Incidental Mutation 'R6710:1700113H08Rik'
ID |
529100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700113H08Rik
|
Ensembl Gene |
ENSMUSG00000047129 |
Gene Name |
RIKEN cDNA 1700113H08 gene |
Synonyms |
|
MMRRC Submission |
044828-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
86893909-87066451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 87061923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 124
(E124D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169849]
[ENSMUST00000189456]
[ENSMUST00000189775]
|
AlphaFold |
E9Q9Q5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169849
AA Change: E124D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000130852 Gene: ENSMUSG00000047129 AA Change: E124D
Domain | Start | End | E-Value | Type |
Pfam:DUF4607
|
71 |
325 |
2.1e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189456
|
SMART Domains |
Protein: ENSMUSP00000140447 Gene: ENSMUSG00000047129
Domain | Start | End | E-Value | Type |
Pfam:DUF4607
|
45 |
206 |
6.2e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189775
|
SMART Domains |
Protein: ENSMUSP00000141184 Gene: ENSMUSG00000047129
Domain | Start | End | E-Value | Type |
Pfam:DUF4607
|
6 |
160 |
6.8e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219879
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
probably damaging |
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 |
IGL01764:1700113H08Rik
|
APN |
10 |
86,909,910 (GRCm39) |
start codon destroyed |
probably benign |
0.02 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCTCTAAGTAGCTGGATCCATC -3'
(R):5'- CTCCCTTGGAGTTGACTAAGG -3'
Sequencing Primer
(F):5'- CAGGATCTATAGGAACTCATAGTCC -3'
(R):5'- ACTAAGGGATGGTTCTGAAGTG -3'
|
Posted On |
2018-07-24 |