Incidental Mutation 'R0047:1110002E22Rik'
ID |
16133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
038341-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R0047 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137772025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 405
(T405A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053318]
[ENSMUST00000163080]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053318
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163080
AA Change: T405A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: T405A
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
low complexity region
|
459 |
505 |
N/A |
INTRINSIC |
low complexity region
|
667 |
680 |
N/A |
INTRINSIC |
low complexity region
|
937 |
948 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1105 |
1115 |
N/A |
INTRINSIC |
low complexity region
|
1224 |
1242 |
N/A |
INTRINSIC |
low complexity region
|
1376 |
1385 |
N/A |
INTRINSIC |
Pfam:DUF4585
|
1598 |
1667 |
6.9e-32 |
PFAM |
low complexity region
|
1723 |
1738 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0774 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.8%
- 20x: 65.9%
|
Validation Efficiency |
95% (110/116) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
A |
T |
17: 57,262,624 (GRCm39) |
D175E |
possibly damaging |
Het |
Adamts9 |
G |
A |
6: 92,882,287 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,857 (GRCm39) |
S427P |
probably benign |
Het |
Arid4a |
T |
G |
12: 71,122,193 (GRCm39) |
L858W |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,098,647 (GRCm39) |
F310S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,962,341 (GRCm39) |
L481M |
possibly damaging |
Het |
Bmper |
T |
A |
9: 23,317,982 (GRCm39) |
C534S |
probably damaging |
Het |
Cacna1d |
T |
G |
14: 30,068,747 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,589,812 (GRCm39) |
|
probably null |
Het |
Chchd1 |
T |
C |
14: 20,754,231 (GRCm39) |
S48P |
possibly damaging |
Het |
Cnot7 |
A |
G |
8: 40,948,962 (GRCm39) |
|
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,107 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
T |
A |
7: 26,466,251 (GRCm39) |
D351E |
probably benign |
Het |
Dctn1 |
G |
T |
6: 83,159,614 (GRCm39) |
G31* |
probably null |
Het |
Duox1 |
T |
A |
2: 122,177,122 (GRCm39) |
|
probably benign |
Het |
Egflam |
T |
G |
15: 7,282,911 (GRCm39) |
E382A |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 53,208,542 (GRCm39) |
N73S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,892,214 (GRCm39) |
M866K |
probably damaging |
Het |
Gm3333 |
A |
G |
13: 62,422,285 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
T |
A |
13: 59,792,914 (GRCm39) |
H197L |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,746,579 (GRCm39) |
K132E |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,710,339 (GRCm39) |
|
probably benign |
Het |
Hrc |
T |
A |
7: 44,986,113 (GRCm39) |
S421R |
probably benign |
Het |
Ighg2c |
T |
A |
12: 113,251,788 (GRCm39) |
|
probably benign |
Het |
Ihh |
A |
G |
1: 74,985,750 (GRCm39) |
I245T |
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,300,010 (GRCm39) |
M65K |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,314,106 (GRCm39) |
I33V |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,102,181 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,328,600 (GRCm39) |
I188T |
possibly damaging |
Het |
Lpp |
T |
A |
16: 24,480,550 (GRCm39) |
|
probably benign |
Het |
Mark2 |
A |
C |
19: 7,260,942 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,451,910 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,928,727 (GRCm39) |
|
probably benign |
Het |
Mtr |
A |
T |
13: 12,237,112 (GRCm39) |
S569T |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,258,063 (GRCm39) |
S1752T |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,063,489 (GRCm39) |
L565H |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,658,660 (GRCm39) |
K296E |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,740,780 (GRCm39) |
|
probably null |
Het |
Or51ab3 |
A |
T |
7: 103,201,529 (GRCm39) |
Y179F |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,574 (GRCm39) |
G152D |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,479,953 (GRCm39) |
E82G |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,901 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,901,618 (GRCm39) |
E548V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,073,895 (GRCm39) |
E273* |
probably null |
Het |
Ppp2r1b |
C |
T |
9: 50,772,873 (GRCm39) |
R117* |
probably null |
Het |
Psg-ps1 |
A |
G |
7: 17,411,806 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1l |
G |
A |
1: 160,059,359 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,437,204 (GRCm39) |
M49K |
possibly damaging |
Het |
Rtel1 |
T |
G |
2: 180,965,198 (GRCm39) |
I146M |
probably damaging |
Het |
Sdr9c7 |
A |
T |
10: 127,739,541 (GRCm39) |
M219L |
probably benign |
Het |
Serpinb1a |
A |
T |
13: 33,034,259 (GRCm39) |
L44Q |
probably damaging |
Het |
Slc13a4 |
A |
G |
6: 35,264,297 (GRCm39) |
I190T |
possibly damaging |
Het |
Slc46a2 |
A |
G |
4: 59,914,392 (GRCm39) |
L177P |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,227,068 (GRCm39) |
V167M |
possibly damaging |
Het |
Snrnp200 |
C |
T |
2: 127,076,874 (GRCm39) |
|
probably benign |
Het |
Snx13 |
C |
A |
12: 35,151,123 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,494,402 (GRCm39) |
A828T |
probably damaging |
Het |
Spic |
A |
G |
10: 88,511,803 (GRCm39) |
L151P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,669,724 (GRCm39) |
Q535K |
probably damaging |
Het |
Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,446,443 (GRCm39) |
|
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,606,547 (GRCm39) |
I469T |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,147,954 (GRCm39) |
|
probably benign |
Het |
Top2a |
T |
A |
11: 98,888,682 (GRCm39) |
I1260L |
probably benign |
Het |
Treml1 |
C |
A |
17: 48,672,008 (GRCm39) |
S91* |
probably null |
Het |
Trmt11 |
T |
C |
10: 30,411,239 (GRCm39) |
N418S |
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,974,667 (GRCm39) |
Y801C |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,414,403 (GRCm39) |
A2782V |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,763,333 (GRCm39) |
L29P |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,899 (GRCm39) |
I480T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,153 (GRCm39) |
V147E |
probably damaging |
Het |
|
Other mutations in 1110002E22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0026:1110002E22Rik
|
UTSW |
3 |
137,772,566 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0047:1110002E22Rik
|
UTSW |
3 |
137,772,025 (GRCm39) |
missense |
probably damaging |
0.97 |
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R0197:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
R0394:1110002E22Rik
|
UTSW |
3 |
137,773,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R0401:1110002E22Rik
|
UTSW |
3 |
137,776,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0496:1110002E22Rik
|
UTSW |
3 |
137,774,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0591:1110002E22Rik
|
UTSW |
3 |
137,774,704 (GRCm39) |
nonsense |
probably null |
|
R0711:1110002E22Rik
|
UTSW |
3 |
137,773,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R0883:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0908:1110002E22Rik
|
UTSW |
3 |
137,775,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R0968:1110002E22Rik
|
UTSW |
3 |
137,772,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R1023:1110002E22Rik
|
UTSW |
3 |
137,772,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:1110002E22Rik
|
UTSW |
3 |
137,773,661 (GRCm39) |
missense |
probably benign |
0.20 |
R1472:1110002E22Rik
|
UTSW |
3 |
137,773,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1538:1110002E22Rik
|
UTSW |
3 |
137,771,162 (GRCm39) |
missense |
probably benign |
0.02 |
R1648:1110002E22Rik
|
UTSW |
3 |
137,775,181 (GRCm39) |
missense |
probably benign |
0.18 |
R1800:1110002E22Rik
|
UTSW |
3 |
137,772,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:1110002E22Rik
|
UTSW |
3 |
137,773,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R1974:1110002E22Rik
|
UTSW |
3 |
137,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
R1991:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
R2102:1110002E22Rik
|
UTSW |
3 |
137,770,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R2761:1110002E22Rik
|
UTSW |
3 |
137,773,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R2899:1110002E22Rik
|
UTSW |
3 |
137,771,443 (GRCm39) |
missense |
probably benign |
0.00 |
R3618:1110002E22Rik
|
UTSW |
3 |
137,774,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R3904:1110002E22Rik
|
UTSW |
3 |
137,772,400 (GRCm39) |
missense |
probably benign |
0.15 |
R3955:1110002E22Rik
|
UTSW |
3 |
137,773,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4520:1110002E22Rik
|
UTSW |
3 |
137,776,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R4619:1110002E22Rik
|
UTSW |
3 |
137,775,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R4736:1110002E22Rik
|
UTSW |
3 |
137,774,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R4752:1110002E22Rik
|
UTSW |
3 |
137,775,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4777:1110002E22Rik
|
UTSW |
3 |
137,771,503 (GRCm39) |
missense |
probably benign |
0.09 |
R4780:1110002E22Rik
|
UTSW |
3 |
137,771,131 (GRCm39) |
missense |
probably benign |
0.02 |
R4824:1110002E22Rik
|
UTSW |
3 |
137,771,437 (GRCm39) |
missense |
probably benign |
0.00 |
R4829:1110002E22Rik
|
UTSW |
3 |
137,774,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R4965:1110002E22Rik
|
UTSW |
3 |
137,775,433 (GRCm39) |
missense |
probably benign |
|
R5206:1110002E22Rik
|
UTSW |
3 |
137,772,272 (GRCm39) |
missense |
probably benign |
0.00 |
R5212:1110002E22Rik
|
UTSW |
3 |
137,771,611 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5373:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
R5374:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
R5506:1110002E22Rik
|
UTSW |
3 |
137,773,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R5528:1110002E22Rik
|
UTSW |
3 |
137,772,260 (GRCm39) |
missense |
probably benign |
|
R5536:1110002E22Rik
|
UTSW |
3 |
137,772,149 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5587:1110002E22Rik
|
UTSW |
3 |
137,771,170 (GRCm39) |
missense |
probably benign |
|
R5759:1110002E22Rik
|
UTSW |
3 |
137,774,419 (GRCm39) |
missense |
probably benign |
|
R5933:1110002E22Rik
|
UTSW |
3 |
137,776,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5957:1110002E22Rik
|
UTSW |
3 |
137,775,922 (GRCm39) |
missense |
probably benign |
|
R6092:1110002E22Rik
|
UTSW |
3 |
137,774,701 (GRCm39) |
missense |
probably benign |
0.02 |
R6305:1110002E22Rik
|
UTSW |
3 |
137,773,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:1110002E22Rik
|
UTSW |
3 |
137,772,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R6469:1110002E22Rik
|
UTSW |
3 |
137,772,736 (GRCm39) |
missense |
probably damaging |
0.97 |
R6499:1110002E22Rik
|
UTSW |
3 |
137,774,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6527:1110002E22Rik
|
UTSW |
3 |
137,773,288 (GRCm39) |
missense |
probably damaging |
0.99 |
R6580:1110002E22Rik
|
UTSW |
3 |
137,772,386 (GRCm39) |
missense |
probably benign |
0.00 |
R6693:1110002E22Rik
|
UTSW |
3 |
137,774,915 (GRCm39) |
missense |
probably benign |
0.00 |
R6751:1110002E22Rik
|
UTSW |
3 |
137,771,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:1110002E22Rik
|
UTSW |
3 |
137,770,930 (GRCm39) |
nonsense |
probably null |
|
R6920:1110002E22Rik
|
UTSW |
3 |
137,773,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R7001:1110002E22Rik
|
UTSW |
3 |
137,771,272 (GRCm39) |
missense |
probably benign |
|
R7145:1110002E22Rik
|
UTSW |
3 |
137,775,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:1110002E22Rik
|
UTSW |
3 |
137,775,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:1110002E22Rik
|
UTSW |
3 |
137,771,237 (GRCm39) |
missense |
probably benign |
|
R7425:1110002E22Rik
|
UTSW |
3 |
137,771,456 (GRCm39) |
missense |
probably benign |
0.00 |
R7487:1110002E22Rik
|
UTSW |
3 |
137,772,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R7557:1110002E22Rik
|
UTSW |
3 |
137,774,044 (GRCm39) |
nonsense |
probably null |
|
R7663:1110002E22Rik
|
UTSW |
3 |
137,771,887 (GRCm39) |
missense |
probably damaging |
0.98 |
R7743:1110002E22Rik
|
UTSW |
3 |
137,774,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R7799:1110002E22Rik
|
UTSW |
3 |
137,775,362 (GRCm39) |
missense |
probably benign |
0.33 |
R8181:1110002E22Rik
|
UTSW |
3 |
137,774,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R8264:1110002E22Rik
|
UTSW |
3 |
137,773,543 (GRCm39) |
missense |
probably damaging |
0.99 |
R8273:1110002E22Rik
|
UTSW |
3 |
137,772,211 (GRCm39) |
missense |
probably benign |
|
R8434:1110002E22Rik
|
UTSW |
3 |
137,773,021 (GRCm39) |
missense |
probably damaging |
0.97 |
R8530:1110002E22Rik
|
UTSW |
3 |
137,774,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R8754:1110002E22Rik
|
UTSW |
3 |
137,771,798 (GRCm39) |
missense |
probably benign |
|
R8808:1110002E22Rik
|
UTSW |
3 |
137,775,874 (GRCm39) |
missense |
probably benign |
0.01 |
R8891:1110002E22Rik
|
UTSW |
3 |
137,772,520 (GRCm39) |
nonsense |
probably null |
|
R9026:1110002E22Rik
|
UTSW |
3 |
137,770,909 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9177:1110002E22Rik
|
UTSW |
3 |
137,775,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9250:1110002E22Rik
|
UTSW |
3 |
137,772,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R9291:1110002E22Rik
|
UTSW |
3 |
137,772,464 (GRCm39) |
missense |
probably benign |
0.02 |
R9293:1110002E22Rik
|
UTSW |
3 |
137,771,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9307:1110002E22Rik
|
UTSW |
3 |
137,771,183 (GRCm39) |
missense |
probably benign |
0.04 |
R9439:1110002E22Rik
|
UTSW |
3 |
137,772,048 (GRCm39) |
missense |
probably benign |
0.00 |
R9509:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
R9582:1110002E22Rik
|
UTSW |
3 |
137,772,766 (GRCm39) |
missense |
probably damaging |
0.99 |
R9599:1110002E22Rik
|
UTSW |
3 |
137,774,267 (GRCm39) |
missense |
probably benign |
0.16 |
R9613:1110002E22Rik
|
UTSW |
3 |
137,771,126 (GRCm39) |
missense |
probably damaging |
0.98 |
R9670:1110002E22Rik
|
UTSW |
3 |
137,770,894 (GRCm39) |
missense |
probably benign |
|
X0003:1110002E22Rik
|
UTSW |
3 |
137,774,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-01-08 |