Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:4930447A16Rik'

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301656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930447A16Rik

Ensembl Gene

ENSMUSG00000022288

Gene Name

RIKEN cDNA 4930447A16 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

37425554-37440644 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 37429804 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 71 (R71*)

Ref Sequence

ENSEMBL: ENSMUSP00000022897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000168992] [ENSMUST00000153775] [ENSMUST00000148652] [ENSMUST00000150453]

Predicted Effect

probably null
Transcript: ENSMUST00000022897
AA Change: R71*

Predicted Effect

probably benign
Transcript: ENSMUST00000090150

SMART Domains

Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116445

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119730

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120746

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151356

Predicted Effect

probably benign
Transcript: ENSMUST00000168992

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153775

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	174	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148652

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
Pfam:EF-hand_5	149	163	1.2e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150453

SMART Domains

Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	3	88	3.9e-8	PFAM
Pfam:EF-hand_8	39	88	8.2e-8	PFAM
Pfam:EF-hand_1	64	88	5e-8	PFAM
Pfam:EF-hand_6	64	88	1.6e-6	PFAM
Pfam:EF-hand_5	65	86	2.5e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in 4930447A16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02163:4930447A16Rik	APN	15	37439608	intron	probably benign
R0569:4930447A16Rik	UTSW	15	37425619	start codon destroyed	probably null
R1596:4930447A16Rik	UTSW	15	37425774	intron	probably benign
R1728:4930447A16Rik	UTSW	15	37439600	intron	probably benign
R1729:4930447A16Rik	UTSW	15	37439600	intron	probably benign
R1967:4930447A16Rik	UTSW	15	37439598	intron	probably benign
R2018:4930447A16Rik	UTSW	15	37440498	intron	probably benign
R4811:4930447A16Rik	UTSW	15	37425708	intron	probably benign
R5760:4930447A16Rik	UTSW	15	37439591	intron	probably benign
R6572:4930447A16Rik	UTSW	15	37425717	nonsense	probably null
R6604:4930447A16Rik	UTSW	15	37439579	intron	probably benign
R8544:4930447A16Rik	UTSW	15	37425735	intron	probably benign

Posted On

2015-04-16