Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02561:Ighv1-54'

298646

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 #

IGL02561

Quality Score

Status

Chromosome

Chromosomal Location

115157295-115157588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115157389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 86 (K86R)

Ref Sequence

ENSEMBL: ENSMUSP00000100306 (fasta)

Gene Model

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

AlphaFold

A0A075B5W5

Predicted Effect

probably benign
Transcript: ENSMUST00000103525
AA Change: K86R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100306
Gene: ENSMUSG00000094787
AA Change: K86R

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,125,536 (GRCm39)	Q49L	probably benign	Het
Aifm2	A	G	10: 61,561,786 (GRCm39)	D44G	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cmya5	T	C	13: 93,228,366 (GRCm39)	T2241A	probably benign	Het
Cntn4	C	T	6: 106,500,470 (GRCm39)	P316S	probably damaging	Het
Ctnna2	G	T	6: 77,822,563 (GRCm39)	S13R	probably benign	Het
Cyb5a	G	A	18: 84,889,637 (GRCm39)	G46D	probably damaging	Het
Daam1	T	C	12: 71,993,290 (GRCm39)	V353A	unknown	Het
Ddx6	C	T	9: 44,545,465 (GRCm39)	T417I	probably damaging	Het
Fcgbp	C	T	7: 27,800,599 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,598,954 (GRCm39)	I46T	possibly damaging	Het
Gm3629	T	C	14: 17,805,586 (GRCm39)		probably benign	Het
Grap2	A	T	15: 80,532,049 (GRCm39)		probably benign	Het
Gsto2	T	C	19: 47,874,629 (GRCm39)		probably benign	Het
Gtf2a1	A	T	12: 91,542,527 (GRCm39)	D57E	possibly damaging	Het
Hif1a	A	G	12: 73,988,980 (GRCm39)	I622M	possibly damaging	Het
Hmcn1	T	C	1: 150,685,477 (GRCm39)	T328A	probably benign	Het
Igkv4-55	C	T	6: 69,584,360 (GRCm39)	S84N	probably damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Kcnn2	A	G	18: 45,725,259 (GRCm39)	I252V	possibly damaging	Het
Lss	T	C	10: 76,376,264 (GRCm39)		probably benign	Het
Mlip	C	A	9: 77,088,633 (GRCm39)		probably null	Het
Ncbp1	C	T	4: 46,159,711 (GRCm39)	T408M	possibly damaging	Het
Notch4	A	G	17: 34,787,134 (GRCm39)		probably benign	Het
Npepps	A	T	11: 97,120,675 (GRCm39)	C528*	probably null	Het
Nxf2	T	C	X: 133,857,201 (GRCm39)	T163A	probably benign	Het
Or4c119	T	C	2: 88,987,485 (GRCm39)	I11M	possibly damaging	Het
Phka1	A	T	X: 101,641,895 (GRCm39)		probably benign	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Robo3	A	G	9: 37,338,387 (GRCm39)	S343P	possibly damaging	Het
Smarca2	A	G	19: 26,693,582 (GRCm39)	D1262G	possibly damaging	Het
Spns1	C	T	7: 125,972,941 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ttpal	A	G	2: 163,449,369 (GRCm39)	T75A	probably damaging	Het
Usp34	A	G	11: 23,301,652 (GRCm39)	T359A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zic2	A	T	14: 122,715,957 (GRCm39)	K360*	probably null	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
IGL02195:Ighv1-54	APN	12	115,157,570 (GRCm39)	missense	possibly damaging	0.75
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