Mutagenetix > Incidental Mutation

Incidental Mutation 'R3080:Ighv5-6'

477653

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-6

Ensembl Gene

ENSMUSG00000094951

Gene Name

immunoglobulin heavy variable 5-6

Synonyms

Gm16891

MMRRC Submission

040570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R3080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113589128-113589421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113589237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 81 (D81V)

Ref Sequence

ENSEMBL: ENSMUSP00000100227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103446]

AlphaFold

A0A075B5Q0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103446
AA Change: D81V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100227
Gene: ENSMUSG00000094951
AA Change: D81V

Domain	Start	End	E-Value	Type
IGv	36	117	2.61e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195021

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer3	T	G	1: 34,627,503 (GRCm39)	L581V	probably benign	Het
Anks4b	A	T	7: 119,781,146 (GRCm39)	D59V	probably damaging	Het
Cdc42bpb	A	G	12: 111,262,252 (GRCm39)	I75T	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Ciao2b	G	C	8: 105,368,259 (GRCm39)	R22G	possibly damaging	Het
Clca4a	T	A	3: 144,669,551 (GRCm39)	K333N	probably damaging	Het
Copa	G	T	1: 171,940,716 (GRCm39)	D710Y	probably damaging	Het
Cyp3a25	T	A	5: 145,935,341 (GRCm39)	I92F	probably benign	Het
Dcx	T	A	X: 142,706,266 (GRCm39)	D175V	probably damaging	Het
Fam76b	G	A	9: 13,744,458 (GRCm39)	G185D	probably benign	Het
Fastkd5	T	C	2: 130,457,373 (GRCm39)	M406V	possibly damaging	Het
Fbn2	G	A	18: 58,282,122 (GRCm39)	S298L	probably damaging	Het
Gak	T	C	5: 108,761,468 (GRCm39)	K188E	possibly damaging	Het
Gemin2	G	A	12: 59,071,877 (GRCm39)	C230Y	probably damaging	Het
Gm5150	A	C	3: 16,045,085 (GRCm39)	S47A	possibly damaging	Het
H3c2	A	G	13: 23,936,481 (GRCm39)	H40R	possibly damaging	Het
Herc3	A	T	6: 58,833,631 (GRCm39)		probably null	Het
Igkv13-54-1	A	G	6: 69,594,454 (GRCm39)		probably null	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Ltbp3	GTA	GTATA	19: 5,806,916 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,403,218 (GRCm39)	E774K	probably damaging	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or6d14	T	G	6: 116,534,178 (GRCm39)	V264G	probably damaging	Het
Pcdhb3	T	G	18: 37,434,535 (GRCm39)	L167R	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Shcbp1l	A	G	1: 153,311,783 (GRCm39)	E312G	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc1a2	T	G	2: 102,578,901 (GRCm39)	L272R	probably damaging	Het
Slc35a5	A	T	16: 44,964,758 (GRCm39)	S152T	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tbr1	C	T	2: 61,637,635 (GRCm39)	Q65*	probably null	Het
Tro	G	A	X: 149,438,198 (GRCm39)	T153I	probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,205 (GRCm39)	D287G	probably damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Zfp35	T	A	18: 24,136,367 (GRCm39)	I237N	probably damaging	Het

Other mutations in Ighv5-6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02956:Ighv5-6	APN	12	113,589,523 (GRCm39)	splice site	probably benign
R1567:Ighv5-6	UTSW	12	113,589,528 (GRCm39)	splice site	probably benign
R3079:Ighv5-6	UTSW	12	113,589,237 (GRCm39)	missense	probably damaging	1.00
R4484:Ighv5-6	UTSW	12	113,589,208 (GRCm39)	nonsense	probably null
R5629:Ighv5-6	UTSW	12	113,589,242 (GRCm39)	nonsense	probably null
R7070:Ighv5-6	UTSW	12	113,589,429 (GRCm39)	missense	probably damaging	1.00
R9026:Ighv5-6	UTSW	12	113,589,247 (GRCm39)	missense	probably benign	0.12

Predicted Primers

Posted On

2017-05-15