Incidental Mutation 'R3110:Uaca'
| ID |
263832 |
| 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 |
040584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R3110 (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 60778781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1054
(E1054G)
|
| 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: E1056G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: E1056G
| 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: E1054G
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: E878G
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Acads |
T |
C |
5: 115,255,757 (GRCm39) |
H26R |
probably benign |
Het |
| Acer1 |
G |
A |
17: 57,265,406 (GRCm39) |
T141I |
probably damaging |
Het |
| Adam15 |
C |
G |
3: 89,254,764 (GRCm39) |
V99L |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,368,331 (GRCm39) |
V97A |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,491,720 (GRCm39) |
T94A |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,694,119 (GRCm39) |
N345S |
probably damaging |
Het |
| Btn1a1 |
T |
A |
13: 23,645,721 (GRCm39) |
N216I |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,002,831 (GRCm39) |
W62* |
probably null |
Het |
| Ccdc141 |
C |
T |
2: 76,869,830 (GRCm39) |
V892I |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Cdc7 |
T |
G |
5: 107,122,564 (GRCm39) |
|
probably null |
Het |
| Cpb1 |
C |
T |
3: 20,319,521 (GRCm39) |
V188M |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,095,371 (GRCm39) |
I101T |
possibly damaging |
Het |
| Dqx1 |
T |
C |
6: 83,035,953 (GRCm39) |
V95A |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,938,123 (GRCm39) |
D90E |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,534,225 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,335,879 (GRCm39) |
I438M |
probably benign |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gm9932 |
A |
T |
5: 100,346,794 (GRCm39) |
|
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpx7 |
C |
A |
4: 108,260,470 (GRCm39) |
V109F |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,336,591 (GRCm39) |
|
probably null |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| H1f4 |
T |
C |
13: 23,805,829 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,440,038 (GRCm39) |
Y32C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Iigp1 |
T |
C |
18: 60,523,983 (GRCm39) |
I367T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,388,632 (GRCm39) |
E285G |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,622,915 (GRCm39) |
C662* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,075,863 (GRCm39) |
|
probably benign |
Het |
| Lipe |
T |
C |
7: 25,097,848 (GRCm39) |
T32A |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,698,898 (GRCm39) |
Y2475C |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,582,330 (GRCm39) |
D607G |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Mlc1 |
A |
T |
15: 88,850,199 (GRCm39) |
D192E |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,299,225 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,752,095 (GRCm39) |
D260G |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,297 (GRCm39) |
V305A |
probably benign |
Het |
| Nodal |
G |
A |
10: 61,260,276 (GRCm39) |
R309Q |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,476,881 (GRCm39) |
N128S |
possibly damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,421 (GRCm39) |
F105I |
probably damaging |
Het |
| Or12j5 |
A |
G |
7: 140,083,832 (GRCm39) |
I180T |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,884 (GRCm39) |
Y323C |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,461,757 (GRCm39) |
C585S |
probably benign |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 177,920,810 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,616,952 (GRCm39) |
D766V |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
G |
2: 111,058,399 (GRCm39) |
L131F |
probably damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,800,570 (GRCm39) |
T547S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,116,079 (GRCm39) |
M186K |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,757,112 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,344,369 (GRCm39) |
D362G |
possibly damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,114 (GRCm39) |
L15P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scrib |
A |
T |
15: 75,941,223 (GRCm39) |
I5N |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,326 (GRCm39) |
Q2005* |
probably null |
Het |
| Sppl3 |
A |
T |
5: 115,212,923 (GRCm39) |
S51C |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,768,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,844,987 (GRCm39) |
I6K |
unknown |
Het |
| Tas2r120 |
A |
T |
6: 132,634,731 (GRCm39) |
H271L |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,093,057 (GRCm39) |
D33G |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,943,856 (GRCm39) |
T986S |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,845 (GRCm39) |
H32R |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,410,573 (GRCm39) |
I360T |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,268,736 (GRCm39) |
|
probably null |
Het |
| Wee1 |
T |
A |
7: 109,730,043 (GRCm39) |
S382R |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,771 (GRCm39) |
S92P |
probably damaging |
Het |
| Zfp1004 |
C |
G |
2: 150,034,141 (GRCm39) |
P185R |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,160 (GRCm39) |
C593R |
probably damaging |
Het |
| Zfp879 |
T |
G |
11: 50,723,989 (GRCm39) |
I283L |
possibly 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 |
|
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 |
|
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'- GCAAGTTCAAGGCCACAGAG -3'
(R):5'- TCAACTGCTCAATGGTGCC -3'
Sequencing Primer
(F):5'- TTCAAGGCCACAGAGAAAGGACTG -3'
(R):5'- TCAATGGTGCCGTTGAGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation