Mutagenetix > Incidental Mutation

Incidental Mutation 'R3004:Ighv5-9'

477371

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9

Ensembl Gene

ENSMUSG00000095285

Gene Name

immunoglobulin heavy variable 5-9

Synonyms

Gm16949

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R3004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113625391-113625848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113625567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000100229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103448]

AlphaFold

A0A075B5Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000103448
AA Change: T59A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100229
Gene: ENSMUSG00000095285
AA Change: T59A

Domain	Start	End	E-Value	Type
IGv	36	117	1.72e-34	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	G	A	7: 80,753,103 (GRCm39)	W1553*	probably null	Het
Art2a	T	C	7: 101,203,972 (GRCm39)	I189V	probably benign	Het
BC049715	A	G	6: 136,816,790 (GRCm39)	E10G	possibly damaging	Het
Ccdc158	A	G	5: 92,796,929 (GRCm39)	L469P	probably damaging	Het
Cspg4b	T	C	13: 113,502,688 (GRCm39)	F131S	probably damaging	Het
Ctsm	T	C	13: 61,687,682 (GRCm39)	I59V	possibly damaging	Het
Daam2	A	G	17: 49,767,682 (GRCm39)	F970L	probably damaging	Het
Gm21903	A	T	17: 39,353,547 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
H2bc7	G	A	13: 23,758,355 (GRCm39)		probably benign	Het
Hoxd10	T	A	2: 74,522,706 (GRCm39)	V128D	probably benign	Het
Nlrp4c	G	A	7: 6,068,524 (GRCm39)	V142M	probably benign	Het
Npc1	A	G	18: 12,330,311 (GRCm39)	F947L	probably benign	Het
Or1ak2	T	A	2: 36,827,221 (GRCm39)	I30N	possibly damaging	Het
Or56b1b	G	T	7: 108,164,151 (GRCm39)	H284N	probably benign	Het
Piezo2	G	T	18: 63,157,506 (GRCm39)	Y223*	probably null	Het
Rhog	A	T	7: 101,889,345 (GRCm39)	V36E	probably damaging	Het
Sbno1	G	A	5: 124,519,771 (GRCm39)	T1168I	probably damaging	Het
Sin3a	T	A	9: 57,004,118 (GRCm39)	L290*	probably null	Het
Slco1c1	G	T	6: 141,478,380 (GRCm39)	A48S	probably damaging	Het
Slfn9	A	T	11: 82,872,590 (GRCm39)	S715R	possibly damaging	Het
Sox17	T	C	1: 4,562,840 (GRCm39)	E120G	probably damaging	Het

Other mutations in Ighv5-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Ighv5-9	APN	12	113,625,563 (GRCm39)	missense	probably damaging	1.00
FR4304:Ighv5-9	UTSW	12	113,625,497 (GRCm39)	missense	probably benign	0.02
FR4340:Ighv5-9	UTSW	12	113,625,497 (GRCm39)	missense	probably benign	0.02
FR4342:Ighv5-9	UTSW	12	113,625,497 (GRCm39)	missense	probably benign	0.02
FR4589:Ighv5-9	UTSW	12	113,625,497 (GRCm39)	missense	probably benign	0.02
LCD18:Ighv5-9	UTSW	12	113,625,497 (GRCm39)	missense	probably benign	0.02
R4663:Ighv5-9	UTSW	12	113,625,440 (GRCm39)	missense	probably benign	0.42
R4938:Ighv5-9	UTSW	12	113,625,582 (GRCm39)	missense	probably benign	0.00
R8807:Ighv5-9	UTSW	12	113,625,404 (GRCm39)	missense	possibly damaging	0.78
R9530:Ighv5-9	UTSW	12	113,625,677 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2017-05-15