Mutagenetix > Incidental Mutation

Incidental Mutation 'R3404:Ighv1-53'

476086

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-53

Ensembl Gene

ENSMUSG00000093894

Gene Name

immunoglobulin heavy variable 1-53

Synonyms

V23-D-J-C mu, AB069917

MMRRC Submission

040622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R3404 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

115122065-115122455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115122058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 106 (T106S)

Ref Sequence

ENSEMBL: ENSMUSP00000100304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103523]

AlphaFold

A0A075B5W3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103523
AA Change: T106S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: T106S

Domain	Start	End	E-Value	Type
IGv	36	117	3.52e-31	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 93.8%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,571,449 (GRCm39)	V1065M	probably damaging	Het
Alg12	A	T	15: 88,698,782 (GRCm39)	I181N	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,682,252 (GRCm39)	K1220*	probably null	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Baz1a	C	T	12: 54,963,774 (GRCm39)	S770N	probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Bnc2	G	T	4: 84,464,478 (GRCm39)	N20K	probably damaging	Het
Brip1	T	A	11: 86,034,089 (GRCm39)	N544I	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cyp2c66	T	C	19: 39,151,771 (GRCm39)	V162A	probably benign	Het
Dnai1	A	T	4: 41,603,246 (GRCm39)	E176D	probably benign	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Fezf1	A	T	6: 23,247,283 (GRCm39)	V264D	probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hspa13	C	A	16: 75,554,914 (GRCm39)	E391*	probably null	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Itgam	A	G	7: 127,669,875 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mycbp2	C	A	14: 103,437,550 (GRCm39)	C2104F	probably damaging	Het
Nlrp2	T	C	7: 5,322,286 (GRCm39)	D49G	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Prkd1	C	T	12: 50,695,687 (GRCm39)	A24T	unknown	Het
Pzp	G	A	6: 128,490,769 (GRCm39)	T398M	probably damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rnf146	A	G	10: 29,223,424 (GRCm39)	V154A	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Snx31	C	T	15: 36,525,799 (GRCm39)	C300Y	probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Trim33	A	G	3: 103,228,875 (GRCm39)	E327G	probably damaging	Het
Ubap2l	T	C	3: 89,946,157 (GRCm39)	E149G	probably damaging	Het
Ube4a	A	G	9: 44,840,985 (GRCm39)	S979P	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vps13b	T	C	15: 35,926,200 (GRCm39)	S3834P	probably damaging	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	Het
Zfp729b	T	G	13: 67,739,283 (GRCm39)	H994P	probably damaging	Het

Other mutations in Ighv1-53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:Ighv1-53	APN	12	115,122,217 (GRCm39)	missense	probably benign	0.01
IGL02326:Ighv1-53	APN	12	115,122,235 (GRCm39)	missense	probably benign	0.21
BB010:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
BB020:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
R4020:Ighv1-53	UTSW	12	115,122,442 (GRCm39)	missense	probably benign	0.00
R4169:Ighv1-53	UTSW	12	115,122,166 (GRCm39)	missense	possibly damaging	0.63
R4241:Ighv1-53	UTSW	12	115,122,442 (GRCm39)	missense	probably benign	0.00
R5231:Ighv1-53	UTSW	12	115,122,225 (GRCm39)	missense	probably benign	0.09
R7139:Ighv1-53	UTSW	12	115,122,441 (GRCm39)	nonsense	probably null
R7220:Ighv1-53	UTSW	12	115,122,135 (GRCm39)	missense	probably benign	0.00
R7293:Ighv1-53	UTSW	12	115,122,441 (GRCm39)	nonsense	probably null
R7933:Ighv1-53	UTSW	12	115,122,029 (GRCm39)	nonsense	probably null
R7934:Ighv1-53	UTSW	12	115,122,236 (GRCm39)	nonsense	probably null
R8846:Ighv1-53	UTSW	12	115,122,165 (GRCm39)	missense	probably damaging	0.99
R9707:Ighv1-53	UTSW	12	115,122,035 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2017-05-11