Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02655:4930402F06Rik'

302304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930402F06Rik

Ensembl Gene

ENSMUSG00000079421

Gene Name

RIKEN cDNA 4930402F06 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02655

Quality Score

Status

Chromosome

Chromosomal Location

35265574-35287187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35270498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 68 (S68T)

Ref Sequence

ENSEMBL: ENSMUSP00000108633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113009] [ENSMUST00000113010]

AlphaFold

A2AUQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000113009
AA Change: S37T

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: S37T

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	4	299	4.7e-130	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113010
AA Change: S68T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: S68T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Glyco_transf_6	37	330	1.2e-124	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	G	6: 65,930,074 (GRCm39)	V103G	probably damaging	Het
Adam7	A	T	14: 68,754,060 (GRCm39)	D346E	probably damaging	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Adamtsl2	T	C	2: 26,972,542 (GRCm39)		probably benign	Het
Adgrb2	C	A	4: 129,885,972 (GRCm39)	Y37*	probably null	Het
Apba3	A	G	10: 81,108,788 (GRCm39)	R547G	probably benign	Het
Ccnd2	C	T	6: 127,125,733 (GRCm39)	G101D	probably damaging	Het
Cpm	A	G	10: 117,519,186 (GRCm39)	T365A	probably benign	Het
Cpt2	A	G	4: 107,764,624 (GRCm39)	V380A	probably damaging	Het
Dnah7b	A	T	1: 46,155,461 (GRCm39)		probably benign	Het
Enpp1	A	C	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Ermp1	C	A	19: 29,623,610 (GRCm39)	E127*	probably null	Het
Evi5	T	C	5: 107,961,446 (GRCm39)	K375R	probably benign	Het
Gm11564	A	T	11: 99,705,982 (GRCm39)	C149*	probably null	Het
Golgb1	A	T	16: 36,738,442 (GRCm39)	E2260D	probably damaging	Het
Gpc2	T	C	5: 138,277,187 (GRCm39)	D80G	possibly damaging	Het
Hsd11b2	A	G	8: 106,248,960 (GRCm39)	I151V	probably benign	Het
Knl1	T	C	2: 118,901,473 (GRCm39)	I1058T	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,454 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,536,780 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,315,748 (GRCm39)	R38H	probably damaging	Het
Nsmaf	A	G	4: 6,424,933 (GRCm39)	F272L	possibly damaging	Het
Pcyox1	A	T	6: 86,366,326 (GRCm39)	V78E	probably damaging	Het
Pkp1	G	T	1: 135,817,511 (GRCm39)	T208N	probably benign	Het
Plagl2	T	C	2: 153,074,337 (GRCm39)	E188G	probably damaging	Het
Pramel15	A	G	4: 144,099,416 (GRCm39)	F450L	probably benign	Het
Relch	G	A	1: 105,605,971 (GRCm39)	V204M	probably damaging	Het
Ric1	T	A	19: 29,572,851 (GRCm39)	S764T	probably damaging	Het
Sec24a	G	A	11: 51,625,482 (GRCm39)	T247M	probably benign	Het
Slc25a17	C	T	15: 81,207,844 (GRCm39)	R248Q	probably benign	Het
Stk36	C	T	1: 74,673,694 (GRCm39)	P1068S	probably damaging	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Tfec	C	T	6: 16,834,308 (GRCm39)	A200T	possibly damaging	Het
Vmn2r4	A	G	3: 64,305,886 (GRCm39)	I512T	probably damaging	Het

Other mutations in 4930402F06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:4930402F06Rik	APN	2	35,265,851 (GRCm39)	missense	probably benign	0.05
IGL00805:4930402F06Rik	APN	2	35,270,422 (GRCm39)	missense	probably damaging	1.00
IGL01647:4930402F06Rik	APN	2	35,266,097 (GRCm39)	missense	probably damaging	1.00
IGL01927:4930402F06Rik	APN	2	35,266,026 (GRCm39)	missense	probably damaging	1.00
IGL02315:4930402F06Rik	APN	2	35,266,185 (GRCm39)	missense	probably damaging	1.00
IGL02563:4930402F06Rik	APN	2	35,270,410 (GRCm39)	missense	probably damaging	1.00
IGL03341:4930402F06Rik	APN	2	35,265,906 (GRCm39)	missense	possibly damaging	0.76
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0309:4930402F06Rik	UTSW	2	35,266,271 (GRCm39)	missense	possibly damaging	0.90
R0556:4930402F06Rik	UTSW	2	35,280,482 (GRCm39)	splice site	probably benign
R2089:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2158:4930402F06Rik	UTSW	2	35,275,680 (GRCm39)	missense	possibly damaging	0.94
R4027:4930402F06Rik	UTSW	2	35,270,408 (GRCm39)	missense	probably damaging	1.00
R4897:4930402F06Rik	UTSW	2	35,266,309 (GRCm39)	missense	probably damaging	1.00
R7755:4930402F06Rik	UTSW	2	35,266,349 (GRCm39)	missense	probably damaging	1.00
R8129:4930402F06Rik	UTSW	2	35,266,187 (GRCm39)	missense	probably damaging	1.00
R8143:4930402F06Rik	UTSW	2	35,265,884 (GRCm39)	missense	probably damaging	1.00
R8309:4930402F06Rik	UTSW	2	35,279,599 (GRCm39)	missense	possibly damaging	0.67
R8550:4930402F06Rik	UTSW	2	35,265,786 (GRCm39)	nonsense	probably null
X0024:4930402F06Rik	UTSW	2	35,279,617 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16