Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02877:Ighv8-6'

362684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv8-6

Ensembl Gene

ENSMUSG00000094505

Gene Name

immunoglobulin heavy variable V8-6

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02877

Quality Score

Status

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,078,875 (GRCm39)	Y712*	probably null	Het
Adcy5	A	G	16: 35,118,970 (GRCm39)	D1107G	probably damaging	Het
Ankhd1	C	A	18: 36,727,876 (GRCm39)	T504K	probably damaging	Het
Asb18	C	T	1: 89,880,533 (GRCm39)	C160Y	possibly damaging	Het
Capn13	A	G	17: 73,629,050 (GRCm39)	S586P	probably damaging	Het
Cdhr2	A	T	13: 54,882,550 (GRCm39)	T1199S	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cnot8	A	G	11: 58,002,228 (GRCm39)	E87G	probably benign	Het
Crnkl1	C	A	2: 145,762,591 (GRCm39)	E525*	probably null	Het
Eif2d	T	C	1: 131,092,854 (GRCm39)		probably benign	Het
Flywch1	A	G	17: 23,979,388 (GRCm39)	S416P	probably damaging	Het
Glcci1	T	C	6: 8,582,757 (GRCm39)	S373P	probably damaging	Het
Gli3	A	G	13: 15,899,327 (GRCm39)	R905G	probably damaging	Het
Hcn4	T	C	9: 58,766,450 (GRCm39)	V706A	unknown	Het
Ift74	T	C	4: 94,513,018 (GRCm39)		probably null	Het
Knl1	T	A	2: 118,919,312 (GRCm39)	N1821K	probably benign	Het
Msx1	G	A	5: 37,981,344 (GRCm39)	P112S	possibly damaging	Het
Nes	A	G	3: 87,882,968 (GRCm39)	D409G	probably benign	Het
Nsmf	A	T	2: 24,945,968 (GRCm39)	I152F	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,867 (GRCm39)	I322N	probably damaging	Het
Or7g27	T	C	9: 19,250,497 (GRCm39)	V247A	possibly damaging	Het
Pnpla8	A	G	12: 44,330,248 (GRCm39)	T49A	probably benign	Het
Ptx3	A	G	3: 66,132,196 (GRCm39)	Y239C	probably damaging	Het
Rarg	G	T	15: 102,150,374 (GRCm39)		probably null	Het
Slc33a1	G	A	3: 63,850,806 (GRCm39)	T506I	probably benign	Het
Spem2	T	G	11: 69,708,521 (GRCm39)	H148P	probably benign	Het
Trim24	A	G	6: 37,942,581 (GRCm39)	D961G	probably damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	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
R1354:Ighv8-6	UTSW	12	115,129,700 (GRCm39)	missense	probably damaging	0.99
R3159:Ighv8-6	UTSW	12	115,129,508 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-12-18