Incidental Mutation 'R6244:Uaca'
| ID |
505459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uaca
|
| Ensembl Gene |
ENSMUSG00000034485 |
| Gene Name |
uveal autoantigen with coiled-coil domains and ankyrin repeats |
| Synonyms |
2700059D02Rik, nucling |
| MMRRC Submission |
044435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R6244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60794542-60880370 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60870044 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 571
(R571Q)
|
| 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: R571Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: R571Q
| 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: R569Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217656
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
96% (82/85) |
| 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 |
|---|
| 4932438A13Rik |
T |
C |
3: 36,956,999 (GRCm38) |
V1782A |
probably benign |
Het |
| 6430550D23Rik |
T |
C |
2: 156,003,230 (GRCm38) |
H113R |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,197,533 (GRCm38) |
M499K |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,106,931 (GRCm38) |
T211I |
probably damaging |
Het |
| Adss |
C |
T |
1: 177,776,829 (GRCm38) |
E153K |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,511,487 (GRCm38) |
G431V |
possibly damaging |
Het |
| Araf |
G |
T |
X: 20,860,100 (GRCm38) |
R601L |
probably damaging |
Homo |
| Atp2b4 |
T |
A |
1: 133,726,561 (GRCm38) |
I769F |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,689,352 (GRCm38) |
|
probably null |
Het |
| Brap |
C |
A |
5: 121,665,309 (GRCm38) |
D173E |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,566,978 (GRCm38) |
R3035L |
probably benign |
Het |
| Ccdc8 |
C |
A |
7: 16,996,251 (GRCm38) |
P555Q |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,940,718 (GRCm38) |
S170P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,393,128 (GRCm38) |
H860R |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,046,385 (GRCm38) |
R174M |
probably damaging |
Het |
| Cfap57 |
T |
G |
4: 118,579,410 (GRCm38) |
I930L |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 120,051,694 (GRCm38) |
R214H |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 32,906,317 (GRCm38) |
H429L |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,615,276 (GRCm38) |
F592L |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,625,923 (GRCm38) |
E865G |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,621,566 (GRCm38) |
|
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,049,628 (GRCm38) |
T14A |
probably damaging |
Het |
| Echs1 |
C |
A |
7: 140,113,069 (GRCm38) |
Q51H |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,530,307 (GRCm38) |
D587V |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,140,397 (GRCm38) |
Y666N |
possibly damaging |
Het |
| Epha2 |
G |
A |
4: 141,316,912 (GRCm38) |
G342S |
probably benign |
Het |
| Fbxo33 |
C |
A |
12: 59,206,079 (GRCm38) |
K211N |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 101,259,776 (GRCm38) |
|
probably null |
Het |
| Fen1 |
A |
G |
19: 10,200,687 (GRCm38) |
V131A |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,892,092 (GRCm38) |
E587G |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,657,240 (GRCm38) |
T206A |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,619,306 (GRCm38) |
E228G |
possibly damaging |
Het |
| Galnt13 |
T |
C |
2: 54,933,548 (GRCm38) |
F379L |
probably damaging |
Het |
| Gcnt2 |
A |
C |
13: 40,861,241 (GRCm38) |
E296A |
probably damaging |
Het |
| Gm7145 |
T |
A |
1: 117,986,140 (GRCm38) |
C251S |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,070,985 (GRCm38) |
P810L |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,327,566 (GRCm38) |
L87M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,145,601 (GRCm38) |
S1122G |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 63,182,226 (GRCm38) |
D46V |
probably damaging |
Het |
| Kcnn3 |
T |
G |
3: 89,645,523 (GRCm38) |
Y511* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,793,005 (GRCm38) |
I66N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 44,054,550 (GRCm38) |
H39L |
probably benign |
Het |
| Kmo |
C |
T |
1: 175,659,695 (GRCm38) |
T404I |
possibly damaging |
Het |
| Krt222 |
C |
T |
11: 99,235,058 (GRCm38) |
|
probably null |
Het |
| Magi3 |
G |
C |
3: 104,015,697 (GRCm38) |
H1235D |
probably benign |
Het |
| Mapk8ip1 |
C |
A |
2: 92,389,244 (GRCm38) |
G81C |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,652,745 (GRCm38) |
Q583* |
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,256,754 (GRCm38) |
V1453A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,362,501 (GRCm38) |
M1488V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,152,137 (GRCm38) |
F1193L |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,702,855 (GRCm38) |
M181K |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,213,790 (GRCm38) |
V796D |
probably damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,770,537 (GRCm38) |
F301S |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 55,868,028 (GRCm38) |
V832I |
probably damaging |
Het |
| Olfr1046 |
T |
A |
2: 86,217,222 (GRCm38) |
T163S |
possibly damaging |
Het |
| Olfr1508 |
T |
A |
14: 52,463,895 (GRCm38) |
Y38F |
probably damaging |
Het |
| Olfr320 |
A |
T |
11: 58,684,004 (GRCm38) |
T44S |
possibly damaging |
Het |
| Olfr342 |
T |
A |
2: 36,528,341 (GRCm38) |
C310S |
probably benign |
Het |
| Olfr61 |
C |
A |
7: 140,638,433 (GRCm38) |
S244Y |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 141,237,673 (GRCm38) |
C132S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,230,558 (GRCm38) |
|
probably null |
Het |
| Polr2a |
G |
A |
11: 69,744,226 (GRCm38) |
T569M |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,376,632 (GRCm38) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Homo |
| Sc5d |
T |
C |
9: 42,255,421 (GRCm38) |
E274G |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,764,828 (GRCm38) |
|
probably null |
Het |
| Serpinb11 |
T |
A |
1: 107,372,242 (GRCm38) |
I106N |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,548,665 (GRCm38) |
R516K |
probably damaging |
Het |
| Sirt2 |
G |
T |
7: 28,787,797 (GRCm38) |
C291F |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,508,175 (GRCm38) |
V314A |
probably damaging |
Het |
| Stat6 |
C |
T |
10: 127,657,712 (GRCm38) |
|
probably null |
Het |
| Strn3 |
A |
G |
12: 51,610,107 (GRCm38) |
V712A |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,634,214 (GRCm38) |
G84C |
possibly damaging |
Het |
| Tnik |
C |
A |
3: 28,650,179 (GRCm38) |
L996I |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,487,610 (GRCm38) |
T129K |
probably damaging |
Het |
| Triml1 |
G |
T |
8: 43,138,756 (GRCm38) |
Y188* |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,773,892 (GRCm38) |
Y760H |
probably damaging |
Het |
| Ubash3a |
A |
T |
17: 31,239,272 (GRCm38) |
Q575L |
possibly damaging |
Het |
| Usp49 |
T |
A |
17: 47,672,902 (GRCm38) |
C61* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,584,651 (GRCm38) |
V336E |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,086,662 (GRCm38) |
V1135A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,783,161 (GRCm38) |
V24A |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,814,971 (GRCm38) |
Y426H |
probably benign |
Het |
|
| Other mutations in Uaca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Uaca
|
APN |
9 |
60,872,225 (GRCm38) |
missense |
probably benign |
|
|
IGL01751:Uaca
|
APN |
9 |
60,869,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02868:Uaca
|
APN |
9 |
60,863,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02977:Uaca
|
APN |
9 |
60,866,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03037:Uaca
|
APN |
9 |
60,840,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03060:Uaca
|
APN |
9 |
60,869,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03083:Uaca
|
APN |
9 |
60,863,663 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL03266:Uaca
|
APN |
9 |
60,863,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03346:Uaca
|
APN |
9 |
60,854,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Ixtapa
|
UTSW |
9 |
60,870,413 (GRCm38) |
missense |
probably damaging |
0.99 |
|
oaxaca
|
UTSW |
9 |
60,871,451 (GRCm38) |
missense |
probably benign |
|
|
R0408:Uaca
|
UTSW |
9 |
60,871,859 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0567:Uaca
|
UTSW |
9 |
60,871,381 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0598:Uaca
|
UTSW |
9 |
60,870,921 (GRCm38) |
nonsense |
probably null |
|
|
R0603:Uaca
|
UTSW |
9 |
60,871,097 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R0655:Uaca
|
UTSW |
9 |
60,872,029 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0707:Uaca
|
UTSW |
9 |
60,848,618 (GRCm38) |
splice site |
probably benign |
|
|
R0791:Uaca
|
UTSW |
9 |
60,872,059 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1466:Uaca
|
UTSW |
9 |
60,854,321 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1466:Uaca
|
UTSW |
9 |
60,854,321 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1520:Uaca
|
UTSW |
9 |
60,871,381 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1673:Uaca
|
UTSW |
9 |
60,872,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1894:Uaca
|
UTSW |
9 |
60,870,436 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1997:Uaca
|
UTSW |
9 |
60,870,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2042:Uaca
|
UTSW |
9 |
60,869,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2095:Uaca
|
UTSW |
9 |
60,840,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2148:Uaca
|
UTSW |
9 |
60,869,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2384:Uaca
|
UTSW |
9 |
60,869,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3110:Uaca
|
UTSW |
9 |
60,871,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:Uaca
|
UTSW |
9 |
60,871,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4001:Uaca
|
UTSW |
9 |
60,871,084 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4155:Uaca
|
UTSW |
9 |
60,871,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4156:Uaca
|
UTSW |
9 |
60,871,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4157:Uaca
|
UTSW |
9 |
60,871,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4410:Uaca
|
UTSW |
9 |
60,869,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4674:Uaca
|
UTSW |
9 |
60,854,429 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4871:Uaca
|
UTSW |
9 |
60,846,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5130:Uaca
|
UTSW |
9 |
60,880,228 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5328:Uaca
|
UTSW |
9 |
60,870,532 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5358:Uaca
|
UTSW |
9 |
60,871,148 (GRCm38) |
missense |
probably benign |
|
|
R5415:Uaca
|
UTSW |
9 |
60,870,139 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5437:Uaca
|
UTSW |
9 |
60,871,451 (GRCm38) |
missense |
probably benign |
|
|
R5647:Uaca
|
UTSW |
9 |
60,872,098 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5710:Uaca
|
UTSW |
9 |
60,871,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5920:Uaca
|
UTSW |
9 |
60,869,603 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5931:Uaca
|
UTSW |
9 |
60,872,012 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5933:Uaca
|
UTSW |
9 |
60,840,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5959:Uaca
|
UTSW |
9 |
60,870,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6193:Uaca
|
UTSW |
9 |
60,870,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6195:Uaca
|
UTSW |
9 |
60,870,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6242:Uaca
|
UTSW |
9 |
60,870,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6243:Uaca
|
UTSW |
9 |
60,870,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6274:Uaca
|
UTSW |
9 |
60,850,291 (GRCm38) |
splice site |
probably null |
|
|
R6670:Uaca
|
UTSW |
9 |
60,872,024 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6883:Uaca
|
UTSW |
9 |
60,869,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7011:Uaca
|
UTSW |
9 |
60,870,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7111:Uaca
|
UTSW |
9 |
60,871,838 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7146:Uaca
|
UTSW |
9 |
60,870,413 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7424:Uaca
|
UTSW |
9 |
60,870,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Uaca
|
UTSW |
9 |
60,846,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7510:Uaca
|
UTSW |
9 |
60,850,205 (GRCm38) |
splice site |
probably null |
|
|
R7688:Uaca
|
UTSW |
9 |
60,874,127 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7724:Uaca
|
UTSW |
9 |
60,869,905 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7743:Uaca
|
UTSW |
9 |
60,876,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8556:Uaca
|
UTSW |
9 |
60,870,641 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8699:Uaca
|
UTSW |
9 |
60,871,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8814:Uaca
|
UTSW |
9 |
60,866,398 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8828:Uaca
|
UTSW |
9 |
60,871,570 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9475:Uaca
|
UTSW |
9 |
60,872,216 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9477:Uaca
|
UTSW |
9 |
60,870,826 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9509:Uaca
|
UTSW |
9 |
60,872,216 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
X0067:Uaca
|
UTSW |
9 |
60,859,149 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Uaca
|
UTSW |
9 |
60,874,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCAAAGACGTGCAGAAG -3'
(R):5'- ATTTCTCTGTGGGGACAGAAAGG -3'
Sequencing Primer
(F):5'- CGTGCAGAAGAGGATGTATGAGTCC -3'
(R):5'- CAGAAAGGGCCAGCTTAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation