Incidental Mutation 'R5437:Uaca'
| ID |
428428 |
| 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 |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R5437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60778733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1038
(D1038G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050183]
[ENSMUST00000214354]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050183
AA Change: D1040G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: D1040G
| 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: D1038G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216574
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217656
AA Change: D862G
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,684 (GRCm39) |
Q576K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,053,668 (GRCm39) |
N378I |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,281,591 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Fkbp10 |
A |
C |
11: 100,311,849 (GRCm39) |
D174A |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,090 (GRCm39) |
R643C |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
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 |
|
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'- ACACCATCCAGGAGTGCATC -3'
(R):5'- TGCAGAAGATTTTGGGCTGCC -3'
Sequencing Primer
(F):5'- CATCCAGGAGTGCATCAAGCTG -3'
(R):5'- AAGATTTTGGGCTGCCAGGATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation