Mutagenetix > Incidental Mutations

Incidental Mutation 'R2874:Ighv2-2'

477081

Institutional Source

Beutler Lab

Gene Symbol

Ighv2-2

Ensembl Gene

ENSMUSG00000096464

Gene Name

immunoglobulin heavy variable 2-2

Synonyms

Gm16970

MMRRC Submission

040462-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R2874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113588267-113588702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113588498 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 40 (T40I)

Ref Sequence

ENSEMBL: ENSMUSP00000100224 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103443
AA Change: T40I

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100224
Gene: ENSMUSG00000096464
AA Change: T40I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195336

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,382,570	I209F	probably damaging	Het
4931428F04Rik	A	G	8: 105,282,032	M451T	possibly damaging	Het
A930029G22Rik	T	A	17: 69,418,111		noncoding transcript	Het
Ankrd42	T	C	7: 92,605,358	K348E	possibly damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Cebpz	A	T	17: 78,932,103		probably benign	Het
Clcn4	A	G	7: 7,290,521	I412T	probably benign	Het
Clstn3	T	A	6: 124,438,335	D690V	probably damaging	Het
Col12a1	A	T	9: 79,699,549	F531I	probably damaging	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Ext2	A	G	2: 93,739,686	V460A	possibly damaging	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Fscb	T	C	12: 64,473,436	K419E	probably benign	Het
Ggct	G	T	6: 54,992,774	A21D	probably damaging	Het
Gm10717	A	G	9: 3,025,532	Y39C	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Itpr2	T	C	6: 146,426,498	K79R	possibly damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lactbl1	G	A	4: 136,626,786	C37Y	probably damaging	Het
Lrp1b	A	G	2: 40,851,693	L3188P	probably damaging	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Noc4l	A	G	5: 110,649,103	V465A	probably benign	Het
Notch1	A	G	2: 26,460,235	C2298R	possibly damaging	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Plxna3	T	A	X: 74,339,396		probably benign	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Prps1	C	T	X: 140,471,994		probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Ralgds	A	G	2: 28,548,769		probably null	Het
Rasl12	A	G	9: 65,408,323	N83S	probably benign	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rreb1	T	C	13: 37,916,508	I205T	probably benign	Het
Sgk2	A	G	2: 162,994,529		probably benign	Het
Spsb4	G	T	9: 96,996,018	T84K	probably damaging	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
St7	C	T	6: 17,819,277	P60L	probably damaging	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Tep1	A	G	14: 50,850,650	I85T	possibly damaging	Het
Trpa1	A	G	1: 14,887,620	C705R	probably damaging	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Ighv2-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02620:Ighv2-2	APN	12	113588292	missense	possibly damaging	0.69
R2871:Ighv2-2	UTSW	12	113588498	missense	possibly damaging	0.59
R2871: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

Predicted Primers

Posted On

2017-05-15