Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02101:Ighv7-3'

279739

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv7-3

Ensembl Gene

ENSMUSG00000076652

Gene Name

immunoglobulin heavy variable 7-3

Synonyms

Gm16842

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02101

Quality Score

Status

Chromosome

Chromosomal Location

114116800-114117264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114117045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 39 (L39P)

Ref Sequence

ENSEMBL: ENSMUSP00000100242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103461]

AlphaFold

A0A075B5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103461
AA Change: L39P

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

SMART Domains

Protein: ENSMUSP00000100242
Gene: ENSMUSG00000076652
AA Change: L39P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	119	3.3e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194450

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd163	T	A	6: 124,284,246 (GRCm39)	C139*	probably null	Het
Ces2g	A	G	8: 105,691,769 (GRCm39)		probably null	Het
Ckap5	T	C	2: 91,402,885 (GRCm39)		probably benign	Het
Cmtm7	T	C	9: 114,592,336 (GRCm39)	H87R	probably damaging	Het
Dennd3	A	G	15: 73,399,794 (GRCm39)	D220G	possibly damaging	Het
Dpp10	T	C	1: 123,339,555 (GRCm39)	Y324C	probably damaging	Het
Dsc3	C	T	18: 20,134,963 (GRCm39)	R7Q	probably benign	Het
Ezh1	T	C	11: 101,086,392 (GRCm39)	K598E	possibly damaging	Het
Il1rap	T	A	16: 26,442,932 (GRCm39)	S9R	possibly damaging	Het
Mrgpra3	A	G	7: 47,239,300 (GRCm39)	C209R	probably damaging	Het
Oc90	G	T	15: 65,769,638 (GRCm39)	P73Q	probably damaging	Het
Or2m12	T	C	16: 19,105,363 (GRCm39)	I43M	probably benign	Het
Or3a1b	G	A	11: 74,012,571 (GRCm39)	W152*	probably null	Het
Pccb	A	G	9: 100,869,894 (GRCm39)	F346L	possibly damaging	Het
Pdxdc1	A	G	16: 13,687,720 (GRCm39)	I225T	probably damaging	Het
Pold3	A	T	7: 99,749,703 (GRCm39)	M154K	probably damaging	Het
Polr1a	T	G	6: 71,927,786 (GRCm39)	C846G	probably benign	Het
Ppip5k1	C	A	2: 121,162,089 (GRCm39)	R978L	possibly damaging	Het
Ptpn4	A	G	1: 119,615,408 (GRCm39)	V582A	probably damaging	Het
Sez6l	G	T	5: 112,620,612 (GRCm39)	Q323K	probably damaging	Het
Slc27a5	A	T	7: 12,727,270 (GRCm39)	I384N	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc7a2	T	C	8: 41,355,631 (GRCm39)	F227L	probably benign	Het
Smad4	C	A	18: 73,791,723 (GRCm39)	A273S	probably benign	Het
Spata17	T	C	1: 186,849,657 (GRCm39)	I84V	probably benign	Het
Sphkap	T	C	1: 83,268,708 (GRCm39)	T95A	probably damaging	Het
Tie1	T	C	4: 118,329,995 (GRCm39)	D1076G	probably benign	Het

Other mutations in Ighv7-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02691:Ighv7-3	APN	12	114,117,016 (GRCm39)	missense	probably benign	0.00
R3418:Ighv7-3	UTSW	12	114,116,919 (GRCm39)	missense	probably damaging	1.00
R5049:Ighv7-3	UTSW	12	114,116,953 (GRCm39)	missense	probably benign	0.22
R7288:Ighv7-3	UTSW	12	114,116,963 (GRCm39)	nonsense	probably null
R7576:Ighv7-3	UTSW	12	114,116,865 (GRCm39)	missense	possibly damaging	0.75
R7763:Ighv7-3	UTSW	12	114,116,827 (GRCm39)	missense	probably damaging	1.00
R9741:Ighv7-3	UTSW	12	114,116,995 (GRCm39)	missense	probably benign	0.00
Z1177:Ighv7-3	UTSW	12	114,116,908 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16