Incidental Mutation 'IGL01764:1700113H08Rik'
ID |
153634 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700113H08Rik
|
Ensembl Gene |
ENSMUSG00000047129 |
Gene Name |
RIKEN cDNA 1700113H08 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01764
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86893909-87066451 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 86909910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169849]
[ENSMUST00000189456]
|
AlphaFold |
E9Q9Q5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169849
AA Change: M1L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130852 Gene: ENSMUSG00000047129 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DUF4607
|
71 |
325 |
2.1e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189456
AA Change: M1L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000140447 Gene: ENSMUSG00000047129 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:DUF4607
|
45 |
206 |
6.2e-38 |
PFAM |
|
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 |
BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 1700113H08Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01688:1700113H08Rik
|
APN |
10 |
87,000,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:1700113H08Rik
|
APN |
10 |
87,061,754 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02756:1700113H08Rik
|
APN |
10 |
87,000,970 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03202:1700113H08Rik
|
APN |
10 |
86,909,911 (GRCm39) |
start codon destroyed |
probably null |
0.35 |
IGL03393:1700113H08Rik
|
APN |
10 |
86,909,902 (GRCm39) |
utr 5 prime |
probably benign |
|
R0255:1700113H08Rik
|
UTSW |
10 |
87,061,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R0409:1700113H08Rik
|
UTSW |
10 |
87,061,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R0744:1700113H08Rik
|
UTSW |
10 |
87,000,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:1700113H08Rik
|
UTSW |
10 |
87,000,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:1700113H08Rik
|
UTSW |
10 |
86,957,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R2128:1700113H08Rik
|
UTSW |
10 |
87,066,066 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2129:1700113H08Rik
|
UTSW |
10 |
87,066,066 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4108:1700113H08Rik
|
UTSW |
10 |
87,061,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:1700113H08Rik
|
UTSW |
10 |
87,061,808 (GRCm39) |
missense |
probably benign |
0.00 |
R6345:1700113H08Rik
|
UTSW |
10 |
87,061,913 (GRCm39) |
missense |
probably benign |
0.43 |
R6372:1700113H08Rik
|
UTSW |
10 |
87,066,088 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6710:1700113H08Rik
|
UTSW |
10 |
87,061,923 (GRCm39) |
missense |
probably benign |
0.00 |
R6971:1700113H08Rik
|
UTSW |
10 |
87,000,903 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7055:1700113H08Rik
|
UTSW |
10 |
87,062,083 (GRCm39) |
missense |
probably damaging |
0.99 |
R7713:1700113H08Rik
|
UTSW |
10 |
87,066,173 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7808:1700113H08Rik
|
UTSW |
10 |
86,957,297 (GRCm39) |
missense |
probably benign |
0.33 |
R7838:1700113H08Rik
|
UTSW |
10 |
87,042,061 (GRCm39) |
splice site |
probably null |
|
R8293:1700113H08Rik
|
UTSW |
10 |
87,061,864 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9041:1700113H08Rik
|
UTSW |
10 |
87,062,054 (GRCm39) |
missense |
probably benign |
0.03 |
R9351:1700113H08Rik
|
UTSW |
10 |
87,066,068 (GRCm39) |
missense |
probably benign |
0.27 |
|
Posted On |
2014-02-04 |