Incidental Mutation 'R7011:Uaca'
ID |
545025 |
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 |
045112-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R7011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60777650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 679
(E679G)
|
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: E679G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062047 Gene: ENSMUSG00000034485 AA Change: E679G
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: E677G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217656
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (66/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,033,845 (GRCm39) |
P886S |
probably benign |
Het |
Anapc1 |
C |
T |
2: 128,490,601 (GRCm39) |
|
probably null |
Het |
Ankrd34c |
C |
A |
9: 89,611,001 (GRCm39) |
G447* |
probably null |
Het |
Apbb1ip |
A |
T |
2: 22,725,943 (GRCm39) |
E238D |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,613,935 (GRCm39) |
L110P |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,853,689 (GRCm39) |
T1901I |
possibly damaging |
Het |
Brpf1 |
C |
A |
6: 113,295,427 (GRCm39) |
Q679K |
probably benign |
Het |
Btnl2 |
A |
G |
17: 34,582,487 (GRCm39) |
E351G |
probably damaging |
Het |
Cd209f |
T |
A |
8: 4,154,859 (GRCm39) |
T80S |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,819,451 (GRCm39) |
E349G |
probably damaging |
Het |
Cfap53 |
A |
T |
18: 74,462,564 (GRCm39) |
D436V |
probably benign |
Het |
Crhr2 |
A |
T |
6: 55,076,195 (GRCm39) |
|
probably null |
Het |
Cux1 |
T |
C |
5: 136,388,887 (GRCm39) |
K226E |
probably damaging |
Het |
Ddr2 |
A |
T |
1: 169,809,672 (GRCm39) |
D768E |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,632,346 (GRCm39) |
L435P |
probably damaging |
Het |
Dnah11 |
AGGCC |
AGGCCGGCC |
12: 117,885,753 (GRCm39) |
|
probably null |
Het |
Eif4ebp1 |
G |
A |
8: 27,763,372 (GRCm39) |
R55Q |
probably damaging |
Het |
Fbh1 |
T |
A |
2: 11,767,774 (GRCm39) |
D358V |
probably damaging |
Het |
Fra10ac1 |
T |
A |
19: 38,177,242 (GRCm39) |
E304D |
probably benign |
Het |
Gabrb2 |
T |
C |
11: 42,517,488 (GRCm39) |
S399P |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gprin2 |
G |
T |
14: 33,917,393 (GRCm39) |
H126N |
probably null |
Het |
Gucy1a1 |
A |
G |
3: 82,016,422 (GRCm39) |
S189P |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,317 (GRCm39) |
M182T |
probably benign |
Het |
Lipc |
A |
G |
9: 70,726,236 (GRCm39) |
F73L |
probably benign |
Het |
Liph |
A |
G |
16: 21,802,847 (GRCm39) |
I74T |
probably damaging |
Het |
Lrif1 |
T |
G |
3: 106,639,601 (GRCm39) |
Y229D |
probably damaging |
Het |
Magel2 |
C |
T |
7: 62,028,281 (GRCm39) |
T395I |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 104,013,070 (GRCm39) |
N139S |
probably damaging |
Het |
Man2c1 |
T |
A |
9: 57,045,117 (GRCm39) |
V336E |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,019,803 (GRCm39) |
Y135N |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,166,595 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
T |
8: 85,638,574 (GRCm39) |
Y653* |
probably null |
Het |
Muc16 |
T |
A |
9: 18,548,839 (GRCm39) |
H5818L |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,747 (GRCm39) |
I5849F |
probably benign |
Het |
Ndufa10 |
A |
G |
1: 92,398,581 (GRCm39) |
S68P |
probably damaging |
Het |
Nedd1 |
C |
A |
10: 92,526,635 (GRCm39) |
L503F |
probably benign |
Het |
Nr1i3 |
A |
G |
1: 171,041,927 (GRCm39) |
M4V |
probably benign |
Het |
Or12e9 |
G |
A |
2: 87,202,604 (GRCm39) |
A243T |
possibly damaging |
Het |
Or2av9 |
T |
A |
11: 58,380,970 (GRCm39) |
I204F |
possibly damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,031 (GRCm39) |
F257I |
probably benign |
Het |
Or9i2 |
T |
C |
19: 13,816,403 (GRCm39) |
I45V |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,709,231 (GRCm39) |
S695T |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,063,588 (GRCm39) |
I84T |
probably damaging |
Het |
Plek |
T |
A |
11: 16,944,760 (GRCm39) |
D90V |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,649,825 (GRCm39) |
C47R |
probably damaging |
Het |
Psg27 |
G |
C |
7: 18,290,798 (GRCm39) |
N468K |
probably benign |
Het |
Ptchd4 |
G |
A |
17: 42,814,759 (GRCm39) |
E887K |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,430,492 (GRCm39) |
L678F |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,968,904 (GRCm39) |
Y429C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,056,272 (GRCm39) |
C73S |
probably damaging |
Het |
Rtkn2 |
G |
A |
10: 67,815,495 (GRCm39) |
|
probably benign |
Het |
Slc25a42 |
A |
G |
8: 70,639,352 (GRCm39) |
S242P |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,648,753 (GRCm39) |
D167V |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,724,610 (GRCm39) |
L511P |
probably benign |
Het |
Stbd1 |
A |
T |
5: 92,752,977 (GRCm39) |
K156* |
probably null |
Het |
Tenm4 |
G |
T |
7: 96,545,342 (GRCm39) |
G2453* |
probably null |
Het |
Tent4a |
C |
T |
13: 69,648,199 (GRCm39) |
G489S |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,309,523 (GRCm39) |
K1760E |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,862,923 (GRCm39) |
L1427Q |
probably damaging |
Het |
Ucn3 |
T |
G |
13: 3,991,421 (GRCm39) |
H77P |
possibly damaging |
Het |
Wnk2 |
T |
A |
13: 49,224,567 (GRCm39) |
D998V |
probably damaging |
Het |
Xrcc3 |
A |
G |
12: 111,770,969 (GRCm39) |
V320A |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,345,925 (GRCm39) |
T1435A |
possibly damaging |
Het |
Zfp36l2 |
G |
T |
17: 84,493,861 (GRCm39) |
H259N |
possibly damaging |
Het |
Zfp619 |
A |
T |
7: 39,187,186 (GRCm39) |
H1072L |
probably damaging |
Het |
Zfy2 |
T |
A |
Y: 2,107,127 (GRCm39) |
E502D |
possibly damaging |
Het |
Zfyve16 |
G |
A |
13: 92,658,495 (GRCm39) |
P472L |
probably benign |
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 |
|
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 |
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'- ACATGTGAAGTCGAGCTGG -3'
(R):5'- CACCTGCTGGTTGAGAAGTTTG -3'
Sequencing Primer
(F):5'- ACGGGTCGTGGAACTGG -3'
(R):5'- CCTGCTGGTTGAGAAGTTTGTTGTC -3'
|
Posted On |
2019-05-13 |