Incidental Mutation 'R1376:5730455P16Rik'
ID |
162893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5730455P16Rik
|
Ensembl Gene |
ENSMUSG00000057181 |
Gene Name |
RIKEN cDNA 5730455P16 gene |
Synonyms |
|
MMRRC Submission |
039440-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.833)
|
Stock # |
R1376 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
80251318-80268860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80254735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 362
(I362N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103225]
[ENSMUST00000179332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103225
AA Change: I362N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099515 Gene: ENSMUSG00000057181 AA Change: I362N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
Pfam:Njmu-R1
|
38 |
390 |
1.5e-204 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149614
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179332
AA Change: I362N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135972 Gene: ENSMUSG00000057181 AA Change: I362N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
Pfam:Njmu-R1
|
38 |
391 |
5.9e-231 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 96.7%
- 10x: 90.4%
- 20x: 75.5%
|
Validation Efficiency |
100% (3/3) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 5730455P16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:5730455P16Rik
|
APN |
11 |
80,267,638 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03096:5730455P16Rik
|
APN |
11 |
80,265,005 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4431001:5730455P16Rik
|
UTSW |
11 |
80,254,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:5730455P16Rik
|
UTSW |
11 |
80,254,767 (GRCm39) |
nonsense |
probably null |
|
R0635:5730455P16Rik
|
UTSW |
11 |
80,264,891 (GRCm39) |
splice site |
probably benign |
|
R1376:5730455P16Rik
|
UTSW |
11 |
80,254,735 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1598:5730455P16Rik
|
UTSW |
11 |
80,254,838 (GRCm39) |
nonsense |
probably null |
|
R1953:5730455P16Rik
|
UTSW |
11 |
80,268,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:5730455P16Rik
|
UTSW |
11 |
80,258,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4056:5730455P16Rik
|
UTSW |
11 |
80,266,329 (GRCm39) |
splice site |
probably benign |
|
R4612:5730455P16Rik
|
UTSW |
11 |
80,268,806 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
R4777:5730455P16Rik
|
UTSW |
11 |
80,265,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4820:5730455P16Rik
|
UTSW |
11 |
80,266,346 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4847:5730455P16Rik
|
UTSW |
11 |
80,264,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R5489:5730455P16Rik
|
UTSW |
11 |
80,268,778 (GRCm39) |
start codon destroyed |
probably null |
|
R7125:5730455P16Rik
|
UTSW |
11 |
80,255,751 (GRCm39) |
missense |
probably damaging |
0.97 |
R8049:5730455P16Rik
|
UTSW |
11 |
80,268,798 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9600:5730455P16Rik
|
UTSW |
11 |
80,261,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTCATCTTAGGGCAGTGCAATC -3'
(R):5'- GCCGACATTATCAGTGTCCGATGAG -3'
Sequencing Primer
(F):5'- CTTAGGGCAGTGCAATCCTATAAAC -3'
(R):5'- AGCTAGAGACGGGGTATTTTTCAAG -3'
|
Posted On |
2014-03-17 |