Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Ighv12-3'

104295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv12-3

Ensembl Gene

ENSMUSG00000076676

Gene Name

immunoglobulin heavy variable V12-3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

114330146-114330439 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 114330573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000100266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103485]

AlphaFold

A0A075B5T1

Predicted Effect

probably null
Transcript: ENSMUST00000103485
AA Change: M1K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: M1K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGv	35	116	5.3e-26	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,031,214 (GRCm39)	D269G	probably benign	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,536,965 (GRCm39)	C252S	probably damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or13a17	T	C	7: 140,271,565 (GRCm39)	V249A	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Ttll3	T	C	6: 113,376,690 (GRCm39)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,593,114 (GRCm39)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	Het

Other mutations in Ighv12-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Ighv12-3	APN	12	114,330,421 (GRCm39)	missense	probably damaging	1.00
IGL02701:Ighv12-3	APN	12	114,330,421 (GRCm39)	missense	probably damaging	1.00
IGL02945:Ighv12-3	APN	12	114,330,337 (GRCm39)	missense	probably damaging	1.00
R5569:Ighv12-3	UTSW	12	114,330,555 (GRCm39)	missense	probably benign
R5952:Ighv12-3	UTSW	12	114,330,204 (GRCm39)	missense	probably benign	0.07
R6542:Ighv12-3	UTSW	12	114,330,435 (GRCm39)	missense	probably benign	0.41
R8962:Ighv12-3	UTSW	12	114,330,204 (GRCm39)	missense	probably benign	0.07
R9131:Ighv12-3	UTSW	12	114,330,546 (GRCm39)	missense	probably benign	0.40
R9335:Ighv12-3	UTSW	12	114,330,312 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21