Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03337:Igkv4-62'

417057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-62

Ensembl Gene

ENSMUSG00000094262

Gene Name

immunoglobulin kappa variable 4-62

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL03337

Quality Score

Status

Chromosome

Chromosomal Location

69376796-69377328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69376946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 68 (W68R)

Ref Sequence

ENSEMBL: ENSMUSP00000142538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177795] [ENSMUST00000198345]

AlphaFold

J3QNZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177795
AA Change: W46R

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137031
Gene: ENSMUSG00000094262
AA Change: W46R

Domain	Start	End	E-Value	Type
IGv	18	89	1.05e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198345
AA Change: W68R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142538
Gene: ENSMUSG00000094262
AA Change: W68R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	4.3e-23	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,995,930 (GRCm39)	I1356V	probably benign	Het
Akr1b8	T	C	6: 34,331,209 (GRCm39)	I15T	probably benign	Het
Arrdc3	G	A	13: 81,038,766 (GRCm39)	V23I	probably benign	Het
Bmp6	G	A	13: 38,682,919 (GRCm39)	V470I	probably damaging	Het
Cltc	A	T	11: 86,594,509 (GRCm39)	I1476N	possibly damaging	Het
Dclk2	A	C	3: 86,813,366 (GRCm39)	I193M	probably damaging	Het
Dnah5	A	G	15: 28,290,287 (GRCm39)	M1226V	probably benign	Het
Firrm	A	G	1: 163,818,328 (GRCm39)	S38P	probably damaging	Het
Gm6455	A	G	5: 10,917,251 (GRCm39)		noncoding transcript	Het
Lbr	C	T	1: 181,659,788 (GRCm39)	G136R	possibly damaging	Het
Ldhb	C	T	6: 142,439,882 (GRCm39)	M219I	probably benign	Het
Lysmd2	A	G	9: 75,542,945 (GRCm39)	D184G	probably damaging	Het
Nrxn3	T	A	12: 89,221,790 (GRCm39)	M150K	probably damaging	Het
Pdss2	T	C	10: 43,221,589 (GRCm39)	V167A	probably damaging	Het
Scn7a	A	T	2: 66,506,304 (GRCm39)	D1528E	probably benign	Het
Thsd7a	C	T	6: 12,405,173 (GRCm39)	C757Y	probably damaging	Het
Tmem213	T	C	6: 38,086,478 (GRCm39)		probably null	Het
Trip11	A	G	12: 101,851,278 (GRCm39)	S929P	probably damaging	Het
Utp20	T	A	10: 88,590,428 (GRCm39)	M2349L	probably benign	Het
Vmn2r58	T	A	7: 41,513,810 (GRCm39)	I278F	possibly damaging	Het
Vmn2r61	A	G	7: 41,916,509 (GRCm39)	N374S	possibly damaging	Het
Vps8	A	G	16: 21,381,918 (GRCm39)	T1089A	probably benign	Het

Other mutations in Igkv4-62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Igkv4-62	APN	6	69,377,035 (GRCm39)	missense	probably damaging	1.00
R0133:Igkv4-62	UTSW	6	69,377,053 (GRCm39)	missense	probably benign	0.02
R8784:Igkv4-62	UTSW	6	69,376,946 (GRCm39)	missense	probably damaging	1.00
R9410:Igkv4-62	UTSW	6	69,376,832 (GRCm39)	missense	probably benign	0.22

Posted On

2016-08-02