Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00973:Ighv15-2'

306626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv15-2

Ensembl Gene

ENSMUSG00000076688

Gene Name

immunoglobulin heavy variable V15-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL00973

Quality Score

Status

Chromosome

Chromosomal Location

114528198-114528494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114528490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 20 (V20D)

Ref Sequence

ENSEMBL: ENSMUSP00000100278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103497] [ENSMUST00000195337]

AlphaFold

A0A075B5T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103497
AA Change: V20D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100278
Gene: ENSMUSG00000076688
AA Change: V20D

Domain	Start	End	E-Value	Type
IGv	35	117	3.29e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195337
AA Change: V21D

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141867
Gene: ENSMUSG00000076688
AA Change: V21D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	118	1.3e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,457,218 (GRCm39)	D906Y	probably damaging	Het
Cdh18	A	G	15: 23,173,882 (GRCm39)	K32R	probably damaging	Het
Chtf18	G	A	17: 25,941,090 (GRCm39)	A636V	probably benign	Het
Clcn6	A	G	4: 148,098,245 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,758 (GRCm39)	K374Q	possibly damaging	Het
Ehmt2	C	T	17: 35,129,791 (GRCm39)	R962C	probably damaging	Het
Frrs1l	T	C	4: 56,972,369 (GRCm39)	K111E	probably damaging	Het
Galnt5	A	G	2: 57,888,951 (GRCm39)	T184A	probably benign	Het
Glud1	C	T	14: 34,041,899 (GRCm39)	T169I	probably damaging	Het
Hinfp	T	G	9: 44,209,436 (GRCm39)	D283A	probably benign	Het
Hmcn2	C	T	2: 31,273,833 (GRCm39)		probably benign	Het
Hs6st3	A	T	14: 120,106,819 (GRCm39)	Y409F	possibly damaging	Het
Kif17	A	G	4: 138,002,368 (GRCm39)	T91A	probably benign	Het
Mical3	T	C	6: 120,911,885 (GRCm39)		probably benign	Het
Myo1e	C	T	9: 70,246,069 (GRCm39)	T420M	probably damaging	Het
Or8b12c	C	A	9: 37,716,078 (GRCm39)	S290R	probably damaging	Het
Ovgp1	T	A	3: 105,888,593 (GRCm39)	Y316*	probably null	Het
Plekha1	T	A	7: 130,512,743 (GRCm39)	V313D	probably damaging	Het
Polr1e	C	A	4: 45,031,364 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,367 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,669,101 (GRCm39)	M250L	probably benign	Het
Rtn1	A	T	12: 72,455,285 (GRCm39)	L14Q	probably benign	Het
Sec24a	T	C	11: 51,620,404 (GRCm39)		probably null	Het
Sox7	A	G	14: 64,185,636 (GRCm39)	H224R	probably benign	Het
Styxl2	T	C	1: 165,927,027 (GRCm39)	S862G	probably benign	Het
Sucla2	T	C	14: 73,828,347 (GRCm39)	I318T	possibly damaging	Het
Tubb4b-ps1	A	G	5: 7,229,408 (GRCm39)		probably benign	Het
Ube2o	T	A	11: 116,432,031 (GRCm39)	K940M	probably damaging	Het
Usp20	A	C	2: 30,894,962 (GRCm39)	N149T	probably damaging	Het
Utp6	C	T	11: 79,846,531 (GRCm39)	W150*	probably null	Het
Wdr27	A	C	17: 15,134,140 (GRCm39)	H475Q	probably benign	Het

Other mutations in Ighv15-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Ighv15-2	APN	12	114,528,341 (GRCm39)	missense	probably damaging	1.00
R0134:Ighv15-2	UTSW	12	114,528,657 (GRCm39)	unclassified	probably benign
R0225:Ighv15-2	UTSW	12	114,528,657 (GRCm39)	unclassified	probably benign
R4580:Ighv15-2	UTSW	12	114,528,590 (GRCm39)	missense	probably benign	0.21
R4745:Ighv15-2	UTSW	12	114,528,230 (GRCm39)	missense	probably damaging	1.00
R4781:Ighv15-2	UTSW	12	114,528,476 (GRCm39)	missense	probably damaging	1.00
R7153:Ighv15-2	UTSW	12	114,528,210 (GRCm39)	nonsense	probably null
R7976:Ighv15-2	UTSW	12	114,528,470 (GRCm39)	missense	probably benign	0.01
Z1088:Ighv15-2	UTSW	12	114,528,424 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16