Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03358:4930590J08Rik'

420013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03358

Quality Score

Status

Chromosome

Chromosomal Location

91902809-91950725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91928735 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 496 (N496D)

Ref Sequence

ENSEMBL: ENSMUSP00000146101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]

Predicted Effect

probably damaging
Transcript: ENSMUST00000059318
AA Change: N496D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: N496D

Domain	Start	End	E-Value	Type
low complexity region	89	109	N/A	INTRINSIC
Pfam:FAM194	357	561	4.1e-68	PFAM
low complexity region	626	637	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205686
AA Change: N496D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	T	C	16: 64,766,546	I272V	possibly damaging	Het
Adcy2	C	T	13: 68,729,277	G448E	probably damaging	Het
Alad	G	A	4: 62,510,607		probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Appbp2	A	T	11: 85,210,034	M193K	probably benign	Het
Cd300a	G	A	11: 114,897,797	M204I	possibly damaging	Het
Cep350	T	A	1: 155,928,539	M933L	probably benign	Het
Cyp2s1	T	A	7: 25,808,148	N292I	probably damaging	Het
Ddx58	T	C	4: 40,206,069	E841G	possibly damaging	Het
Gnl2	T	C	4: 125,052,594	I536T	probably damaging	Het
Ift140	C	T	17: 25,087,984	R898C	probably damaging	Het
Oosp2	A	T	19: 11,651,569	L56*	probably null	Het
Pars2	A	T	4: 106,653,042	H7L	probably benign	Het
Pbx4	T	C	8: 69,859,111	S59P	probably benign	Het
Psg20	G	T	7: 18,680,966	H332N	probably benign	Het
Slc6a13	G	A	6: 121,334,536	V384I	probably benign	Het
Spg21	G	A	9: 65,480,416	V164I	probably benign	Het
Tnc	A	T	4: 64,017,615	C361*	probably null	Het
Tsr1	T	C	11: 74,903,998	V493A	probably benign	Het
Ube2u	A	G	4: 100,547,275		probably benign	Het
Vav3	G	A	3: 109,647,673	G79E	probably damaging	Het
Vmn1r81	T	G	7: 12,260,305	R125S	possibly damaging	Het
Vmn2r45	A	C	7: 8,471,716	L771R	probably damaging	Het
Vps54	T	A	11: 21,268,799	H119Q	probably damaging	Het

Other mutations in 4930590J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:4930590J08Rik	APN	6	91919118	missense	possibly damaging	0.74
IGL01478:4930590J08Rik	APN	6	91934609	missense	probably benign	0.01
IGL01481:4930590J08Rik	APN	6	91933098	missense	probably damaging	1.00
IGL01485:4930590J08Rik	APN	6	91950022	missense	probably damaging	0.96
IGL01794:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL01795:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL02040:4930590J08Rik	APN	6	91918110	missense	probably benign
IGL02171:4930590J08Rik	APN	6	91944256	missense	probably benign	0.01
IGL02968:4930590J08Rik	APN	6	91923473	missense	probably damaging	1.00
PIT4519001:4930590J08Rik	UTSW	6	91917057	missense	probably damaging	1.00
R0531:4930590J08Rik	UTSW	6	91915146	missense	probably benign
R0569:4930590J08Rik	UTSW	6	91942578	nonsense	probably null
R1536:4930590J08Rik	UTSW	6	91917035	missense	probably benign	0.20
R1730:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1758:4930590J08Rik	UTSW	6	91915222	missense	possibly damaging	0.79
R1783:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1911:4930590J08Rik	UTSW	6	91950069	splice site	probably benign
R1930:4930590J08Rik	UTSW	6	91915021	missense	probably benign	0.01
R1936:4930590J08Rik	UTSW	6	91917080	missense	possibly damaging	0.90
R2157:4930590J08Rik	UTSW	6	91917698	splice site	probably null
R2157:4930590J08Rik	UTSW	6	91942487	missense	possibly damaging	0.48
R4072:4930590J08Rik	UTSW	6	91945361	splice site	probably null
R4662:4930590J08Rik	UTSW	6	91914958	missense	probably benign
R4900:4930590J08Rik	UTSW	6	91918110	missense	probably benign
R4936:4930590J08Rik	UTSW	6	91944264	missense	probably damaging	1.00
R5394:4930590J08Rik	UTSW	6	91919193	missense	probably benign	0.00
R5887:4930590J08Rik	UTSW	6	91915143	nonsense	probably null
R5931:4930590J08Rik	UTSW	6	91919115	missense	probably damaging	1.00
R6174:4930590J08Rik	UTSW	6	91942536	missense	probably damaging	0.99
R6179:4930590J08Rik	UTSW	6	91942330	missense	probably damaging	0.96
R6380:4930590J08Rik	UTSW	6	91923137	missense	probably damaging	1.00
R6531:4930590J08Rik	UTSW	6	91949999	missense	possibly damaging	0.88
R7570:4930590J08Rik	UTSW	6	91934610	missense	probably benign	0.03
R7860:4930590J08Rik	UTSW	6	91928726	missense	probably damaging	1.00
R7936:4930590J08Rik	UTSW	6	91923464	nonsense	probably null
R7958:4930590J08Rik	UTSW	6	91934483	missense	probably benign	0.02
R7968:4930590J08Rik	UTSW	6	91945460	missense
R8111:4930590J08Rik	UTSW	6	91917710	missense	probably benign

Posted On

2016-08-02