Incidental Mutation 'R2042:Uaca'
| ID |
225094 |
| 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 |
040049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R2042 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60777173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 518
(V518A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050183
AA Change: V520A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: V520A
| 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 damaging
Transcript: ENSMUST00000214354
AA Change: V518A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: V512A
|
| Meta Mutation Damage Score |
0.1308 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,210,377 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,143,941 (GRCm39) |
R1653Q |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,439 (GRCm39) |
Y176F |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,853,904 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,752,075 (GRCm39) |
L564S |
probably benign |
Het |
| Birc6 |
C |
G |
17: 74,916,654 (GRCm39) |
A1774G |
probably damaging |
Het |
| Cacng1 |
C |
T |
11: 107,595,134 (GRCm39) |
A148T |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,740 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,309,811 (GRCm39) |
F1596S |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,868,814 (GRCm39) |
F122I |
possibly damaging |
Het |
| Ckm |
A |
T |
7: 19,148,082 (GRCm39) |
H7L |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,844 (GRCm39) |
V1575A |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,182,763 (GRCm39) |
E712G |
probably damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,365,533 (GRCm39) |
R434L |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,057,769 (GRCm39) |
S570T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,708,089 (GRCm39) |
I1444V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,854,632 (GRCm39) |
V98A |
probably benign |
Het |
| Dtx1 |
T |
G |
5: 120,832,541 (GRCm39) |
N299T |
probably benign |
Het |
| Efr3b |
T |
A |
12: 4,034,627 (GRCm39) |
D65V |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,755,607 (GRCm39) |
C323R |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,161,964 (GRCm39) |
T31I |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,994,856 (GRCm39) |
I123F |
probably damaging |
Het |
| Fbxw26 |
T |
G |
9: 109,561,772 (GRCm39) |
T141P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,033,328 (GRCm39) |
Y629* |
probably null |
Het |
| Glra3 |
G |
A |
8: 56,515,494 (GRCm39) |
D190N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,295,677 (GRCm39) |
L4229P |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,057,580 (GRCm39) |
I284T |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,610,284 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,292,851 (GRCm39) |
D234E |
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,732,026 (GRCm39) |
N209K |
probably benign |
Het |
| Mak |
A |
C |
13: 41,202,912 (GRCm39) |
S179A |
possibly damaging |
Het |
| Map3k4 |
C |
A |
17: 12,496,870 (GRCm39) |
R87L |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,683,555 (GRCm39) |
L53P |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,309,051 (GRCm39) |
|
probably null |
Het |
| Mks1 |
C |
T |
11: 87,747,494 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,983,964 (GRCm39) |
P1670S |
probably damaging |
Het |
| Ncf1 |
C |
G |
5: 134,255,494 (GRCm39) |
Q132H |
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,532,203 (GRCm39) |
S370P |
possibly damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,327,020 (GRCm39) |
H92R |
probably benign |
Het |
| Or12j2 |
T |
C |
7: 139,915,850 (GRCm39) |
L25P |
probably damaging |
Het |
| Or4p19 |
G |
A |
2: 88,242,546 (GRCm39) |
A152V |
possibly damaging |
Het |
| P4ha3 |
T |
C |
7: 99,949,897 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
C |
A |
12: 81,965,067 (GRCm39) |
H411Q |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,500,051 (GRCm39) |
V473A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,590,193 (GRCm39) |
S530P |
possibly damaging |
Het |
| Scin |
A |
G |
12: 40,127,509 (GRCm39) |
I427T |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,381,561 (GRCm39) |
T424A |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,818,012 (GRCm39) |
I196T |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,228,908 (GRCm39) |
V90L |
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,737,386 (GRCm38) |
V99M |
probably damaging |
Het |
| Spata31f3 |
C |
T |
4: 42,874,030 (GRCm39) |
C46Y |
possibly damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,763 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,039,213 (GRCm39) |
M1185I |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,924 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,808,118 (GRCm39) |
Q1200* |
probably null |
Het |
| Ufm1 |
A |
G |
3: 53,766,702 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,778 (GRCm39) |
T1236I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,234 (GRCm39) |
Y845H |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,641 (GRCm39) |
C154S |
possibly damaging |
Het |
| Zfp787 |
T |
C |
7: 6,135,763 (GRCm39) |
K163E |
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 |
|
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'- ACAGGACCGACTGAAGTTCC -3'
(R):5'- GACTTCACATGTGCCGCATTC -3'
Sequencing Primer
(F):5'- GTTCCAAAACGAACTGGCTC -3'
(R):5'- TTGAACTCTCCCACCAGCATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation