Mutagenetix > Incidental Mutation

Incidental Mutation 'R3777:Ighv1-72'

473529

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: 0.177) question?

Stock #

R3777 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

115721604-115721897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115721636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 107 (S107T)

Ref Sequence

ENSEMBL: ENSMUSP00000100322 (fasta)

Gene Model

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

AlphaFold

P06328

Predicted Effect

probably damaging
Transcript: ENSMUST00000103541
AA Change: S107T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100322
Gene: ENSMUSG00000096074
AA Change: S107T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dsg1b	G	A	18: 20,532,644 (GRCm39)	V563I	probably damaging	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fam171b	T	A	2: 83,708,605 (GRCm39)	I369K	probably benign	Het
Fmn1	A	G	2: 113,195,467 (GRCm39)	E389G	unknown	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Grip1	G	A	10: 119,821,535 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,428,229 (GRCm39)	L789I	possibly damaging	Het
Hsd17b1	T	C	11: 100,969,529 (GRCm39)	S59P	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Larp4	T	A	15: 99,888,238 (GRCm39)	W92R	probably damaging	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mfsd4b2	A	G	10: 39,797,527 (GRCm39)	I276T	possibly damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Myo18b	T	A	5: 112,905,462 (GRCm39)	E2045D	probably damaging	Het
Mypn	T	C	10: 62,983,761 (GRCm39)	T496A	possibly damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Or13c3	A	T	4: 52,855,636 (GRCm39)	N292K	probably damaging	Het
Or2d4	A	T	7: 106,543,519 (GRCm39)	S230T	probably benign	Het
Or4b13	T	C	2: 90,082,969 (GRCm39)	Y121C	probably damaging	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Or8g33	A	T	9: 39,337,901 (GRCm39)	S155R	possibly damaging	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Pik3cg	A	C	12: 32,244,708 (GRCm39)	C915W	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Rapgef1	C	T	2: 29,609,701 (GRCm39)	H675Y	possibly damaging	Het
Rpn2	T	A	2: 157,141,477 (GRCm39)	V263D	probably damaging	Het
Rps13	A	G	7: 115,933,160 (GRCm39)	L16P	probably damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Semp2l2b	T	C	10: 21,942,861 (GRCm39)	E373G	probably damaging	Het
Smarcc2	G	A	10: 128,318,812 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Spag9	G	A	11: 93,989,852 (GRCm39)		probably null	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syt17	A	G	7: 118,033,180 (GRCm39)	L215P	probably damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tph2	T	C	10: 114,915,910 (GRCm39)	D421G	probably benign	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Vdac3	T	C	8: 23,070,525 (GRCm39)	N128D	probably benign	Het
Vegfb	G	A	19: 6,964,767 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	probably 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
PIT4472001:Ighv1-72	UTSW	12	115,721,620 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2017-04-14