Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Ighv2-7'

16446

Institutional Source

Beutler Lab

Gene Symbol

Ighv2-7

Ensembl Gene

ENSMUSG00000096824

Gene Name

immunoglobulin heavy variable 2-7

Synonyms

Gm16597

MMRRC Submission

038390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R0104 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

113770934-113771367 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113771088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 66 (W66R)

Ref Sequence

ENSEMBL: ENSMUSP00000100237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103456]

AlphaFold

A0A075B5Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000103456
AA Change: W66R

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

SMART Domains

Protein: ENSMUSP00000100237
Gene: ENSMUSG00000096824
AA Change: W66R

Domain	Start	End	E-Value	Type
IGv	36	116	8.88e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195089

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 75.5%
3x: 52.6%
10x: 7.5%
20x: 3.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,469 (GRCm39)	A28S	probably damaging	Het
Arhgap5	A	T	12: 52,563,500 (GRCm39)	D157V	probably damaging	Het
Cfap54	G	T	10: 92,864,514 (GRCm39)	H142N	probably damaging	Het
Dpp10	A	T	1: 123,295,572 (GRCm39)	M525K	probably benign	Het
Fsip2	A	T	2: 82,809,317 (GRCm39)	T1879S	possibly damaging	Het
Gm14129	T	C	2: 148,773,493 (GRCm39)		noncoding transcript	Het
Kif11	T	A	19: 37,401,663 (GRCm39)	V880D	probably benign	Het
Mcpt1	T	A	14: 56,256,888 (GRCm39)	M142K	possibly damaging	Het
Mlst8	T	C	17: 24,695,091 (GRCm39)	N264S	possibly damaging	Het
Nmrk1	T	A	19: 18,618,582 (GRCm39)	S88R	probably benign	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or8d23	A	G	9: 38,842,261 (GRCm39)	S265G	possibly damaging	Het
Rtn1	A	T	12: 72,355,619 (GRCm39)	I109N	probably damaging	Het
Slc15a2	T	A	16: 36,594,997 (GRCm39)	L156F	possibly damaging	Het
Slc22a21	A	C	11: 53,842,635 (GRCm39)	M498R	probably null	Het
Ssc5d	T	C	7: 4,939,285 (GRCm39)	S574P	probably benign	Het
Taf2	T	C	15: 54,901,734 (GRCm39)	D820G	probably benign	Het
Tas2r135	A	T	6: 42,383,258 (GRCm39)	I266F	possibly damaging	Het
Trgv4	C	T	13: 19,369,480 (GRCm39)	H75Y	probably damaging	Het
Vil1	A	G	1: 74,457,525 (GRCm39)	K53E	probably benign	Het
Zfc3h1	T	A	10: 115,251,192 (GRCm39)	M1261K	possibly damaging	Het
Zfp655	T	C	5: 145,180,825 (GRCm39)	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,575,360 (GRCm39)	D574Y	probably damaging	Het

Other mutations in Ighv2-7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4805:Ighv2-7	UTSW	12	113,771,154 (GRCm39)	missense	probably damaging	1.00
R6177:Ighv2-7	UTSW	12	113,771,055 (GRCm39)	missense	possibly damaging	0.68
R9338:Ighv2-7	UTSW	12	113,771,118 (GRCm39)	missense	probably benign	0.00

Posted On

2013-01-20