Incidental Mutation 'R0791:Uaca'
| ID |
82403 |
| 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 |
038971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R0791 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 60779341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1243
(Q1243K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050183
AA Change: Q1243K
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: Q1243K
| 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
AA Change: Q1241K
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: Q1065K
|
| Meta Mutation Damage Score |
0.0593 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (59/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
| Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
| Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
| Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
| H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,723,225 (GRCm39) |
V64A |
possibly damaging |
Het |
| Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
| Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,775,107 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
| Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
| Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
| Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
| Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
| Tymp |
T |
C |
15: 89,259,021 (GRCm39) |
K221R |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
| Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
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 |
|
|
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'- ATCAGAAGAACTCCTCGGTGACCC -3'
(R):5'- AATGGCTTGGTAGACCGGACTGTG -3'
Sequencing Primer
(F):5'- TGAAGCTAAAGGAAGCCCTC -3'
(R):5'- TTCTGTGCTAAGGAGCCAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation