Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02195:Ighv1-54'

284016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-54

Ensembl Gene

ENSMUSG00000094787

Gene Name

immunoglobulin heavy variable V1-54

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02195

Quality Score

Status

Chromosome

Chromosomal Location

115157295-115157588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115157570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 26 (S26T)

Ref Sequence

ENSEMBL: ENSMUSP00000100306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103525]

AlphaFold

A0A075B5W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103525
AA Change: S26T

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100306
Gene: ENSMUSG00000094787
AA Change: S26T

Domain	Start	End	E-Value	Type
IGv	36	117	1.09e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	G	T	7: 79,476,433 (GRCm39)	A65D	probably damaging	Het
Birc6	C	T	17: 75,004,376 (GRCm39)		probably benign	Het
Car11	G	T	7: 45,350,716 (GRCm39)	V71L	probably damaging	Het
Cecr2	A	G	6: 120,708,367 (GRCm39)	Y123C	probably damaging	Het
Dnm2	G	A	9: 21,336,545 (GRCm39)	V52M	probably damaging	Het
Fbxo21	T	A	5: 118,140,219 (GRCm39)	C560S	probably damaging	Het
Gatb	A	T	3: 85,511,755 (GRCm39)	Y170F	probably benign	Het
Ints8	A	T	4: 11,221,222 (GRCm39)	W718R	probably damaging	Het
Iqgap2	T	A	13: 95,798,242 (GRCm39)		probably benign	Het
Kif4	T	C	X: 99,769,822 (GRCm39)	F1154S	probably damaging	Het
Klhl18	A	G	9: 110,267,970 (GRCm39)	C253R	possibly damaging	Het
Lilra6	T	C	7: 3,917,549 (GRCm39)	S149G	probably benign	Het
Lonrf1	G	A	8: 36,687,102 (GRCm39)	R745*	probably null	Het
Manea	A	C	4: 26,340,628 (GRCm39)	Y111*	probably null	Het
Map2k1	A	G	9: 64,101,090 (GRCm39)	I196T	probably benign	Het
Matn4	T	C	2: 164,242,972 (GRCm39)	D42G	probably damaging	Het
Meioc	C	A	11: 102,565,683 (GRCm39)	T433K	possibly damaging	Het
Mtmr7	A	G	8: 41,013,946 (GRCm39)	V204A	probably damaging	Het
Nus1	A	G	10: 52,309,465 (GRCm39)	D91G	probably damaging	Het
Or8a1b	A	G	9: 37,623,417 (GRCm39)	S53P	probably benign	Het
Pisd	A	G	5: 32,894,659 (GRCm39)	L549P	probably damaging	Het
Plcg1	T	C	2: 160,595,846 (GRCm39)	Y572H	possibly damaging	Het
Prdm15	A	G	16: 97,637,029 (GRCm39)	V96A	probably damaging	Het
Prune2	C	A	19: 17,096,921 (GRCm39)	D808E	probably benign	Het
Sema5b	G	A	16: 35,480,849 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,432,321 (GRCm39)	Q947L	probably damaging	Het
Sned1	A	G	1: 93,201,882 (GRCm39)	E616G	probably benign	Het
Snx18	T	C	13: 113,753,376 (GRCm39)	H519R	probably damaging	Het
Spring1	T	C	5: 118,397,462 (GRCm39)	L148P	probably damaging	Het
Syde2	A	G	3: 145,707,911 (GRCm39)	T617A	probably damaging	Het
Tmem139	G	T	6: 42,240,901 (GRCm39)	R162L	probably damaging	Het
Trim72	A	T	7: 127,607,136 (GRCm39)	M222L	probably damaging	Het

Other mutations in Ighv1-54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Ighv1-54	APN	12	115,157,557 (GRCm39)	missense	probably damaging	1.00
IGL02561:Ighv1-54	APN	12	115,157,389 (GRCm39)	missense	probably benign	0.22
IGL03084:Ighv1-54	APN	12	115,157,736 (GRCm39)	utr 5 prime	probably benign
R3035:Ighv1-54	UTSW	12	115,157,597 (GRCm39)	missense	probably damaging	0.99
R3767:Ighv1-54	UTSW	12	115,157,596 (GRCm39)	missense	possibly damaging	0.92
R4856:Ighv1-54	UTSW	12	115,157,423 (GRCm39)	missense	probably damaging	1.00
R4948:Ighv1-54	UTSW	12	115,157,438 (GRCm39)	missense	probably benign	0.35
R6091:Ighv1-54	UTSW	12	115,157,497 (GRCm39)	missense	probably benign	0.00
R7843:Ighv1-54	UTSW	12	115,157,483 (GRCm39)	missense	probably damaging	1.00
R9045:Ighv1-54	UTSW	12	115,157,500 (GRCm39)	missense	probably benign	0.35

Posted On

2015-04-16