Incidental Mutation 'IGL00832:1700030K09Rik'
| ID |
8424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700030K09Rik
|
| Ensembl Gene |
ENSMUSG00000052794 |
| Gene Name |
RIKEN cDNA 1700030K09 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL00832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73197724-73214385 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73209193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 407
(Y407C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064853]
[ENSMUST00000121902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064853
AA Change: Y441C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: Y441C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
438 |
608 |
2e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121902
AA Change: Y407C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: Y407C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
400 |
575 |
1.3e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139130
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
| Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
| Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
| E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
| Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
| Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
| Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
| Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in 1700030K09Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:1700030K09Rik
|
APN |
8 |
73,199,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01449:1700030K09Rik
|
APN |
8 |
73,198,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01714:1700030K09Rik
|
APN |
8 |
73,209,413 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03256:1700030K09Rik
|
APN |
8 |
73,199,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03275:1700030K09Rik
|
APN |
8 |
73,198,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:1700030K09Rik
|
UTSW |
8 |
73,199,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0501:1700030K09Rik
|
UTSW |
8 |
73,209,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1444:1700030K09Rik
|
UTSW |
8 |
73,205,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:1700030K09Rik
|
UTSW |
8 |
73,203,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:1700030K09Rik
|
UTSW |
8 |
73,208,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2154:1700030K09Rik
|
UTSW |
8 |
73,208,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2298:1700030K09Rik
|
UTSW |
8 |
73,209,247 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3743:1700030K09Rik
|
UTSW |
8 |
73,199,013 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4787:1700030K09Rik
|
UTSW |
8 |
73,199,008 (GRCm39) |
nonsense |
probably null |
|
|
R4860:1700030K09Rik
|
UTSW |
8 |
73,209,267 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4860:1700030K09Rik
|
UTSW |
8 |
73,209,267 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4994:1700030K09Rik
|
UTSW |
8 |
73,208,962 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5857:1700030K09Rik
|
UTSW |
8 |
73,203,369 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6256:1700030K09Rik
|
UTSW |
8 |
73,205,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:1700030K09Rik
|
UTSW |
8 |
73,209,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:1700030K09Rik
|
UTSW |
8 |
73,203,303 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7923:1700030K09Rik
|
UTSW |
8 |
73,198,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:1700030K09Rik
|
UTSW |
8 |
73,199,219 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9109:1700030K09Rik
|
UTSW |
8 |
73,198,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9298:1700030K09Rik
|
UTSW |
8 |
73,198,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9409:1700030K09Rik
|
UTSW |
8 |
73,211,888 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation