Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03222:Ighv14-2'

413670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv14-2

Ensembl Gene

ENSMUSG00000095583

Gene Name

immunoglobulin heavy variable 14-2

Synonyms

Gm16683

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL03222

Quality Score

Status

Chromosome

Chromosomal Location

113958089-113958518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113958114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 109 (D109G)

Ref Sequence

ENSEMBL: ENSMUSP00000100248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103467]

AlphaFold

A0A075B5R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103467
AA Change: D109G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: D109G

Domain	Start	End	E-Value	Type
IGv	36	117	5.95e-29	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	A	G	X: 126,303,093 (GRCm39)	D344G	probably benign	Het
Aqr	A	T	2: 113,951,737 (GRCm39)	L877Q	probably damaging	Het
Ctr9	T	C	7: 110,642,257 (GRCm39)	Y328H	probably benign	Het
Ebf2	A	G	14: 67,649,441 (GRCm39)		probably null	Het
Ebpl	A	G	14: 61,579,682 (GRCm39)		probably benign	Het
Efcab5	A	T	11: 77,028,193 (GRCm39)	D515E	probably benign	Het
Gon4l	A	G	3: 88,802,950 (GRCm39)	N1187S	possibly damaging	Het
Hmces	A	G	6: 87,902,674 (GRCm39)	R172G	probably damaging	Het
Kcnn1	C	T	8: 71,300,843 (GRCm39)	R423H	probably damaging	Het
Muc13	T	C	16: 33,619,335 (GRCm39)	S28P	unknown	Het
Or5p70	A	T	7: 107,994,393 (GRCm39)	D22V	possibly damaging	Het
Or7e170	G	T	9: 19,795,495 (GRCm39)	Y35*	probably null	Het
Polg	T	C	7: 79,104,404 (GRCm39)	T824A	probably damaging	Het
Rapgef2	A	T	3: 78,995,302 (GRCm39)	V782D	probably damaging	Het
Rin2	T	A	2: 145,702,115 (GRCm39)	C270*	probably null	Het
Sdk2	C	A	11: 113,729,257 (GRCm39)	V1107L	probably benign	Het
Sema5a	T	A	15: 32,628,304 (GRCm39)	V539E	probably benign	Het
Tiam2	T	C	17: 3,488,983 (GRCm39)	S764P	probably damaging	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	probably damaging	Het
Ttn	T	C	2: 76,586,083 (GRCm39)	T21883A	probably damaging	Het
Xkr5	T	C	8: 18,987,315 (GRCm39)	T117A	probably damaging	Het
Xkr9	T	A	1: 13,771,505 (GRCm39)	Y340*	probably null	Het

Other mutations in Ighv14-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ighv14-2	APN	12	113,958,379 (GRCm39)	missense	possibly damaging	0.47
IGL01685:Ighv14-2	APN	12	113,958,121 (GRCm39)	missense	probably damaging	0.99
IGL02994:Ighv14-2	APN	12	113,958,211 (GRCm39)	missense	probably benign	0.10
R4537:Ighv14-2	UTSW	12	113,958,512 (GRCm39)	missense	probably benign	0.27
R6004:Ighv14-2	UTSW	12	113,958,255 (GRCm39)	missense	probably damaging	0.98
R6294:Ighv14-2	UTSW	12	113,958,218 (GRCm39)	missense	probably benign	0.01
R9538:Ighv14-2	UTSW	12	113,958,205 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02