Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01817:Ighv1-43'

154410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-43

Ensembl Gene

ENSMUSG00000095859

Gene Name

immunoglobulin heavy variable V1-43

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL01817

Quality Score

Status

Chromosome

Chromosomal Location

114909570-114909863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114909715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 69 (E69G)

Ref Sequence

ENSEMBL: ENSMUSP00000142065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103517] [ENSMUST00000195417]

AlphaFold

A0A075B5V7

Predicted Effect

probably benign
Transcript: ENSMUST00000103517
AA Change: E50G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100298
Gene: ENSMUSG00000095859
AA Change: E50G

Domain	Start	End	E-Value	Type
IGv	17	98	3.36e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195417
AA Change: E69G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142065
Gene: ENSMUSG00000095859
AA Change: E69G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.4e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Eif4g3	T	C	4: 137,847,673 (GRCm39)	V198A	probably benign	Het
Exoc6b	T	C	6: 85,046,320 (GRCm39)	E23G	probably damaging	Het
Gm4847	C	A	1: 166,462,471 (GRCm39)	D340Y	probably damaging	Het
Gtf3c5	T	C	2: 28,459,301 (GRCm39)		probably null	Het
Ighv1-13	G	A	12: 114,594,600 (GRCm39)		probably benign	Het
Itln1	C	A	1: 171,356,728 (GRCm39)	L138F	probably damaging	Het
Nme1nme2	G	T	11: 93,846,447 (GRCm39)		probably benign	Het
Nsun5	G	T	5: 135,398,893 (GRCm39)	G19V	probably damaging	Het
Or4a78	A	G	2: 89,497,348 (GRCm39)	I294T	probably benign	Het
Or4c118	A	G	2: 88,974,702 (GRCm39)	F222L	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Per1	T	C	11: 68,995,025 (GRCm39)	L615P	probably damaging	Het
Pibf1	C	A	14: 99,423,908 (GRCm39)		probably benign	Het
Pik3r4	T	A	9: 105,528,021 (GRCm39)	I458N	probably damaging	Het
Ppp1r14a	T	C	7: 28,992,622 (GRCm39)	V108A	probably benign	Het
Scamp2	T	A	9: 57,488,903 (GRCm39)	C201*	probably null	Het
Speer1c	C	A	5: 10,295,297 (GRCm39)	A48S	probably damaging	Het
Stambpl1	G	T	19: 34,211,393 (GRCm39)	L151F	possibly damaging	Het
Tent5c	T	C	3: 100,380,171 (GRCm39)	Y195C	probably damaging	Het
Vmn1r64	G	A	7: 5,887,222 (GRCm39)	T107I	probably damaging	Het

Other mutations in Ighv1-43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Ighv1-43	APN	12	114,909,714 (GRCm39)	missense	probably benign
IGL02862:Ighv1-43	APN	12	114,909,859 (GRCm39)	missense	probably damaging	0.98
IGL03379:Ighv1-43	APN	12	114,909,625 (GRCm39)	missense	probably benign	0.41
R3921:Ighv1-43	UTSW	12	114,909,772 (GRCm39)	missense	probably benign	0.11
R4270:Ighv1-43	UTSW	12	114,909,772 (GRCm39)	missense	probably benign	0.00
R4753:Ighv1-43	UTSW	12	114,909,762 (GRCm39)	missense	probably benign	0.00
R4977:Ighv1-43	UTSW	12	114,909,845 (GRCm39)	missense	possibly damaging	0.95
R5949:Ighv1-43	UTSW	12	114,910,002 (GRCm39)	start codon destroyed	probably null	0.22
R5977:Ighv1-43	UTSW	12	114,909,829 (GRCm39)	missense	probably benign	0.07
R7889:Ighv1-43	UTSW	12	114,909,583 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04