Incidental Mutation 'R8699:Uaca'
| ID |
668942 |
| 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 |
068553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R8699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60778347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 911
(L911F)
|
| 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: L911F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: L911F
| 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: L909F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,450,515 (GRCm39) |
W30R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,627,199 (GRCm39) |
D1555G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,483,373 (GRCm39) |
T1241A |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,243,519 (GRCm39) |
V881I |
probably benign |
Het |
| Appl1 |
G |
A |
14: 26,662,212 (GRCm39) |
S490L |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,567,664 (GRCm39) |
T81A |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,209,184 (GRCm39) |
S754P |
possibly damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Cad |
T |
C |
5: 31,233,605 (GRCm39) |
V1951A |
possibly damaging |
Het |
| Cadm3 |
T |
A |
1: 173,168,683 (GRCm39) |
Y295F |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,462,995 (GRCm39) |
I59T |
probably damaging |
Het |
| Ccr6 |
C |
T |
17: 8,475,398 (GRCm39) |
T201M |
probably benign |
Het |
| Cd5 |
A |
G |
19: 10,702,556 (GRCm39) |
F209S |
possibly damaging |
Het |
| Cep126 |
A |
C |
9: 8,087,362 (GRCm39) |
D1017E |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,727,945 (GRCm39) |
K82E |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,484,228 (GRCm39) |
D427V |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,455 (GRCm39) |
N1496I |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,375,291 (GRCm39) |
Y274H |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,388,770 (GRCm39) |
S1479I |
probably damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,143 (GRCm39) |
C55S |
probably damaging |
Het |
| Dleu7 |
G |
A |
14: 62,530,279 (GRCm39) |
R41C |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,171,321 (GRCm39) |
T972A |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,672,072 (GRCm39) |
T1464A |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,779,193 (GRCm39) |
I224T |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,162,277 (GRCm39) |
I774V |
possibly damaging |
Het |
| Gclm |
T |
G |
3: 122,059,972 (GRCm39) |
S251A |
possibly damaging |
Het |
| Gm13889 |
T |
C |
2: 93,787,327 (GRCm39) |
Q49R |
unknown |
Het |
| Gm35315 |
T |
A |
5: 110,228,392 (GRCm39) |
H18L |
probably benign |
Het |
| Gm9949 |
G |
A |
18: 62,317,043 (GRCm39) |
G65R |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
C |
A |
9: 4,424,347 (GRCm39) |
K839N |
probably damaging |
Het |
| Gria4 |
T |
G |
9: 4,424,351 (GRCm39) |
Y838S |
probably damaging |
Het |
| Hrh3 |
A |
G |
2: 179,743,149 (GRCm39) |
W160R |
probably damaging |
Het |
| Htr4 |
G |
A |
18: 62,570,763 (GRCm39) |
A273T |
probably damaging |
Het |
| Lig3 |
G |
T |
11: 82,685,376 (GRCm39) |
C599F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,172,207 (GRCm39) |
V1594E |
|
Het |
| Map3k10 |
A |
T |
7: 27,367,780 (GRCm39) |
V286D |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,015,910 (GRCm39) |
V117E |
unknown |
Het |
| Mdga1 |
C |
T |
17: 30,061,348 (GRCm39) |
V548M |
possibly damaging |
Het |
| Mms22l |
A |
T |
4: 24,507,363 (GRCm39) |
L248F |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,096 (GRCm39) |
D379G |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,037,246 (GRCm39) |
V7064A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,102,563 (GRCm39) |
T4570M |
probably benign |
Het |
| Npy5r |
G |
T |
8: 67,134,274 (GRCm39) |
T173K |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,822 (GRCm39) |
I175N |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,652,246 (GRCm39) |
M226V |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,828 (GRCm39) |
F105L |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,330 (GRCm39) |
C112S |
possibly damaging |
Het |
| Or8u10 |
A |
T |
2: 85,915,518 (GRCm39) |
I201N |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,631 (GRCm38) |
I46T |
possibly damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,064,076 (GRCm39) |
I247F |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,975 (GRCm39) |
I228L |
probably benign |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,474 (GRCm39) |
S866G |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,546,587 (GRCm39) |
S304C |
probably damaging |
Het |
| Pramel11 |
A |
T |
4: 143,623,762 (GRCm39) |
N137K |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,959,629 (GRCm39) |
F279I |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rest |
G |
A |
5: 77,429,389 (GRCm39) |
G603R |
probably benign |
Het |
| Rgs17 |
A |
T |
10: 5,868,194 (GRCm39) |
L9M |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,133 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sec24b |
C |
A |
3: 129,798,653 (GRCm39) |
R572I |
probably damaging |
Het |
| Setd1a |
G |
T |
7: 127,385,774 (GRCm39) |
R827L |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,859,235 (GRCm39) |
Y1091C |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Stat4 |
T |
A |
1: 52,111,096 (GRCm39) |
M181K |
probably benign |
Het |
| Stk16 |
A |
G |
1: 75,188,682 (GRCm39) |
E67G |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,268,234 (GRCm39) |
V537A |
possibly damaging |
Het |
| Tmc8 |
A |
G |
11: 117,674,361 (GRCm39) |
E101G |
possibly damaging |
Het |
| Tmem106a |
A |
T |
11: 101,473,120 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,293,772 (GRCm39) |
I922N |
probably damaging |
Het |
| Ubn1 |
A |
T |
16: 4,881,567 (GRCm39) |
I200L |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,574 (GRCm39) |
D4312G |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,528,678 (GRCm39) |
Y1255F |
probably benign |
Het |
| Vmn1r170 |
C |
T |
7: 23,306,080 (GRCm39) |
Q161* |
probably null |
Het |
| Vmn1r175 |
G |
T |
7: 23,508,234 (GRCm39) |
A131D |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,155,742 (GRCm39) |
N15K |
probably benign |
Het |
| Wdr46 |
T |
A |
17: 34,167,826 (GRCm39) |
I513N |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,297,840 (GRCm39) |
N159D |
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 |
|
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 |
|
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'- ACTTATGTCTGAAAACAGCAGC -3'
(R):5'- TGATGCACTCCTGGATGGTG -3'
Sequencing Primer
(F):5'- CTTGAAAAAGACTCTGAGTAGCC -3'
(R):5'- CTGGGCCTTGATTTCAGCG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation