Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02316:Ighv5-17'

288022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-17

Ensembl Gene

ENSMUSG00000095571

Gene Name

immunoglobulin heavy variable 5-17

Synonyms

Gm16609

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL02316

Quality Score

Status

Chromosome

Chromosomal Location

113822769-113823062 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113822775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 115 (C115*)

Ref Sequence

ENSEMBL: ENSMUSP00000100240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103459]

AlphaFold

A0A075B5R1

Predicted Effect

probably null
Transcript: ENSMUST00000103459
AA Change: C115*

SMART Domains

Protein: ENSMUSP00000100240
Gene: ENSMUSG00000095571
AA Change: C115*

Domain	Start	End	E-Value	Type
IGv	36	117	5.67e-35	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	G	T	13: 4,253,458 (GRCm39)		probably benign	Het
Arhgap26	C	T	18: 38,775,599 (GRCm39)		noncoding transcript	Het
Atp5f1b	T	C	10: 127,920,178 (GRCm39)	V108A	probably benign	Het
B230307C23Rik	G	A	16: 97,809,850 (GRCm39)	V9M	probably damaging	Het
Ccdc85c	T	A	12: 108,177,829 (GRCm39)	H321L	probably damaging	Het
Diaph3	A	T	14: 87,223,551 (GRCm39)	M321K	possibly damaging	Het
Dicer1	G	A	12: 104,668,812 (GRCm39)	A1290V	probably damaging	Het
Dnah6	G	A	6: 73,145,894 (GRCm39)	T839M	probably benign	Het
Eif3a	G	A	19: 60,760,076 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,501,018 (GRCm39)		probably benign	Het
Exoc4	A	G	6: 33,887,519 (GRCm39)	Q769R	probably damaging	Het
Fam184a	T	G	10: 53,514,335 (GRCm39)	T426P	probably damaging	Het
Fsip2	C	A	2: 82,809,137 (GRCm39)	H1819N	probably benign	Het
Gm6686	T	A	17: 15,786,500 (GRCm39)		probably benign	Het
Hadha	T	C	5: 30,331,565 (GRCm39)	S464G	probably benign	Het
Jmjd6	T	C	11: 116,733,928 (GRCm39)	Y31C	possibly damaging	Het
Klrb1-ps1	G	A	6: 129,093,532 (GRCm39)		noncoding transcript	Het
Mgat1	T	C	11: 49,152,185 (GRCm39)	Y223H	probably damaging	Het
Muc4	T	C	16: 32,569,668 (GRCm39)	S243P	possibly damaging	Het
Numa1	T	C	7: 101,650,577 (GRCm39)	L69P	probably damaging	Het
Or11h6	T	C	14: 50,879,744 (GRCm39)	I2T	probably benign	Het
Or1j21	A	T	2: 36,683,632 (GRCm39)	H128L	probably damaging	Het
Or1j4	C	A	2: 36,740,294 (GRCm39)	P79T	probably damaging	Het
Or4p23	A	G	2: 88,577,187 (GRCm39)	F15S	probably damaging	Het
Pde1c	A	T	6: 56,128,336 (GRCm39)	D332E	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,835 (GRCm39)	I1143V	probably benign	Het
Rsl1	T	A	13: 67,325,120 (GRCm39)		probably null	Het
Scg2	A	C	1: 79,413,398 (GRCm39)	L442V	probably damaging	Het
Sez6l	A	T	5: 112,610,828 (GRCm39)	V530E	probably damaging	Het
Ubr4	T	C	4: 139,200,489 (GRCm39)	I4655T	possibly damaging	Het
Zcwpw1	T	C	5: 137,808,272 (GRCm39)		probably benign	Het

Other mutations in Ighv5-17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01948:Ighv5-17	APN	12	113,823,046 (GRCm39)	missense	probably damaging	1.00
IGL03286:Ighv5-17	APN	12	113,822,797 (GRCm39)	missense	possibly damaging	0.92
R3806:Ighv5-17	UTSW	12	113,822,918 (GRCm39)	missense	probably benign	0.10
R5326:Ighv5-17	UTSW	12	113,822,878 (GRCm39)	missense	possibly damaging	0.69
R6137:Ighv5-17	UTSW	12	113,822,915 (GRCm39)	missense	probably benign	0.01
R7289:Ighv5-17	UTSW	12	113,822,858 (GRCm39)	missense	probably damaging	0.99
R8550:Ighv5-17	UTSW	12	113,822,904 (GRCm39)	missense	possibly damaging	0.48
R9445:Ighv5-17	UTSW	12	113,822,858 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16