Incidental Mutation 'R0094:1700006A11Rik'
| ID |
17203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700006A11Rik
|
| Ensembl Gene |
ENSMUSG00000027973 |
| Gene Name |
RIKEN cDNA 1700006A11 gene |
| Synonyms |
|
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
124194639-124219688 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 124203427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029598]
[ENSMUST00000198630]
|
| AlphaFold |
B9EHI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029598
|
| SMART Domains |
Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
| 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
|
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
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 |
|
R0097:1700006A11Rik
|
UTSW |
3 |
124,206,129 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
Incidental Mutation