Incidental Mutation 'R4674:Uaca'
ID |
348716 |
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 |
041929-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R4674 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60761711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 235
(Y235F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050183
AA Change: Y241F
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000062047 Gene: ENSMUSG00000034485 AA Change: Y241F
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: Y241F
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217656
AA Change: Y235F
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,860,615 (GRCm39) |
I112T |
probably benign |
Het |
Acvr1b |
T |
C |
15: 101,100,939 (GRCm39) |
I367T |
possibly damaging |
Het |
Akr1b8 |
G |
A |
6: 34,333,359 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
C |
3: 88,979,783 (GRCm39) |
V2769A |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,795 (GRCm39) |
D928V |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,085,223 (GRCm39) |
V66E |
possibly damaging |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Cbx2 |
T |
A |
11: 118,919,935 (GRCm39) |
I500N |
probably damaging |
Het |
Ccdc82 |
A |
T |
9: 13,252,260 (GRCm39) |
H184L |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,700,887 (GRCm39) |
H216L |
possibly damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,410 (GRCm39) |
T36A |
probably benign |
Het |
Cebpd |
A |
G |
16: 15,705,385 (GRCm39) |
D66G |
probably damaging |
Het |
Clec1b |
C |
A |
6: 129,377,097 (GRCm39) |
L47I |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,043,451 (GRCm39) |
D43G |
probably damaging |
Het |
Crbn |
T |
A |
6: 106,767,932 (GRCm39) |
Q173L |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,489 (GRCm39) |
V2100A |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,324,345 (GRCm39) |
L374P |
probably damaging |
Het |
Dhx16 |
T |
A |
17: 36,196,831 (GRCm39) |
V607E |
probably damaging |
Het |
Dido1 |
A |
G |
2: 180,329,352 (GRCm39) |
S357P |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,405 (GRCm39) |
I399F |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,337 (GRCm39) |
E123G |
possibly damaging |
Het |
Dstyk |
A |
G |
1: 132,391,128 (GRCm39) |
D843G |
probably benign |
Het |
Efcab12 |
C |
A |
6: 115,800,610 (GRCm39) |
V138F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,511,689 (GRCm39) |
F493L |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,822,256 (GRCm39) |
F220S |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,597,530 (GRCm39) |
F644L |
probably damaging |
Het |
F13b |
A |
G |
1: 139,429,542 (GRCm39) |
Y20C |
unknown |
Het |
Fam184b |
T |
A |
5: 45,740,230 (GRCm39) |
K319* |
probably null |
Het |
Flrt2 |
T |
A |
12: 95,747,462 (GRCm39) |
L600* |
probably null |
Het |
Gbgt1 |
T |
C |
2: 28,388,453 (GRCm39) |
F46S |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,763,759 (GRCm39) |
E1464G |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,423,959 (GRCm39) |
V501A |
possibly damaging |
Het |
Heca |
T |
C |
10: 17,791,057 (GRCm39) |
H333R |
probably benign |
Het |
Hirip3 |
G |
A |
7: 126,463,834 (GRCm39) |
|
probably null |
Het |
Igsf8 |
G |
A |
1: 172,146,479 (GRCm39) |
W51* |
probably null |
Het |
Kif21a |
C |
A |
15: 90,824,748 (GRCm39) |
R1342L |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,710,510 (GRCm39) |
N75D |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,366,190 (GRCm39) |
Y1292F |
probably benign |
Het |
Macroh2a1 |
A |
C |
13: 56,230,997 (GRCm39) |
C297G |
possibly damaging |
Het |
Mapk14 |
A |
G |
17: 28,963,996 (GRCm39) |
|
probably null |
Het |
Mgat5 |
T |
A |
1: 127,318,495 (GRCm39) |
V330D |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
A |
T |
13: 100,580,682 (GRCm39) |
F188L |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,901,731 (GRCm39) |
S1035P |
probably benign |
Het |
Ndn |
T |
A |
7: 61,998,570 (GRCm39) |
W139R |
probably damaging |
Het |
Nes |
T |
C |
3: 87,879,102 (GRCm39) |
V198A |
possibly damaging |
Het |
Or4c107 |
G |
T |
2: 88,789,216 (GRCm39) |
M135I |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,250 (GRCm39) |
I43V |
possibly damaging |
Het |
Or51ab3 |
T |
G |
7: 103,201,183 (GRCm39) |
L64V |
probably damaging |
Het |
Or52p1 |
T |
A |
7: 104,267,631 (GRCm39) |
C248* |
probably null |
Het |
Or5b111 |
T |
A |
19: 13,291,178 (GRCm39) |
H157L |
probably benign |
Het |
Or5p72 |
T |
C |
7: 108,022,309 (GRCm39) |
V177A |
possibly damaging |
Het |
Pcf11 |
G |
A |
7: 92,308,985 (GRCm39) |
|
probably benign |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Pipox |
T |
G |
11: 77,784,596 (GRCm39) |
Q4P |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,439 (GRCm39) |
T327I |
probably null |
Het |
Plppr1 |
C |
T |
4: 49,323,384 (GRCm39) |
R225W |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,571,412 (GRCm39) |
V145D |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,942,329 (GRCm39) |
Y83H |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,996,954 (GRCm39) |
L970Q |
probably null |
Het |
Rimklb |
C |
A |
6: 122,433,242 (GRCm39) |
E303* |
probably null |
Het |
Rpl13a |
A |
T |
7: 44,776,242 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
A |
18: 89,029,135 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
G |
A |
8: 111,571,137 (GRCm39) |
R10W |
probably damaging |
Het |
Skint4 |
G |
A |
4: 111,975,430 (GRCm39) |
C130Y |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,070 (GRCm39) |
S593P |
possibly damaging |
Het |
Ssb |
A |
G |
2: 69,699,194 (GRCm39) |
Q209R |
probably benign |
Het |
Stap1 |
A |
T |
5: 86,229,044 (GRCm39) |
I71L |
probably benign |
Het |
Syna |
C |
A |
5: 134,587,209 (GRCm39) |
R580L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,226,591 (GRCm39) |
M1111K |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,758,306 (GRCm39) |
L689P |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,623,686 (GRCm39) |
E1406G |
possibly damaging |
Het |
Tcstv7b |
T |
C |
13: 120,702,362 (GRCm39) |
W53R |
probably damaging |
Het |
Tdrd5 |
A |
C |
1: 156,105,005 (GRCm39) |
C463W |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,674,627 (GRCm39) |
F1150L |
probably damaging |
Het |
Tia1 |
T |
A |
6: 86,397,382 (GRCm39) |
F118L |
probably damaging |
Het |
Trav3-1 |
A |
T |
14: 52,818,460 (GRCm39) |
T45S |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,415,827 (GRCm39) |
N44S |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,525,255 (GRCm39) |
H304Q |
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,801,069 (GRCm39) |
I161V |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,826,399 (GRCm39) |
H789R |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,895,814 (GRCm39) |
T182A |
possibly damaging |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,824,980 (GRCm39) |
D167E |
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 |
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'- AAGGGGAGGCTTTCCTAACAGG -3'
(R):5'- GCTCAGCTACCTTGACACAG -3'
Sequencing Primer
(F):5'- AGGCTTTCCTAACAGGGTATTTC -3'
(R):5'- GCTACCTTGACACAGGAGTTCAG -3'
|
Posted On |
2015-10-08 |