Incidental Mutation 'R5647:Uaca'
ID |
441225 |
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 |
043295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R5647 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60779380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1256
(R1256G)
|
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: R1256G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000062047 Gene: ENSMUSG00000034485 AA Change: R1256G
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: R1254G
PolyPhen 2
Score 0.234 (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: R1078G
|
Meta Mutation Damage Score |
0.0765 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
95% (55/58) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
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 |
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 |
|
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'- TGGGATCATGAAAGCCAGCC -3'
(R):5'- GGGCCTACCTTATTGTCCTTGG -3'
Sequencing Primer
(F):5'- TCATGAAAGCCAGCCTGAGAG -3'
(R):5'- CCTTGGCTTCGATCTGCTTGG -3'
|
Posted On |
2016-11-08 |