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 |
nucling, 2700059D02Rik |
| MMRRC Submission |
044435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60777326 bp (GRCm39)
|
| 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 |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,150 (GRCm39) |
H113R |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,531 (GRCm39) |
M499K |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,255,050 (GRCm39) |
T211I |
probably damaging |
Het |
| Adss2 |
C |
T |
1: 177,604,395 (GRCm39) |
E153K |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,280 (GRCm39) |
G431V |
possibly damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Atp2b4 |
T |
A |
1: 133,654,299 (GRCm39) |
I769F |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,531,272 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,011,148 (GRCm39) |
V1782A |
probably benign |
Het |
| Brap |
C |
A |
5: 121,803,372 (GRCm39) |
D173E |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,490,443 (GRCm39) |
R3035L |
probably benign |
Het |
| Ccdc8 |
C |
A |
7: 16,730,176 (GRCm39) |
P555Q |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,675 (GRCm39) |
S170P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,444 (GRCm39) |
H860R |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,194,244 (GRCm39) |
R174M |
probably damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,607 (GRCm39) |
I930L |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,760 (GRCm39) |
R214H |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,291 (GRCm39) |
H429L |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,620 (GRCm39) |
F592L |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,603,287 (GRCm39) |
E865G |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,457,345 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,254,626 (GRCm39) |
T14A |
probably damaging |
Het |
| Echs1 |
C |
A |
7: 139,692,982 (GRCm39) |
Q51H |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,683,783 (GRCm39) |
D587V |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,145 (GRCm39) |
Y666N |
possibly damaging |
Het |
| Epha2 |
G |
A |
4: 141,044,223 (GRCm39) |
G342S |
probably benign |
Het |
| Fbxo33 |
C |
A |
12: 59,252,865 (GRCm39) |
K211N |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,908,983 (GRCm39) |
|
probably null |
Het |
| Fen1 |
A |
G |
19: 10,178,051 (GRCm39) |
V131A |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,892,092 (GRCm38) |
E587G |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,477 (GRCm39) |
T206A |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,730 (GRCm39) |
E228G |
possibly damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,560 (GRCm39) |
F379L |
probably damaging |
Het |
| Gcnt2 |
A |
C |
13: 41,014,717 (GRCm39) |
E296A |
probably damaging |
Het |
| Gm7145 |
T |
A |
1: 117,913,870 (GRCm39) |
C251S |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,059,417 (GRCm39) |
P810L |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,366,726 (GRCm39) |
L87M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,036,427 (GRCm39) |
S1122G |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 63,012,570 (GRCm39) |
D46V |
probably damaging |
Het |
| Kcnn3 |
T |
G |
3: 89,552,830 (GRCm39) |
Y511* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,926,058 (GRCm39) |
I66N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,703,974 (GRCm39) |
H39L |
probably benign |
Het |
| Kmo |
C |
T |
1: 175,487,261 (GRCm39) |
T404I |
possibly damaging |
Het |
| Krt222 |
C |
T |
11: 99,125,884 (GRCm39) |
|
probably null |
Het |
| Magi3 |
G |
C |
3: 103,923,013 (GRCm39) |
H1235D |
probably benign |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,470,609 (GRCm39) |
Q583* |
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,253,327 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,288,645 (GRCm39) |
F1193L |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,014 (GRCm39) |
M181K |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,104,616 (GRCm39) |
V796D |
probably damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,363 (GRCm39) |
F301S |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,105,485 (GRCm39) |
V832I |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,218,346 (GRCm39) |
S244Y |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,353 (GRCm39) |
C310S |
probably benign |
Het |
| Or2ak7 |
A |
T |
11: 58,574,830 (GRCm39) |
T44S |
possibly damaging |
Het |
| Or4e1 |
T |
A |
14: 52,701,352 (GRCm39) |
Y38F |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,566 (GRCm39) |
T163S |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 140,817,586 (GRCm39) |
C132S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,315,015 (GRCm39) |
|
probably null |
Het |
| Polr2a |
G |
A |
11: 69,635,052 (GRCm39) |
T569M |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,458 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sc5d |
T |
C |
9: 42,166,717 (GRCm39) |
E274G |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,731,087 (GRCm39) |
|
probably null |
Het |
| Serpinb11 |
T |
A |
1: 107,299,972 (GRCm39) |
I106N |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,733 (GRCm39) |
R516K |
probably damaging |
Het |
| Sirt2 |
G |
T |
7: 28,487,222 (GRCm39) |
C291F |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,344,044 (GRCm39) |
V314A |
probably damaging |
Het |
| Stat6 |
C |
T |
10: 127,493,581 (GRCm39) |
|
probably null |
Het |
| Strn3 |
A |
G |
12: 51,656,890 (GRCm39) |
V712A |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,233,437 (GRCm39) |
G84C |
possibly damaging |
Het |
| Tnik |
C |
A |
3: 28,704,328 (GRCm39) |
L996I |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,136,817 (GRCm39) |
T129K |
probably damaging |
Het |
| Triml1 |
G |
T |
8: 43,591,793 (GRCm39) |
Y188* |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,921,705 (GRCm39) |
Y760H |
probably damaging |
Het |
| Ubash3a |
A |
T |
17: 31,458,246 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Usp49 |
T |
A |
17: 47,983,827 (GRCm39) |
C61* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,116 (GRCm39) |
V336E |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,324,102 (GRCm39) |
V1135A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,940,503 (GRCm39) |
V24A |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,705,798 (GRCm39) |
Y426H |
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 |
|
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'- CCCTCAAAGACGTGCAGAAG -3'
(R):5'- ATTTCTCTGTGGGGACAGAAAGG -3'
Sequencing Primer
(F):5'- CGTGCAGAAGAGGATGTATGAGTCC -3'
(R):5'- CAGAAAGGGCCAGCTTAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation