Incidental Mutation 'R9509:Uaca'
ID |
718011 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R9509 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
60701824-60787652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60779498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1295
(T1295M)
|
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: T1295M
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062047 Gene: ENSMUSG00000034485 AA Change: T1295M
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 |
possibly damaging
Transcript: ENSMUST00000214354
AA Change: T1293M
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 137,771,595 (GRCm39) |
|
probably benign |
Het |
Acan |
C |
T |
7: 78,740,768 (GRCm39) |
P378L |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,189,021 (GRCm39) |
D2145G |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,096,349 (GRCm39) |
D2408V |
probably benign |
Het |
Apol10a |
C |
A |
15: 77,372,968 (GRCm39) |
Y201* |
probably null |
Het |
Arhgef4 |
T |
C |
1: 34,762,772 (GRCm39) |
I676T |
unknown |
Het |
Capn13 |
T |
C |
17: 73,644,446 (GRCm39) |
H361R |
probably benign |
Het |
Ccdc88a |
G |
A |
11: 29,414,143 (GRCm39) |
V894I |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,099,485 (GRCm39) |
L1655Q |
possibly damaging |
Het |
Chi3l1 |
G |
A |
1: 134,116,413 (GRCm39) |
E307K |
probably damaging |
Het |
Dhfr |
T |
A |
13: 92,504,739 (GRCm39) |
I139N |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,072,985 (GRCm39) |
S422G |
probably benign |
Het |
Dspp |
C |
A |
5: 104,325,657 (GRCm39) |
D673E |
unknown |
Het |
Dst |
G |
T |
1: 33,947,465 (GRCm39) |
W38L |
possibly damaging |
Het |
Dynlt1b |
A |
T |
17: 6,702,415 (GRCm39) |
E26D |
probably benign |
Het |
Dysf |
A |
T |
6: 84,187,779 (GRCm39) |
Y2059F |
probably damaging |
Het |
Efcab5 |
G |
A |
11: 76,994,977 (GRCm39) |
S1198F |
possibly damaging |
Het |
Erp44 |
T |
C |
4: 48,208,750 (GRCm39) |
I237V |
probably benign |
Het |
Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,200,713 (GRCm39) |
V787A |
possibly damaging |
Het |
Fbn2 |
C |
G |
18: 58,247,550 (GRCm39) |
G448A |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,977,217 (GRCm39) |
V164A |
possibly damaging |
Het |
Gabpa |
G |
A |
16: 84,649,395 (GRCm39) |
V201I |
possibly damaging |
Het |
Gm12253 |
G |
A |
11: 58,330,771 (GRCm39) |
V177M |
probably benign |
Het |
Il2rb |
C |
A |
15: 78,374,416 (GRCm39) |
W84L |
probably damaging |
Het |
Kank4 |
T |
A |
4: 98,663,104 (GRCm39) |
T695S |
possibly damaging |
Het |
Klhl29 |
T |
C |
12: 5,190,629 (GRCm39) |
Q122R |
probably damaging |
Het |
L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,188,955 (GRCm39) |
Y112C |
probably damaging |
Het |
Lins1 |
C |
T |
7: 66,358,119 (GRCm39) |
Q85* |
probably null |
Het |
Lpcat1 |
T |
A |
13: 73,642,951 (GRCm39) |
V175E |
probably damaging |
Het |
Mdm1 |
T |
C |
10: 117,982,730 (GRCm39) |
S122P |
probably damaging |
Het |
Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,904,543 (GRCm39) |
N197S |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,792,971 (GRCm39) |
L83* |
probably null |
Het |
Nlrc3 |
T |
C |
16: 3,782,680 (GRCm39) |
D259G |
probably damaging |
Het |
Nsf |
A |
T |
11: 103,754,074 (GRCm39) |
D487E |
probably benign |
Het |
Or2n1e |
A |
G |
17: 38,586,281 (GRCm39) |
I206M |
probably benign |
Het |
Or2y1 |
A |
G |
11: 49,385,476 (GRCm39) |
I39V |
probably benign |
Het |
Or5p50 |
T |
A |
7: 107,422,440 (GRCm39) |
T79S |
probably benign |
Het |
Palb2 |
T |
A |
7: 121,727,399 (GRCm39) |
K157M |
probably damaging |
Het |
Pbrm1 |
T |
C |
14: 30,806,914 (GRCm39) |
S1114P |
probably damaging |
Het |
Pdia6 |
T |
A |
12: 17,330,989 (GRCm39) |
M364K |
probably damaging |
Het |
Pf4 |
G |
T |
5: 90,921,048 (GRCm39) |
G83W |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,338,721 (GRCm39) |
M79T |
probably benign |
Het |
Pip4p2 |
T |
A |
4: 14,892,485 (GRCm39) |
C116* |
probably null |
Het |
Polr3b |
T |
G |
10: 84,467,650 (GRCm39) |
Y77D |
probably damaging |
Het |
Pomt2 |
T |
A |
12: 87,184,802 (GRCm39) |
H208L |
possibly damaging |
Het |
Pprc1 |
A |
T |
19: 46,051,838 (GRCm39) |
K456M |
unknown |
Het |
Rasgef1a |
A |
T |
6: 118,061,391 (GRCm39) |
K119* |
probably null |
Het |
Rbbp6 |
T |
A |
7: 122,597,791 (GRCm39) |
Y701N |
unknown |
Het |
Relch |
A |
G |
1: 105,614,704 (GRCm39) |
E216G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,549,198 (GRCm39) |
V70E |
possibly damaging |
Het |
Rgs17 |
T |
C |
10: 5,812,576 (GRCm39) |
N41S |
probably benign |
Het |
Rhbdf1 |
A |
T |
11: 32,165,055 (GRCm39) |
I106N |
possibly damaging |
Het |
Robo1 |
T |
A |
16: 72,759,167 (GRCm39) |
N393K |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Scart2 |
T |
A |
7: 139,879,644 (GRCm39) |
Y1093* |
probably null |
Het |
Scnn1a |
A |
T |
6: 125,319,604 (GRCm39) |
D495V |
probably damaging |
Het |
Serpinf2 |
G |
A |
11: 75,328,895 (GRCm39) |
P45L |
probably benign |
Het |
Setdb1 |
A |
C |
3: 95,261,900 (GRCm39) |
I122S |
possibly damaging |
Het |
Slc4a9 |
A |
T |
18: 36,668,443 (GRCm39) |
M701L |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,132,229 (GRCm39) |
N260K |
probably benign |
Het |
Supv3l1 |
T |
C |
10: 62,265,411 (GRCm39) |
T710A |
probably benign |
Het |
Syne1 |
A |
T |
10: 5,298,927 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,766,292 (GRCm39) |
Y743* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,210 (GRCm39) |
Y388* |
probably null |
Het |
Tor3a |
A |
G |
1: 156,483,499 (GRCm39) |
S308P |
possibly damaging |
Het |
Trim12a |
T |
C |
7: 103,953,551 (GRCm39) |
K187E |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,625,249 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 188,648,440 (GRCm39) |
Y4682N |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,687 (GRCm39) |
N684S |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,404,075 (GRCm39) |
I39L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,841,457 (GRCm39) |
M2496L |
possibly damaging |
Het |
Zbtb5 |
C |
T |
4: 44,994,332 (GRCm39) |
V351M |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,876 (GRCm39) |
T394S |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,943 (GRCm39) |
E361G |
probably damaging |
Het |
Zfp54 |
C |
A |
17: 21,654,629 (GRCm39) |
Y374* |
probably null |
Het |
Zfp869 |
C |
A |
8: 70,159,596 (GRCm39) |
G326W |
probably damaging |
Het |
Zfyve28 |
C |
T |
5: 34,354,892 (GRCm39) |
A806T |
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 |
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 |
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'- GGCGCTGAAGAACTTAGAGACC -3'
(R):5'- CAAATGGCTTGGTAGACCGG -3'
Sequencing Primer
(F):5'- CAGAGAGGTCGTCGACATGTC -3'
(R):5'- AGACCGGACTGTGGGGTTC -3'
|
Posted On |
2022-07-18 |