Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:Ighv1-72'

555880

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-72

Ensembl Gene

ENSMUSG00000096074

Gene Name

immunoglobulin heavy variable 1-72

Synonyms

Gm16709

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

PIT4472001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115721604-115721897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115721620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

Ref Sequence

ENSEMBL: ENSMUSP00000100322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103541]

AlphaFold

P06328

Predicted Effect

probably damaging
Transcript: ENSMUST00000103541
AA Change: V112A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100322
Gene: ENSMUSG00000096074
AA Change: V112A

Domain	Start	End	E-Value	Type
IGv	36	117	8.67e-31	SMART

Coding Region Coverage

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cd300e	T	A	11: 114,945,336 (GRCm39)	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,155,774 (GRCm39)	V1160D	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,854,477 (GRCm39)	V150M		Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het

Other mutations in Ighv1-72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01577:Ighv1-72	APN	12	115,721,893 (GRCm39)	missense	possibly damaging	0.75
R3777:Ighv1-72	UTSW	12	115,721,636 (GRCm39)	missense	probably damaging	0.99
R3778:Ighv1-72	UTSW	12	115,721,636 (GRCm39)	missense	probably damaging	0.99
R3779:Ighv1-72	UTSW	12	115,721,636 (GRCm39)	missense	probably damaging	0.99
R4154:Ighv1-72	UTSW	12	115,722,017 (GRCm39)	missense	probably benign	0.02
R6023:Ighv1-72	UTSW	12	115,721,532 (GRCm39)	unclassified	probably benign
R6281:Ighv1-72	UTSW	12	115,722,023 (GRCm39)	missense	probably benign
R7400:Ighv1-72	UTSW	12	115,721,837 (GRCm39)	missense	probably damaging	0.99
Z1177:Ighv1-72	UTSW	12	115,721,821 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCATTTGCAAAGTGGACAAAAGC -3'
(R):5'- TCTGGCTACACCTTCACCAG -3'

Sequencing Primer
(F):5'- TTTGCAAAGTGGACAAAAGCACTAC -3'
(R):5'- AGCTACTGGATGCACTGGG -3'

Posted On

2019-06-07