Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Ighv1-62-3'

522368

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-62-3

Ensembl Gene

ENSMUSG00000096767

Gene Name

immunoglobulin heavy variable 1-62-3

Synonyms

Gm9235

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115460999-115461431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115461006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 115 (C115F)

Ref Sequence

ENSEMBL: ENSMUSP00000100313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103532]

AlphaFold

P01754

Predicted Effect

probably damaging
Transcript: ENSMUST00000103532
AA Change: C115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100313
Gene: ENSMUSG00000096767
AA Change: C115F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IGv	36	117	2.84e-26	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	probably damaging	Het

Other mutations in Ighv1-62-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Ighv1-62-3	APN	12	115460993	unclassified	probably benign
R4788:Ighv1-62-3	UTSW	12	115461052	missense	probably benign	0.01
R5039:Ighv1-62-3	UTSW	12	115461394	missense	probably benign	0.17
R5231:Ighv1-62-3	UTSW	12	115461051	missense	possibly damaging	0.90
R6151:Ighv1-62-3	UTSW	12	115461289	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCAAAGTGGACAAAAGCACTAC -3'
(R):5'- TCTGGCTACACCTTCACCAG -3'

Sequencing Primer
(F):5'- GTGGACAAAAGCACTACAGGACTC -3'
(R):5'- AGCTACTGGATGCACTGGG -3'

Posted On

2018-06-06