Incidental Mutation 'R0097:1700006A11Rik'
ID |
17202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700006A11Rik
|
Ensembl Gene |
ENSMUSG00000027973 |
Gene Name |
RIKEN cDNA 1700006A11 gene |
Synonyms |
|
MMRRC Submission |
038383-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0097 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
124194639-124219688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124206129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 353
(I353K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029598]
[ENSMUST00000198630]
|
AlphaFold |
B9EHI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029598
AA Change: I353K
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029598 Gene: ENSMUSG00000027973 AA Change: I353K
Domain | Start | End | E-Value | Type |
RhoGAP
|
78 |
251 |
3.63e-37 |
SMART |
RhoGAP
|
377 |
543 |
3.19e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082981
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198630
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
Validation Efficiency |
86% (56/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 1700006A11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:1700006A11Rik
|
APN |
3 |
124,195,058 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02552:1700006A11Rik
|
APN |
3 |
124,208,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:1700006A11Rik
|
APN |
3 |
124,200,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:1700006A11Rik
|
UTSW |
3 |
124,203,427 (GRCm39) |
splice site |
probably benign |
|
R0097:1700006A11Rik
|
UTSW |
3 |
124,206,129 (GRCm39) |
missense |
probably benign |
0.13 |
R0184:1700006A11Rik
|
UTSW |
3 |
124,212,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:1700006A11Rik
|
UTSW |
3 |
124,207,283 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1542:1700006A11Rik
|
UTSW |
3 |
124,208,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1549:1700006A11Rik
|
UTSW |
3 |
124,210,441 (GRCm39) |
missense |
probably benign |
0.00 |
R1779:1700006A11Rik
|
UTSW |
3 |
124,200,163 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:1700006A11Rik
|
UTSW |
3 |
124,203,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R1986:1700006A11Rik
|
UTSW |
3 |
124,212,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R2042:1700006A11Rik
|
UTSW |
3 |
124,210,377 (GRCm39) |
splice site |
probably benign |
|
R2149:1700006A11Rik
|
UTSW |
3 |
124,203,335 (GRCm39) |
missense |
probably benign |
0.33 |
R2258:1700006A11Rik
|
UTSW |
3 |
124,207,267 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2291:1700006A11Rik
|
UTSW |
3 |
124,207,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:1700006A11Rik
|
UTSW |
3 |
124,200,102 (GRCm39) |
missense |
probably benign |
0.44 |
R4912:1700006A11Rik
|
UTSW |
3 |
124,213,505 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5074:1700006A11Rik
|
UTSW |
3 |
124,210,482 (GRCm39) |
missense |
probably benign |
0.01 |
R5303:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5796:1700006A11Rik
|
UTSW |
3 |
124,215,077 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6018:1700006A11Rik
|
UTSW |
3 |
124,210,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R6198:1700006A11Rik
|
UTSW |
3 |
124,210,499 (GRCm39) |
splice site |
probably null |
|
R6504:1700006A11Rik
|
UTSW |
3 |
124,213,569 (GRCm39) |
missense |
probably benign |
|
R7124:1700006A11Rik
|
UTSW |
3 |
124,208,042 (GRCm39) |
missense |
probably benign |
0.04 |
R7248:1700006A11Rik
|
UTSW |
3 |
124,207,959 (GRCm39) |
critical splice donor site |
probably null |
|
R7351:1700006A11Rik
|
UTSW |
3 |
124,206,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:1700006A11Rik
|
UTSW |
3 |
124,201,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:1700006A11Rik
|
UTSW |
3 |
124,206,180 (GRCm39) |
missense |
probably benign |
0.00 |
R8193:1700006A11Rik
|
UTSW |
3 |
124,213,517 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8201:1700006A11Rik
|
UTSW |
3 |
124,195,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9157:1700006A11Rik
|
UTSW |
3 |
124,207,220 (GRCm39) |
missense |
probably benign |
0.22 |
R9313:1700006A11Rik
|
UTSW |
3 |
124,207,220 (GRCm39) |
missense |
probably benign |
0.22 |
R9585:1700006A11Rik
|
UTSW |
3 |
124,199,993 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9683:1700006A11Rik
|
UTSW |
3 |
124,200,095 (GRCm39) |
missense |
probably benign |
0.01 |
R9721:1700006A11Rik
|
UTSW |
3 |
124,212,932 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:1700006A11Rik
|
UTSW |
3 |
124,213,511 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-01-20 |