Incidental Mutation 'IGL03092:1700006A11Rik'
ID |
418404 |
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 # |
IGL03092
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
124194639-124219688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124200119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 491
(L491P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029598]
[ENSMUST00000198630]
|
AlphaFold |
B9EHI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029598
AA Change: L491P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029598 Gene: ENSMUSG00000027973 AA Change: L491P
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
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 |
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 |
2016-08-02 |