Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00841:Ighv1-64'

88910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-64

Ensembl Gene

ENSMUSG00000094088

Gene Name

immunoglobulin heavy variable 1-64

Synonyms

Gm16865

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL00841

Quality Score

Status

Chromosome

Chromosomal Location

115471207-115471597 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 115471596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000100316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103535]

AlphaFold

A0A075B5X3

Predicted Effect

probably null
Transcript: ENSMUST00000103535
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100316
Gene: ENSMUSG00000094088
AA Change: M1K

Domain	Start	End	E-Value	Type
IGv	36	117	2.29e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	T	C	13: 96,554,338 (GRCm39)		probably benign	Het
Arl2	C	A	19: 6,185,999 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,225,689 (GRCm39)	S514P	probably damaging	Het
Ces1a	G	T	8: 93,766,164 (GRCm39)	S150*	probably null	Het
Ces1g	T	A	8: 94,029,615 (GRCm39)	D539V	possibly damaging	Het
Col24a1	A	G	3: 145,068,064 (GRCm39)	D752G	probably damaging	Het
Ctsd	A	C	7: 141,936,418 (GRCm39)	S128A	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dscam	G	A	16: 96,621,077 (GRCm39)	L544F	probably damaging	Het
Fry	T	A	5: 150,346,189 (GRCm39)	I1566N	probably benign	Het
Fut8	T	A	12: 77,412,095 (GRCm39)	H148Q	probably benign	Het
Ivd	T	C	2: 118,707,383 (GRCm39)	V299A	probably benign	Het
Kcnab3	A	G	11: 69,222,129 (GRCm39)	I292V	probably benign	Het
Mfhas1	T	A	8: 36,058,040 (GRCm39)	N838K	probably damaging	Het
Prom1	A	T	5: 44,220,458 (GRCm39)		probably benign	Het
Ros1	T	G	10: 52,020,969 (GRCm39)	T648P	possibly damaging	Het
Scel	A	T	14: 103,767,431 (GRCm39)	Q30L	probably benign	Het
Skp2	A	C	15: 9,139,574 (GRCm39)	S40R	probably benign	Het
Tm9sf1	T	A	14: 55,880,184 (GRCm39)	K71M	probably damaging	Het
Vegfb	A	G	19: 6,963,846 (GRCm39)	W38R	probably damaging	Het
Xpo1	T	G	11: 23,235,094 (GRCm39)	F588V	probably damaging	Het
Zfp990	C	A	4: 145,264,438 (GRCm39)	L479M	probably damaging	Het

Other mutations in Ighv1-64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02355:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL02362:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL02615:Ighv1-64	APN	12	115,471,307 (GRCm39)	missense	possibly damaging	0.90
IGL03085:Ighv1-64	APN	12	115,471,461 (GRCm39)	missense	possibly damaging	0.79
R4724:Ighv1-64	UTSW	12	115,471,466 (GRCm39)	missense	probably benign	0.02
R4829:Ighv1-64	UTSW	12	115,471,346 (GRCm39)	missense	probably benign
R8080:Ighv1-64	UTSW	12	115,471,463 (GRCm39)	missense	probably benign	0.00
R8459:Ighv1-64	UTSW	12	115,471,256 (GRCm39)	missense	probably benign	0.00
R8735:Ighv1-64	UTSW	12	115,471,217 (GRCm39)	missense	probably benign	0.18
R9324:Ighv1-64	UTSW	12	115,471,645 (GRCm39)	start gained	probably benign
Z1177:Ighv1-64	UTSW	12	115,471,286 (GRCm39)	missense	probably benign	0.07

Posted On

2013-12-03