Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Ighv8-6'

74112

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 #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

115129397-115129697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115129477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

Ref Sequence

ENSEMBL: ENSMUSP00000141906 (fasta)

Gene Model

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

AlphaFold

A0A075B5W4

Predicted Effect

probably benign
Transcript: ENSMUST00000103524
AA Change: D74G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100305
Gene: ENSMUSG00000094505
AA Change: D74G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193145
AA Change: D93G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141906
Gene: ENSMUSG00000094505
AA Change: D93G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,522,125 (GRCm39)	S108P	probably benign	Het
B3gat1	T	C	9: 26,667,206 (GRCm39)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,805,558 (GRCm39)	S45N	probably benign	Het
Birc6	C	T	17: 74,929,920 (GRCm39)	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,766,602 (GRCm39)	D67G	possibly damaging	Het
Cand2	A	G	6: 115,762,086 (GRCm39)	T171A	probably benign	Het
Ccdc77	T	C	6: 120,311,757 (GRCm39)	Q247R	probably benign	Het
Cenpp	A	T	13: 49,801,118 (GRCm39)	V100D	probably damaging	Het
Cep135	A	G	5: 76,739,612 (GRCm39)	T3A	probably benign	Het
Eef2k	T	C	7: 120,484,038 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,937,518 (GRCm39)	S132P	probably damaging	Het
Gpr6	T	A	10: 40,947,555 (GRCm39)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,546,009 (GRCm39)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,905,587 (GRCm39)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,413,819 (GRCm39)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,499,884 (GRCm39)		probably benign	Het
Izumo3	A	G	4: 92,034,627 (GRCm39)		probably benign	Het
Jade2	T	C	11: 51,716,165 (GRCm39)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,128,787 (GRCm39)	T419A	probably benign	Het
Krt34	A	G	11: 99,929,606 (GRCm39)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,828,716 (GRCm39)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,564,989 (GRCm39)	E42D	probably benign	Het
Morc2b	A	G	17: 33,356,293 (GRCm39)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,491,447 (GRCm39)	S557R	probably damaging	Het
Nup43	T	A	10: 7,545,320 (GRCm39)	F83I	probably benign	Het
Oosp2	A	G	19: 11,624,825 (GRCm39)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,717,031 (GRCm39)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,943,760 (GRCm39)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,089,498 (GRCm39)	F79I	possibly damaging	Het
Prph	G	A	15: 98,956,517 (GRCm39)	S465N	possibly damaging	Het
Purg	A	T	8: 33,876,631 (GRCm39)	I90L	probably damaging	Het
Pxdn	C	A	12: 30,037,136 (GRCm39)	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,144,280 (GRCm39)	S816N	probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,804,045 (GRCm39)		probably benign	Het
Tnfrsf22	G	A	7: 143,197,111 (GRCm39)	P76L	probably damaging	Het
Triml1	T	C	8: 43,591,600 (GRCm39)		probably null	Het
Upp1	A	G	11: 9,086,100 (GRCm39)	*312W	probably null	Het
Wdfy3	G	T	5: 102,042,930 (GRCm39)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,469,335 (GRCm39)	Y804C	probably damaging	Het
Xrn2	C	T	2: 146,876,767 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,945 (GRCm39)	D1275E	possibly 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
IGL02877:Ighv8-6	APN	12	115,129,700 (GRCm39)	missense	probably damaging	0.99
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

2013-10-07