Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03128:Igkv4-70'

410206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-70

Ensembl Gene

ENSMUSG00000076547

Gene Name

immunoglobulin kappa chain variable 4-70

Synonyms

LOC385120, Gm1502

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03128

Quality Score

Status

Chromosome

Chromosomal Location

69244872-69245396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69244998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 74 (K74N)

Ref Sequence

ENSEMBL: ENSMUSP00000100149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103348]

AlphaFold

A0A0B4J1I5

Predicted Effect

probably benign
Transcript: ENSMUST00000103348
AA Change: K74N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100149
Gene: ENSMUSG00000076547
AA Change: K74N

Domain	Start	End	E-Value	Type
IGv	40	111	6.19e-18	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,072,829 (GRCm39)	L114M	probably damaging	Het
Bahcc1	G	A	11: 120,159,260 (GRCm39)		probably benign	Het
Btrc	T	A	19: 45,501,959 (GRCm39)	I226N	probably damaging	Het
Cth	C	T	3: 157,626,672 (GRCm39)	G56D	probably damaging	Het
Dkk2	T	C	3: 131,883,621 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,909,491 (GRCm39)	M271K	probably benign	Het
Fam78b	T	A	1: 166,906,510 (GRCm39)	L223Q	probably damaging	Het
Fgl2	A	T	5: 21,578,291 (GRCm39)	M193L	probably benign	Het
Ifi205	A	T	1: 173,842,652 (GRCm39)	V348E	probably damaging	Het
Kdm3b	A	T	18: 34,960,480 (GRCm39)	K1355M	probably damaging	Het
Ltn1	A	T	16: 87,212,832 (GRCm39)	N576K	probably benign	Het
Ms4a4c	A	T	19: 11,395,005 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,242,025 (GRCm39)	T328A	probably benign	Het
Npat	T	A	9: 53,461,333 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,230,798 (GRCm39)	I524V	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Pappa2	C	T	1: 158,764,054 (GRCm39)	E486K	probably benign	Het
Pde9a	C	T	17: 31,678,884 (GRCm39)	H216Y	possibly damaging	Het
Polr2k	C	A	15: 36,174,337 (GRCm39)	P31Q	probably damaging	Het
Prkdc	G	T	16: 15,518,608 (GRCm39)		probably benign	Het
Raver1	A	T	9: 20,992,038 (GRCm39)	L385Q	probably damaging	Het
Slc10a7	C	A	8: 79,251,846 (GRCm39)	T80K	probably damaging	Het
Smg1	T	C	7: 117,802,282 (GRCm39)	K272R	probably benign	Het
Supt20	A	G	3: 54,615,708 (GRCm39)	I200V	probably benign	Het
Tbc1d9	A	G	8: 83,892,714 (GRCm39)	N4S	probably benign	Het
Tor1aip1	A	G	1: 155,882,781 (GRCm39)	S356P	probably damaging	Het
Trpm3	A	G	19: 22,891,829 (GRCm39)	Y903C	probably damaging	Het
Vmn2r71	T	G	7: 85,268,795 (GRCm39)	F333V	probably damaging	Het

Other mutations in Igkv4-70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Igkv4-70	APN	6	69,245,075 (GRCm39)	missense	probably damaging	0.98
IGL02047:Igkv4-70	APN	6	69,244,911 (GRCm39)	missense	probably damaging	0.99
BB008:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00
BB018:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00
R5139:Igkv4-70	UTSW	6	69,245,089 (GRCm39)	missense	probably damaging	0.99
R6736:Igkv4-70	UTSW	6	69,244,912 (GRCm39)	missense	probably damaging	1.00
R7931:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02