Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01798:Ighv1-22'

155413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-22

Ensembl Gene

ENSMUSG00000094561

Gene Name

immunoglobulin heavy variable 1-22

Synonyms

Gm16860

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01798

Quality Score

Status

Chromosome

Chromosomal Location

114709893-114710186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114710298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 10 (L10H)

Ref Sequence

ENSEMBL: ENSMUSP00000100288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103507]

AlphaFold

A0A075B5U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103507
AA Change: L10H

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

SMART Domains

Protein: ENSMUSP00000100288
Gene: ENSMUSG00000094561
AA Change: L10H

Domain	Start	End	E-Value	Type
IGv	36	117	9.01e-29	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
1700017B05Rik	T	C	9: 57,163,921 (GRCm39)	I818V	probably benign	Het
Adam22	A	C	5: 8,282,604 (GRCm39)		probably null	Het
Afap1	T	A	5: 36,093,026 (GRCm39)		probably null	Het
Aunip	G	T	4: 134,250,722 (GRCm39)	K222N	possibly damaging	Het
Ccnt1	A	G	15: 98,442,122 (GRCm39)	V382A	probably benign	Het
Clip1	T	C	5: 123,721,612 (GRCm39)	D1123G	probably damaging	Het
Cxcr1	T	A	1: 74,231,759 (GRCm39)	I88F	possibly damaging	Het
Duox2	A	C	2: 122,112,389 (GRCm39)	Y1266D	probably damaging	Het
Elk4	T	A	1: 131,945,592 (GRCm39)	S157T	possibly damaging	Het
Erc1	T	C	6: 119,597,298 (GRCm39)	T1004A	possibly damaging	Het
Fah	T	C	7: 84,238,837 (GRCm39)	N336S	probably benign	Het
Glg1	A	T	8: 111,919,332 (GRCm39)	S253T	possibly damaging	Het
Gm10377	A	T	14: 42,614,864 (GRCm39)	I167K	probably benign	Het
Hipk1	A	T	3: 103,668,875 (GRCm39)	I507N	probably damaging	Het
Hnf1a	T	C	5: 115,091,732 (GRCm39)	E357G	probably damaging	Het
Igkv6-23	A	G	6: 70,237,574 (GRCm39)	Y56H	probably damaging	Het
Lyrm9	A	G	11: 78,728,955 (GRCm39)	I56V	probably damaging	Het
Ncam1	G	T	9: 49,419,907 (GRCm39)	T804K	probably damaging	Het
Nfu1	T	A	6: 86,992,605 (GRCm39)	I73K	probably damaging	Het
Ruvbl2	A	G	7: 45,071,587 (GRCm39)	L432P	probably damaging	Het
Tcf3	T	C	10: 80,249,043 (GRCm39)	T527A	probably benign	Het
Tle1	T	C	4: 72,055,385 (GRCm39)	D432G	probably damaging	Het

Other mutations in Ighv1-22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02584:Ighv1-22	APN	12	114,709,942 (GRCm39)	missense	probably benign	0.00
R2858:Ighv1-22	UTSW	12	114,709,918 (GRCm39)	missense	probably damaging	1.00
R3849:Ighv1-22	UTSW	12	114,710,301 (GRCm39)	missense	possibly damaging	0.89
R4479:Ighv1-22	UTSW	12	114,710,283 (GRCm39)	missense	possibly damaging	0.80
R4667:Ighv1-22	UTSW	12	114,710,071 (GRCm39)	missense	probably damaging	0.96
R4874:Ighv1-22	UTSW	12	114,710,036 (GRCm39)	missense	probably benign	0.07
R5151:Ighv1-22	UTSW	12	114,709,928 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-02-04