Incidental Mutation 'R5959:Uaca'
| ID |
471357 |
| 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 |
044146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R5959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60778052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 811
(H811L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151172
(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: H813L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: H813L
| 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: H811L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: H635L
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
| Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
| Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
| Cfap61 |
C |
T |
2: 145,789,053 (GRCm39) |
T19M |
probably benign |
Het |
| Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
| Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
| Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
| Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,134,715 (GRCm39) |
N481D |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
| Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
| Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,629,339 (GRCm39) |
I338L |
probably benign |
Het |
| Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
| Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
| Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,954,593 (GRCm39) |
D949G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
| Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,313 (GRCm39) |
M317L |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
| Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
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 |
|
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'- CCTCACGGTGGAGATGAAAACG -3'
(R):5'- TTCTCCACGGTGCTGTTCAG -3'
Sequencing Primer
(F):5'- TACGTGCCTCTAAGGGTCAG -3'
(R):5'- TGTTCAGGGAGGCCTTCAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation