Mutagenetix > Incidental Mutation

Incidental Mutation 'R3008:Ighv7-1'

477381

Institutional Source

Beutler Lab

Gene Symbol

Ighv7-1

Ensembl Gene

ENSMUSG00000076665

Gene Name

immunoglobulin heavy variable 7-1

Synonyms

Gm16698

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R3008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113860028-113860566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113860071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 107 (L107Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103474]

AlphaFold

A0A075B5S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103474
AA Change: L107Q

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

SMART Domains

Protein: ENSMUSP00000100255
Gene: ENSMUSG00000076665
AA Change: L107Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	119	6.1e-35	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,652,930 (GRCm39)	L123P	possibly damaging	Het
Acap3	T	C	4: 155,990,139 (GRCm39)	I773T	probably benign	Het
Atm	A	C	9: 53,392,050 (GRCm39)	F1780V	probably benign	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Cldn19	T	G	4: 119,112,987 (GRCm39)	L73R	probably damaging	Het
Cntnap5c	A	G	17: 58,666,204 (GRCm39)	Y1078C	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Gm10277	T	A	11: 77,676,362 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,966,627 (GRCm39)	D285E	probably damaging	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Ighv1-85	A	T	12: 115,963,704 (GRCm39)	Y99N	probably damaging	Het
Kif17	A	G	4: 138,005,476 (GRCm39)	D347G	probably damaging	Het
Med22	T	C	2: 26,798,396 (GRCm39)		probably benign	Het
Mme	T	A	3: 63,266,378 (GRCm39)	N551K	probably damaging	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Muc2	A	T	7: 141,281,347 (GRCm39)	H475L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or8s10	G	A	15: 98,335,857 (GRCm39)	C169Y	probably damaging	Het
Pdp2	T	A	8: 105,320,898 (GRCm39)	I249N	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc26a9	G	T	1: 131,693,652 (GRCm39)	G714V	probably damaging	Het
Tarbp1	G	A	8: 127,174,160 (GRCm39)	T882I	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Ubr5	A	G	15: 38,031,089 (GRCm39)	S398P	probably benign	Het

Other mutations in Ighv7-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Ighv7-1	APN	12	113,860,123 (GRCm39)	missense	possibly damaging	0.78
IGL03006:Ighv7-1	APN	12	113,860,145 (GRCm39)	missense	probably damaging	1.00
IGL03051:Ighv7-1	APN	12	113,860,576 (GRCm39)	unclassified	probably benign
IGL03281:Ighv7-1	APN	12	113,860,571 (GRCm39)	unclassified	probably benign
R5754:Ighv7-1	UTSW	12	113,860,239 (GRCm39)	missense	probably damaging	0.99
R6172:Ighv7-1	UTSW	12	113,860,183 (GRCm39)	missense	probably damaging	0.99
R6213:Ighv7-1	UTSW	12	113,860,141 (GRCm39)	missense	probably damaging	0.99
R7324:Ighv7-1	UTSW	12	113,860,149 (GRCm39)	missense	probably damaging	1.00
R8399:Ighv7-1	UTSW	12	113,860,532 (GRCm39)	missense	unknown
R9193:Ighv7-1	UTSW	12	113,860,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15