Mutagenetix > Incidental Mutation

Incidental Mutation 'R1354:Ighv8-6'

262755

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-6

Ensembl Gene

ENSMUSG00000094505

Gene Name

immunoglobulin heavy variable V8-6

Synonyms

MMRRC Submission

039419-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1354 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115129397-115129697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115129700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 19 (S19T)

Ref Sequence

ENSEMBL: ENSMUSP00000141906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103524] [ENSMUST00000193145]

AlphaFold

A0A075B5W4

Predicted Effect

probably benign
Transcript: ENSMUST00000103524

SMART Domains

Protein: ENSMUSP00000100305
Gene: ENSMUSG00000094505

Domain	Start	End	E-Value	Type
IGv	17	99	1.25e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193145
AA Change: S19T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141906
Gene: ENSMUSG00000094505
AA Change: S19T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	118	5.2e-25	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atoh1	A	G	6: 64,706,341 (GRCm39)	E12G	possibly damaging	Het
Ccdc183	T	C	2: 25,502,151 (GRCm39)	N241S	probably benign	Het
Cmya5	G	A	13: 93,228,566 (GRCm39)	T2174I	possibly damaging	Het
Edem1	A	G	6: 108,831,277 (GRCm39)	I579M	possibly damaging	Het
Gimap9	A	T	6: 48,654,982 (GRCm39)	M190L	probably benign	Het
Glod4	A	T	11: 76,128,654 (GRCm39)		probably null	Het
Lef1	C	T	3: 130,988,317 (GRCm39)	P267S	probably damaging	Het
Megf11	A	G	9: 64,560,459 (GRCm39)	E335G	probably benign	Het
Muc5ac	A	G	7: 141,361,114 (GRCm39)	N1475S	probably damaging	Het
Ndst2	C	A	14: 20,775,043 (GRCm39)	R749L	possibly damaging	Het
Oas3	C	A	5: 120,908,065 (GRCm39)	V292L	possibly damaging	Het
Phactr1	A	T	13: 43,210,807 (GRCm39)	I210F	possibly damaging	Het
Plppr5	G	A	3: 117,369,496 (GRCm39)	R51H	possibly damaging	Het
Ppp1r12b	G	A	1: 134,763,721 (GRCm39)	T771M	probably benign	Het
Rasgrf2	G	A	13: 92,165,174 (GRCm39)	P331S	probably damaging	Het
Rtl6	C	T	15: 84,440,728 (GRCm39)	V223M	probably damaging	Het
Tbc1d9	A	C	8: 83,995,610 (GRCm39)		probably null	Het
Tgm3	T	C	2: 129,883,818 (GRCm39)	I492T	probably benign	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Wdr45b	A	T	11: 121,226,256 (GRCm39)	I191N	probably damaging	Het

Other mutations in Ighv8-6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ighv8-6	APN	12	115,129,472 (GRCm39)	missense	probably damaging	0.96
IGL01323:Ighv8-6	APN	12	115,129,477 (GRCm39)	missense	possibly damaging	0.54
IGL02877:Ighv8-6	APN	12	115,129,700 (GRCm39)	missense	probably damaging	0.99
R3159:Ighv8-6	UTSW	12	115,129,508 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2015-02-04