Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01292:Ighv1-63'

72934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-63

Ensembl Gene

ENSMUSG00000096672

Gene Name

immunoglobulin heavy variable V1-63

Synonyms

ENSMUSG00000071119

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

115459245-115459678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115459478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 40 (S40P)

Ref Sequence

ENSEMBL: ENSMUSP00000100315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103534]

AlphaFold

A0A075B5X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103534
AA Change: S40P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100315
Gene: ENSMUSG00000096672
AA Change: S40P

Domain	Start	End	E-Value	Type
IGv	36	117	4.08e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183908

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,831 (GRCm39)	S1045G	probably benign	Het
Aak1	T	C	6: 86,926,520 (GRCm39)		probably benign	Het
Car15	A	G	16: 17,653,393 (GRCm39)	F258S	probably damaging	Het
Cpd	A	G	11: 76,737,071 (GRCm39)	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,410,098 (GRCm39)	D1758G	probably damaging	Het
Dnaaf11	A	T	15: 66,353,082 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,120,988 (GRCm39)	N75I	possibly damaging	Het
Eps8l1	T	C	7: 4,481,919 (GRCm39)		probably benign	Het
Gdpd4	T	C	7: 97,664,161 (GRCm39)		probably benign	Het
Igbp1b	C	T	6: 138,634,533 (GRCm39)	E304K	probably benign	Het
Intu	T	C	3: 40,618,696 (GRCm39)	V234A	probably benign	Het
Mars1	A	T	10: 127,141,387 (GRCm39)	I334N	probably damaging	Het
Morc2a	C	A	11: 3,638,175 (GRCm39)	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,764,090 (GRCm39)	M291K	probably benign	Het
Muc19	A	G	15: 91,778,470 (GRCm39)		noncoding transcript	Het
Myl3	A	T	9: 110,597,045 (GRCm39)	D135V	probably damaging	Het
Myt1	T	A	2: 181,446,805 (GRCm39)	L537M	probably damaging	Het
Ndst4	A	G	3: 125,232,403 (GRCm39)	D324G	probably damaging	Het
Plce1	T	A	19: 38,640,229 (GRCm39)		probably benign	Het
Prkab1	A	T	5: 116,162,169 (GRCm39)	F47Y	probably damaging	Het
Prkag2	C	T	5: 25,226,963 (GRCm39)	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,057,344 (GRCm39)	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,051 (GRCm39)	C67*	probably null	Het
Slc25a15	T	C	8: 22,880,052 (GRCm39)	D31G	possibly damaging	Het
Slc4a11	C	T	2: 130,532,752 (GRCm39)		probably null	Het
Snx15	A	T	19: 6,169,915 (GRCm39)	M331K	probably benign	Het
Tsks	T	C	7: 44,601,982 (GRCm39)	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,639,864 (GRCm39)	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,311,699 (GRCm39)	V135G	probably damaging	Het

Other mutations in Ighv1-63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Ighv1-63	APN	12	115,459,274 (GRCm39)	missense	probably damaging	1.00
R7372:Ighv1-63	UTSW	12	115,459,486 (GRCm39)	missense	probably damaging	1.00
R8532:Ighv1-63	UTSW	12	115,459,270 (GRCm39)	missense	probably damaging	1.00
R8829:Ighv1-63	UTSW	12	115,459,534 (GRCm39)	missense	probably benign	0.25
R9357:Ighv1-63	UTSW	12	115,459,478 (GRCm39)	missense	probably damaging	0.98
Z1176:Ighv1-63	UTSW	12	115,459,265 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-10-07