Incidental Mutation 'IGL01310:Uaca'
| ID |
73659 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uaca
|
| Ensembl Gene |
ENSMUSG00000034485 |
| Gene Name |
uveal autoantigen with coiled-coil domains and ankyrin repeats |
| Synonyms |
nucling, 2700059D02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
IGL01310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60779507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1296
(M1296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151172
(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: M1298T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: M1298T
| 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: M1296T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: M1120T
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930431F12Rik |
A |
T |
5: 45,125,156 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
A |
T |
1: 71,323,315 (GRCm39) |
I1589N |
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,950,801 (GRCm39) |
D888A |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,232,150 (GRCm39) |
|
probably benign |
Het |
| Amer1 |
A |
T |
X: 94,470,716 (GRCm39) |
N467K |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,968 (GRCm39) |
D272G |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,575,794 (GRCm39) |
N751K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,080 (GRCm39) |
N250K |
probably damaging |
Het |
| Cndp2 |
G |
T |
18: 84,689,002 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Cnnm3 |
A |
G |
1: 36,551,956 (GRCm39) |
D322G |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,054 (GRCm39) |
S1606T |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,879,596 (GRCm39) |
S531P |
probably damaging |
Het |
| Espnl |
A |
T |
1: 91,268,333 (GRCm39) |
K320* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,709,384 (GRCm39) |
T13A |
possibly damaging |
Het |
| Gpam |
C |
T |
19: 55,066,764 (GRCm39) |
A584T |
possibly damaging |
Het |
| Gpr19 |
A |
G |
6: 134,846,705 (GRCm39) |
I289T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,800 (GRCm39) |
I572V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,027,308 (GRCm39) |
N502K |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,062,247 (GRCm39) |
M6V |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,085,724 (GRCm39) |
V263A |
probably damaging |
Het |
| Il33 |
G |
A |
19: 29,930,156 (GRCm39) |
A65T |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,598,227 (GRCm39) |
M1K |
probably null |
Het |
| Izumo3 |
T |
C |
4: 92,035,217 (GRCm39) |
|
probably benign |
Het |
| Kdr |
G |
A |
5: 76,110,261 (GRCm39) |
P909S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,997,182 (GRCm39) |
E262K |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,208,996 (GRCm39) |
Q278L |
probably benign |
Het |
| Lgi2 |
G |
T |
5: 52,711,807 (GRCm39) |
P195Q |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,676,301 (GRCm39) |
F120S |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,554,661 (GRCm39) |
R910Q |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,366,902 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
T |
1: 169,326,431 (GRCm39) |
V440E |
probably benign |
Het |
| Or10ag60 |
T |
A |
2: 87,437,852 (GRCm39) |
I40N |
possibly damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,652 (GRCm39) |
V208M |
probably benign |
Het |
| Or51ah3 |
C |
T |
7: 103,210,008 (GRCm39) |
S108F |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,865 (GRCm39) |
I154T |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,405,974 (GRCm39) |
D75G |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,130 (GRCm39) |
V134A |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,805,787 (GRCm39) |
I521V |
possibly damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,515,822 (GRCm39) |
E968V |
probably benign |
Het |
| Slc25a30 |
T |
C |
14: 76,007,037 (GRCm39) |
Y153C |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,292,171 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
C |
A |
6: 50,551,175 (GRCm39) |
V425L |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,700,544 (GRCm39) |
K275* |
probably null |
Het |
| Tnc |
T |
C |
4: 63,931,314 (GRCm39) |
T799A |
probably benign |
Het |
| Trdn |
A |
T |
10: 33,181,094 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,879 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
C |
17: 31,434,116 (GRCm39) |
I154L |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,317,200 (GRCm39) |
|
probably null |
Het |
| Xpc |
T |
C |
6: 91,467,089 (GRCm39) |
K915E |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,724,153 (GRCm39) |
I2052T |
possibly damaging |
Het |
|
| Other mutations in Uaca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation