Incidental Mutation 'R0707:Uaca'
| ID |
63173 |
| 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 |
038890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R0707 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 60755900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050183
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
| 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 benign
Transcript: ENSMUST00000214354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217656
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,617,329 (GRCm39) |
F259S |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,931 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
T |
10: 81,478,547 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,564,951 (GRCm39) |
S641P |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,986,824 (GRCm39) |
S242R |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ccdc65 |
G |
A |
15: 98,607,095 (GRCm39) |
V101I |
possibly damaging |
Het |
| Ccr7 |
T |
A |
11: 99,036,809 (GRCm39) |
T38S |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,362 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
C |
T |
8: 105,677,618 (GRCm39) |
H208Y |
possibly damaging |
Het |
| Chst1 |
C |
A |
2: 92,443,964 (GRCm39) |
N145K |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cog6 |
C |
T |
3: 52,921,283 (GRCm39) |
V108I |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,287,805 (GRCm39) |
N2881K |
unknown |
Het |
| Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,673,144 (GRCm39) |
F792I |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,049,781 (GRCm39) |
K1780R |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,708,782 (GRCm39) |
N155H |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,626,982 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
A |
2: 20,810,382 (GRCm39) |
|
probably benign |
Het |
| Flt3l |
T |
C |
7: 44,785,450 (GRCm39) |
S9G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,944,498 (GRCm39) |
E159G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
| Herc6 |
G |
A |
6: 57,639,347 (GRCm39) |
G905E |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,724,884 (GRCm39) |
N296I |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,787,151 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,830,951 (GRCm39) |
N723H |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,662,588 (GRCm39) |
Y242F |
possibly damaging |
Het |
| Msh3 |
T |
A |
13: 92,483,848 (GRCm39) |
K258* |
probably null |
Het |
| Myo1a |
T |
C |
10: 127,555,732 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,342,317 (GRCm39) |
E443K |
probably benign |
Het |
| Nupr2 |
A |
G |
5: 129,937,533 (GRCm39) |
Y34C |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,255 (GRCm39) |
|
probably benign |
Het |
| Or1af1 |
A |
T |
2: 37,110,208 (GRCm39) |
K236* |
probably null |
Het |
| Or5af2 |
T |
A |
11: 58,708,577 (GRCm39) |
L248M |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,784 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,331 (GRCm39) |
D182G |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,002 (GRCm39) |
N287S |
probably damaging |
Het |
| P2ry12 |
C |
A |
3: 59,124,908 (GRCm39) |
V256F |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,904 (GRCm39) |
I124N |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,375 (GRCm39) |
F622L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,888,863 (GRCm39) |
N361K |
probably benign |
Het |
| Plod2 |
T |
G |
9: 92,487,480 (GRCm39) |
L600V |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,446,854 (GRCm39) |
Y631H |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,197 (GRCm39) |
L693P |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,875,476 (GRCm39) |
Y1195H |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,459,091 (GRCm39) |
|
probably null |
Het |
| Ric8a |
A |
G |
7: 140,437,886 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scfd1 |
A |
T |
12: 51,459,360 (GRCm39) |
K307M |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
| Smg7 |
T |
G |
1: 152,746,508 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
| Syne3 |
A |
G |
12: 104,935,619 (GRCm39) |
L53P |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,950,569 (GRCm39) |
|
probably benign |
Het |
| Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,890,564 (GRCm39) |
T84S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,746,286 (GRCm39) |
F537I |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,758 (GRCm39) |
Y388F |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,640 (GRCm39) |
V281A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,502 (GRCm39) |
D1030E |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
| Zfp296 |
A |
G |
7: 19,313,661 (GRCm39) |
D172G |
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,229,958 (GRCm39) |
C189F |
probably 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 |
|
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 |
|
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'- acagaccTCCAACCCATTAGGGAC -3'
(R):5'- TGCCCTCATGCTGTGAGAGTCATC -3'
Sequencing Primer
(F):5'- CAGGATTCGGTTTTTAGCTGCC -3'
(R):5'- CAGGAAGGTCAAGCCTTCATTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation