Incidental Mutation 'IGL01118:1700006A11Rik'
ID |
50759 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700006A11Rik
|
Ensembl Gene |
ENSMUSG00000027973 |
Gene Name |
RIKEN cDNA 1700006A11 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL01118
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
124194639-124219688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124195058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 539
(R539Q)
|
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: R539Q
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000029598 Gene: ENSMUSG00000027973 AA Change: R539Q
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: ENSMUST00000196005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196028
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198630
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
Dnmt3l |
T |
C |
10: 77,893,120 (GRCm39) |
F299S |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
G6pd2 |
A |
T |
5: 61,967,406 (GRCm39) |
M394L |
probably benign |
Het |
Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
Mgl2 |
A |
G |
11: 70,025,015 (GRCm39) |
E12G |
probably benign |
Het |
Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
Taar8a |
A |
T |
10: 23,952,759 (GRCm39) |
H121L |
probably damaging |
Het |
Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
Ttf2 |
A |
G |
3: 100,874,413 (GRCm39) |
|
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
Het |
|
Other mutations in 1700006A11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |