Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02862:Ighv1-43'

362183

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 #

IGL02862

Quality Score

Status

Chromosome

Chromosomal Location

114909570-114909863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114909859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

Ref Sequence

ENSEMBL: ENSMUSP00000142065 (fasta)

Gene Model

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

AlphaFold

A0A075B5V7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103517
AA Change: V2A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100298
Gene: ENSMUSG00000095859
AA Change: V2A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195417
AA Change: V21A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142065
Gene: ENSMUSG00000095859
AA Change: V21A

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,611,659 (GRCm39)		probably benign	Het
Adhfe1	T	C	1: 9,624,036 (GRCm39)	L170P	probably damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Akr1e1	T	C	13: 4,659,092 (GRCm39)	T11A	possibly damaging	Het
Arhgap23	A	G	11: 97,347,306 (GRCm39)	E668G	probably damaging	Het
Ccdc163	G	A	4: 116,569,910 (GRCm39)		probably null	Het
Egfr	A	T	11: 16,833,562 (GRCm39)	Y610F	probably benign	Het
Ercc3	T	C	18: 32,376,255 (GRCm39)		probably null	Het
Fasn	G	T	11: 120,709,805 (GRCm39)	H417Q	possibly damaging	Het
Gjd2	A	G	2: 113,843,624 (GRCm39)		probably benign	Het
Grip2	C	T	6: 91,765,085 (GRCm39)	R59H	probably damaging	Het
H2bc11	C	T	13: 22,227,515 (GRCm39)	S39L	possibly damaging	Het
Ltbp1	G	A	17: 75,697,466 (GRCm39)	G1368D	probably damaging	Het
Mogs	G	T	6: 83,092,871 (GRCm39)	G104C	probably damaging	Het
Nfix	T	A	8: 85,440,475 (GRCm39)	T472S	probably benign	Het
Or5m9	T	C	2: 85,877,648 (GRCm39)	V274A	probably benign	Het
Ovch2	A	T	7: 107,394,138 (GRCm39)	V105E	probably damaging	Het
Pex1	G	T	5: 3,655,424 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Prl7a1	T	C	13: 27,823,872 (GRCm39)	T70A	probably benign	Het
Shmt2	C	T	10: 127,354,743 (GRCm39)	R311Q	probably benign	Het
St3gal4	A	G	9: 34,963,543 (GRCm39)	I255T	probably benign	Het
Taf8	C	T	17: 47,805,339 (GRCm39)	A187T	probably damaging	Het
Tm6sf1	T	A	7: 81,520,504 (GRCm39)	V62D	probably damaging	Het
Trpm5	A	T	7: 142,636,262 (GRCm39)	W537R	probably damaging	Het
Vmn2r101	T	A	17: 19,831,867 (GRCm39)	L621H	probably damaging	Het

Other mutations in Ighv1-43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Ighv1-43	APN	12	114,909,715 (GRCm39)	missense	probably benign
IGL01817:Ighv1-43	APN	12	114,909,714 (GRCm39)	missense	probably benign
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

2015-12-18