Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02620:Ighv2-2'

300814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv2-2

Ensembl Gene

ENSMUSG00000096464

Gene Name

immunoglobulin heavy variable 2-2

Synonyms

Gm16970

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

IGL02620

Quality Score

Status

Chromosome

Chromosomal Location

113588267-113588702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113588292 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 109 (T109S)

Ref Sequence

ENSEMBL: ENSMUSP00000100224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103443]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103443
AA Change: T109S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100224
Gene: ENSMUSG00000096464
AA Change: T109S

Domain	Start	End	E-Value	Type
IGv	36	116	3.92e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195336

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,211,625	V322I	probably benign	Het
4932438A13Rik	T	C	3: 37,035,945	V4174A	possibly damaging	Het
Abcc12	A	T	8: 86,505,314		probably null	Het
Ccdc150	T	A	1: 54,263,545	L108*	probably null	Het
Cdon	C	T	9: 35,452,799	T71I	probably benign	Het
Chdh	T	C	14: 30,031,139	W2R	probably damaging	Het
Ckap5	T	G	2: 91,606,369	L1605V	probably benign	Het
Cluh	C	T	11: 74,665,067	Q819*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cwc27	C	A	13: 104,802,206		probably benign	Het
Elk4	C	A	1: 132,018,371	A329D	probably benign	Het
Fbxo40	T	C	16: 36,966,080	H709R	probably benign	Het
Flna	A	G	X: 74,229,976		probably benign	Het
Gm20390	G	T	11: 93,952,856	R173S	possibly damaging	Het
Grip2	G	T	6: 91,778,606	D592E	possibly damaging	Het
H2-T24	T	G	17: 36,017,291	N100T	probably damaging	Het
Hepacam2	C	A	6: 3,487,280		probably benign	Het
Ipo11	T	C	13: 106,876,281		probably null	Het
Kcnh8	T	C	17: 52,898,497	M540T	probably damaging	Het
Kifc3	A	G	8: 95,109,954	S82P	probably damaging	Het
Map4k5	T	C	12: 69,892,702	Y20C	probably benign	Het
Milr1	C	A	11: 106,754,918	S95R	probably damaging	Het
Mtnr1b	A	C	9: 15,874,321	V47G	possibly damaging	Het
Olfr2	T	A	7: 107,001,618	K81*	probably null	Het
Phactr2	T	C	10: 13,291,888	R100G	probably damaging	Het
Ppargc1b	A	G	18: 61,298,739	Y997H	probably damaging	Het
Pramel3	A	G	X: 135,310,409	M397V	probably benign	Het
Ptprz1	A	G	6: 22,959,740	K79E	probably damaging	Het
Rabgef1	T	C	5: 130,191,022	S109P	probably damaging	Het
Raf1	A	T	6: 115,632,887		probably benign	Het
Rptor	T	C	11: 119,780,587	L292P	probably benign	Het
Slc25a45	A	G	19: 5,884,526	D174G	probably damaging	Het
Tbcd	C	T	11: 121,461,255	T146M	probably damaging	Het
Zfp458	T	A	13: 67,257,994	H127L	probably damaging	Het

Other mutations in Ighv2-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2871:Ighv2-2	UTSW	12	113588498	missense	possibly damaging	0.59
R2871:Ighv2-2	UTSW	12	113588498	missense	possibly damaging	0.59
R2874:Ighv2-2	UTSW	12	113588498	missense	possibly damaging	0.59
R5036:Ighv2-2	UTSW	12	113588472	missense	possibly damaging	0.69
R5677:Ighv2-2	UTSW	12	113588522	missense	probably benign	0.00
R7950:Ighv2-2	UTSW	12	113588294	missense	probably damaging	1.00
R8346:Ighv2-2	UTSW	12	113588569	nonsense	probably null

Posted On

2015-04-16