Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02098:Igkv6-25'

279683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv6-25

Ensembl Gene

ENSMUSG00000094930

Gene Name

immunoglobulin kappa chain variable 6-25

Synonyms

Gm16943

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL02098

Quality Score

Status

Chromosome

Chromosomal Location

70192417-70192941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70192719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 42 (T42I)

Ref Sequence

ENSEMBL: ENSMUSP00000100184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103383] [ENSMUST00000103384]

AlphaFold

A0A140T8N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103383
AA Change: T42I

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

SMART Domains

Protein: ENSMUSP00000100184
Gene: ENSMUSG00000094930
AA Change: T42I

Domain	Start	End	E-Value	Type
IGv	38	110	3.24e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103384

SMART Domains

Protein: ENSMUSP00000100185
Gene: ENSMUSG00000076583

Domain	Start	End	E-Value	Type
IGv	38	116	1.21e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196786

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
Adam25	C	T	8: 41,208,680 (GRCm39)	P649S	probably benign	Het
Ano3	T	A	2: 110,496,786 (GRCm39)	R788*	probably null	Het
Ccdc18	A	G	5: 108,349,977 (GRCm39)	E1043G	probably damaging	Het
Chd3	A	T	11: 69,250,655 (GRCm39)	H691Q	probably damaging	Het
Cts7	G	T	13: 61,504,343 (GRCm39)	F73L	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Eef1a2	G	T	2: 180,794,582 (GRCm39)	P206T	probably benign	Het
Gcsh	G	T	8: 117,715,875 (GRCm39)	S69R	probably damaging	Het
Gm9989	T	A	3: 81,829,528 (GRCm39)		noncoding transcript	Het
Iqca1	T	C	1: 89,975,663 (GRCm39)	Y684C	probably damaging	Het
Kif6	G	A	17: 50,177,922 (GRCm39)	G602D	probably benign	Het
Klb	C	A	5: 65,537,228 (GRCm39)	R853S	probably benign	Het
Mad1l1	A	C	5: 140,296,344 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,655,768 (GRCm39)	N1077D	probably damaging	Het
Med12l	T	A	3: 59,183,276 (GRCm39)	S1858T	possibly damaging	Het
Ncapg2	A	G	12: 116,407,952 (GRCm39)	E984G	possibly damaging	Het
Necab1	T	A	4: 14,955,892 (GRCm39)		probably benign	Het
Nexn	G	A	3: 151,949,540 (GRCm39)	R253*	probably null	Het
Npc1l1	A	G	11: 6,164,581 (GRCm39)	L1156P	probably damaging	Het
Or2y1	T	A	11: 49,386,224 (GRCm39)	I288N	probably damaging	Het
Or5ac15	A	T	16: 58,940,433 (GRCm39)		probably benign	Het
Or5b99	A	G	19: 12,976,937 (GRCm39)	I196V	probably benign	Het
Or8g17	A	G	9: 38,930,187 (GRCm39)	S217P	probably damaging	Het
Pramel25	T	A	4: 143,520,248 (GRCm39)		probably null	Het
Rassf7	T	C	7: 140,798,203 (GRCm39)	S381P	possibly damaging	Het
Rdh7	G	T	10: 127,720,607 (GRCm39)	T255K	probably benign	Het
Scn10a	T	A	9: 119,520,544 (GRCm39)	I119F	possibly damaging	Het
Slc15a3	T	A	19: 10,826,042 (GRCm39)	F244L	probably damaging	Het
Syde1	T	C	10: 78,425,205 (GRCm39)	S269G	probably damaging	Het
Teddm2	C	T	1: 153,726,081 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,729,611 (GRCm39)	D1465G	possibly damaging	Het
Zkscan2	A	T	7: 123,099,064 (GRCm39)	S43T	probably benign	Het

Other mutations in Igkv6-25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Igkv6-25	APN	6	70,192,772 (GRCm39)	missense	possibly damaging	0.93
IGL02929:Igkv6-25	APN	6	70,192,929 (GRCm39)	missense	probably damaging	1.00
R4399:Igkv6-25	UTSW	6	70,192,694 (GRCm39)	missense	possibly damaging	0.70
R5030:Igkv6-25	UTSW	6	70,192,426 (GRCm39)	nonsense	probably null
R7161:Igkv6-25	UTSW	6	70,192,762 (GRCm39)	nonsense	probably null
RF003:Igkv6-25	UTSW	6	70,192,762 (GRCm39)	nonsense	probably null
RF004:Igkv6-25	UTSW	6	70,192,647 (GRCm39)	frame shift	probably null

Posted On

2015-04-16