Mutagenetix > Incidental Mutation

Incidental Mutation 'R3971:Ighv1-37'

474964

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-37

Ensembl Gene

ENSMUSG00000095923

Gene Name

immunoglobulin heavy variable 1-37

Synonyms

Gm16716

MMRRC Submission

040839-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R3971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114859858-114860151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114860079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 43 (S43T)

Ref Sequence

ENSEMBL: ENSMUSP00000100295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103514] [ENSMUST00000193950]

AlphaFold

A0A075B5V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000103514
AA Change: S43T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100295
Gene: ENSMUSG00000095923
AA Change: S43T

Domain	Start	End	E-Value	Type
IGv	35	116	3.69e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193950
AA Change: S44T

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

SMART Domains

Protein: ENSMUSP00000141375
Gene: ENSMUSG00000095923
AA Change: S44T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.5e-27	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,971,615 (GRCm39)	P147L	probably damaging	Het
Apbb1ip	T	A	2: 22,713,506 (GRCm39)	D120E	unknown	Het
Atp10b	A	G	11: 43,107,339 (GRCm39)	D791G	probably damaging	Het
Aunip	A	G	4: 134,250,780 (GRCm39)	K242E	possibly damaging	Het
Ccdc80	A	G	16: 44,916,183 (GRCm39)	E313G	probably benign	Het
Cd72	C	T	4: 43,449,491 (GRCm39)	R275H	probably damaging	Het
Chrnb1	A	G	11: 69,683,742 (GRCm39)		probably benign	Het
Coro2b	C	T	9: 62,336,522 (GRCm39)	A251T	possibly damaging	Het
Cspg4b	A	G	13: 113,453,660 (GRCm39)	E41G	probably damaging	Het
Ddr2	A	G	1: 169,815,986 (GRCm39)	F574L	probably damaging	Het
Dock1	G	A	7: 134,348,637 (GRCm39)	D284N	probably damaging	Het
Dync1h1	A	G	12: 110,632,399 (GRCm39)	H4506R	probably benign	Het
Fam174b	T	C	7: 73,416,348 (GRCm39)	V147A	probably damaging	Het
Glp2r	T	A	11: 67,637,641 (GRCm39)	D130V	possibly damaging	Het
Gm18856	A	T	13: 14,139,433 (GRCm39)		probably benign	Het
Gm7247	A	G	14: 51,602,841 (GRCm39)	Y59C	probably damaging	Het
Hecw1	T	C	13: 14,411,514 (GRCm39)	D1062G	probably damaging	Het
Ifit2	A	G	19: 34,551,441 (GRCm39)	E327G	probably benign	Het
Man2b1	A	G	8: 85,812,020 (GRCm39)	N158S	probably damaging	Het
Mcoln1	T	A	8: 3,557,408 (GRCm39)	I138K	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mrc2	G	A	11: 105,218,857 (GRCm39)	D193N	possibly damaging	Het
Myo5b	C	T	18: 74,873,598 (GRCm39)	L1501F	probably damaging	Het
Nckap1l	A	G	15: 103,370,987 (GRCm39)	K189E	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6c69	T	C	10: 129,747,742 (GRCm39)	N135S	probably benign	Het
Otop1	A	G	5: 38,457,533 (GRCm39)	I431V	probably benign	Het
Psma8	A	G	18: 14,890,444 (GRCm39)	K195E	possibly damaging	Het
Rbm25	A	G	12: 83,721,982 (GRCm39)	T723A	probably benign	Het
Sema3b	A	G	9: 107,477,567 (GRCm39)	S485P	probably benign	Het
Slc12a2	T	A	18: 58,063,268 (GRCm39)	L916Q	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,971 (GRCm39)	D719V	possibly damaging	Het
Synj1	A	G	16: 90,788,491 (GRCm39)	S86P	probably damaging	Het
Tmem130	T	A	5: 144,692,131 (GRCm39)	H91L	probably benign	Het
Tsc2	T	C	17: 24,842,562 (GRCm39)	D288G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps35l	T	C	7: 118,433,022 (GRCm39)	I585T	probably damaging	Het
Wac	T	C	18: 7,916,175 (GRCm39)	V303A	probably damaging	Het
Zfhx2	A	G	14: 55,311,932 (GRCm39)	V254A	probably benign	Het
Zfp993	A	G	4: 146,742,089 (GRCm39)	T138A	probably benign	Het

Other mutations in Ighv1-37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ighv1-37	APN	12	114,860,070 (GRCm39)	missense	probably benign	0.00
R4533:Ighv1-37	UTSW	12	114,860,147 (GRCm39)	missense	probably damaging	1.00
R4614:Ighv1-37	UTSW	12	114,859,863 (GRCm39)	missense	probably benign	0.12
R5726:Ighv1-37	UTSW	12	114,860,294 (GRCm39)	unclassified	probably benign
R6842:Ighv1-37	UTSW	12	114,860,275 (GRCm39)	missense	probably damaging	0.98
R6985:Ighv1-37	UTSW	12	114,860,252 (GRCm39)	missense	probably benign	0.00
R7410:Ighv1-37	UTSW	12	114,860,099 (GRCm39)	missense	probably damaging	0.98
R8357:Ighv1-37	UTSW	12	114,860,245 (GRCm39)	critical splice donor site	probably benign
R8457:Ighv1-37	UTSW	12	114,860,245 (GRCm39)	critical splice donor site	probably benign
R8505:Ighv1-37	UTSW	12	114,860,248 (GRCm39)	missense	probably benign	0.00
R9209:Ighv1-37	UTSW	12	114,860,123 (GRCm39)	missense	possibly damaging	0.90
Z1088:Ighv1-37	UTSW	12	114,860,244 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

Posted On

2017-04-14