Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01088:Igkv4-79'

51282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-79

Ensembl Gene

ENSMUSG00000076541

Gene Name

immunoglobulin kappa variable 4-79

Synonyms

LOC213684, IgVk ae4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01088

Quality Score

Status

Chromosome

Chromosomal Location

69019956-69020489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69020110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 68 (K68N)

Ref Sequence

ENSEMBL: ENSMUSP00000100143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103342]

AlphaFold

A0A075B5L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000103342
AA Change: K68N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100143
Gene: ENSMUSG00000076541
AA Change: K68N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	113	1.3e-21	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
Actr6	C	T	10: 89,561,703 (GRCm39)	V148I	probably damaging	Het
Aspn	G	T	13: 49,720,029 (GRCm39)	K348N	probably benign	Het
C1qtnf9	T	C	14: 61,017,205 (GRCm39)	V245A	probably benign	Het
Cfhr4	T	C	1: 139,625,823 (GRCm39)		probably benign	Het
Chd4	T	C	6: 125,099,431 (GRCm39)		probably benign	Het
Clcn3	A	T	8: 61,390,381 (GRCm39)	C187S	probably damaging	Het
Dcxr	T	C	11: 120,616,993 (GRCm39)	I123M	possibly damaging	Het
Fstl1	T	C	16: 37,647,175 (GRCm39)	Y182H	probably damaging	Het
Ghrhr	T	C	6: 55,356,178 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,228,627 (GRCm39)	E1176G	probably damaging	Het
H2-T22	A	G	17: 36,352,811 (GRCm39)	S99P	probably damaging	Het
Kpna6	C	T	4: 129,549,276 (GRCm39)	V169I	probably damaging	Het
Krit1	G	T	5: 3,862,844 (GRCm39)	V278F	probably damaging	Het
Mrpl4	T	C	9: 20,914,627 (GRCm39)	S68P	probably damaging	Het
Mylk3	A	C	8: 86,078,586 (GRCm39)		probably null	Het
Nfasc	A	T	1: 132,570,514 (GRCm39)		probably benign	Het
Ntsr1	T	C	2: 180,184,335 (GRCm39)	F346S	probably damaging	Het
Or10ak11	A	G	4: 118,686,989 (GRCm39)	V216A	probably benign	Het
Or5b107	T	C	19: 13,142,735 (GRCm39)	M119T	probably damaging	Het
Phox2a	T	C	7: 101,470,942 (GRCm39)	F145L	probably damaging	Het
Rbm7	A	G	9: 48,402,149 (GRCm39)	V146A	probably damaging	Het
Sall3	A	T	18: 81,016,447 (GRCm39)	Y494N	probably damaging	Het
Ssbp1	T	A	6: 40,455,004 (GRCm39)		probably benign	Het
Stard7	T	C	2: 127,112,746 (GRCm39)	L4P	probably damaging	Het
Stk-ps2	A	T	1: 46,069,010 (GRCm39)		noncoding transcript	Het
Tmem67	G	A	4: 12,063,126 (GRCm39)	R507C	probably damaging	Het
Unc13c	A	T	9: 73,839,563 (GRCm39)	D429E	possibly damaging	Het
Unc93b1	A	G	19: 3,985,356 (GRCm39)		probably null	Het
Vmn1r171	T	C	7: 23,332,252 (GRCm39)	V159A	probably damaging	Het
Zfp608	T	C	18: 55,031,159 (GRCm39)	E927G	probably benign	Het
Zfp820	T	A	17: 22,040,162 (GRCm39)	K16*	probably null	Het
Zgrf1	T	C	3: 127,381,790 (GRCm39)		probably benign	Het

Other mutations in Igkv4-79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03212:Igkv4-79	APN	6	69,020,214 (GRCm39)	missense	probably benign	0.00
R3954:Igkv4-79	UTSW	6	69,020,229 (GRCm39)	missense	possibly damaging	0.92
R5048:Igkv4-79	UTSW	6	69,019,971 (GRCm39)	missense	probably benign	0.00
R6834:Igkv4-79	UTSW	6	69,020,256 (GRCm39)	missense	probably damaging	0.99
R9795:Igkv4-79	UTSW	6	69,020,169 (GRCm39)	missense	probably damaging	0.99
Z1177:Igkv4-79	UTSW	6	69,020,043 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21