 |
A |
G |
19: 41,077,110 (GRCm39) |
|
probably null |
Het |
| Tppp |
A |
G |
13: 74,169,326 (GRCm39) |
D22G |
possibly damaging |
Het |
| Trim24 |
G |
T |
6: 37,934,013 (GRCm39) |
R652L |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,287,130 (GRCm39) |
E146G |
probably damaging |
Het |
| Vmn1r233 |
T |
C |
17: 21,213,994 (GRCm39) |
S319G |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,530,692 (GRCm39) |
Q395L |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,989,319 (GRCm39) |
|
probably null |
Het |
| Zfp420 |
A |
T |
7: 29,573,933 (GRCm39) |
H51L |
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 |
|
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'- GAAGAGCTCATTATCCAATGACATC -3'
(R):5'- GTGTTGCCTCCGAAAGCTTC -3'
Sequencing Primer
(F):5'- GCTCATTATCCAATGACATCAATGAG -3'
(R):5'- AAAGCTTCTTATTCAAATCCTCCACG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation