Incidental Mutation 'IGL03037:Uaca'
| ID |
408718 |
| 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: 0.173)
|
| Stock # |
IGL03037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60748147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 37
(D37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062047
(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: D37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: D37G
| 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 |
noncoding transcript
Transcript: ENSMUST00000063858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214354
AA Change: D37G
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214999
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: D31G
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,807,294 (GRCm39) |
L539P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,610,176 (GRCm39) |
Q726L |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,355,587 (GRCm39) |
E74G |
probably benign |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
A |
3: 37,023,356 (GRCm39) |
S2227R |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,357 (GRCm39) |
S2229P |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,200,220 (GRCm39) |
L243Q |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,202,595 (GRCm39) |
L1274F |
probably damaging |
Het |
| Car10 |
A |
G |
11: 92,991,044 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,948,583 (GRCm39) |
D186V |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,230 (GRCm39) |
Y285C |
probably damaging |
Het |
| Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,679 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
| Cripto |
C |
A |
9: 110,772,288 (GRCm39) |
W36L |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,672,930 (GRCm39) |
N532D |
possibly damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,063,545 (GRCm39) |
E249G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,269,643 (GRCm39) |
V393A |
probably benign |
Het |
| Fhip1b |
A |
T |
7: 105,028,293 (GRCm39) |
H885Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,696,116 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
A |
11: 53,059,050 (GRCm39) |
A503D |
possibly damaging |
Het |
| Gda |
T |
A |
19: 21,411,673 (GRCm39) |
I42L |
possibly damaging |
Het |
| Gprc5d |
C |
A |
6: 135,093,319 (GRCm39) |
C196F |
probably damaging |
Het |
| Hnrnpa0 |
A |
G |
13: 58,275,767 (GRCm39) |
F121L |
probably damaging |
Het |
| Hsd3b7 |
C |
T |
7: 127,400,322 (GRCm39) |
H24Y |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,368 (GRCm39) |
S1188P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
| Mmp16 |
C |
T |
4: 17,996,222 (GRCm39) |
P104S |
probably damaging |
Het |
| Mpst |
C |
A |
15: 78,294,798 (GRCm39) |
R177S |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,487,086 (GRCm39) |
T279S |
probably benign |
Het |
| Or1q1 |
C |
T |
2: 36,887,560 (GRCm39) |
T246I |
probably benign |
Het |
| Or1x2 |
A |
T |
11: 50,918,117 (GRCm39) |
Y96F |
probably damaging |
Het |
| Or4c11b |
A |
G |
2: 88,625,299 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,786,668 (GRCm39) |
I12N |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
| Pik3r4 |
A |
G |
9: 105,528,012 (GRCm39) |
D455G |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,308 (GRCm39) |
I756V |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,592,923 (GRCm39) |
L1730P |
probably benign |
Het |
| Pnpla3 |
T |
C |
15: 84,056,960 (GRCm39) |
I155T |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,680,940 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Rbfox1 |
T |
A |
16: 7,110,147 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
G |
17: 3,240,496 (GRCm39) |
K623E |
probably damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,581,686 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,544,231 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,727,758 (GRCm39) |
D775G |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,979,486 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
A |
13: 59,873,947 (GRCm39) |
E1196V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,193,246 (GRCm39) |
Y208N |
probably damaging |
Het |
| Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,751,913 (GRCm39) |
F959L |
possibly damaging |
Het |
| Tnfrsf19 |
T |
A |
14: 61,261,721 (GRCm39) |
K26I |
possibly damaging |
Het |
| Trappc10 |
A |
T |
10: 78,034,869 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,866,776 (GRCm39) |
T536A |
possibly damaging |
Het |
| Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,896,971 (GRCm39) |
|
probably benign |
Het |
| Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
| Ugp2 |
T |
A |
11: 21,282,540 (GRCm39) |
K151* |
probably null |
Het |
| Wasf1 |
A |
G |
10: 40,806,654 (GRCm39) |
K99R |
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,472 (GRCm39) |
T42M |
possibly damaging |
Het |
| Zfp54 |
T |
A |
17: 21,650,477 (GRCm39) |
D17E |
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 |
|
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 |
2016-08-02 |
Incidental Mutation