Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00594:Igkv3-7'

332744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv3-7

Ensembl Gene

ENSMUSG00000076598

Gene Name

immunoglobulin kappa variable 3-7

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

IGL00594

Quality Score

Status

Chromosome

Chromosomal Location

70584421-70585020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70584807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 49 (V49A)

Ref Sequence

ENSEMBL: ENSMUSP00000142610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103399] [ENSMUST00000197560]

AlphaFold

A0A075B5N9

Predicted Effect

probably benign
Transcript: ENSMUST00000103399
AA Change: V29A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100200
Gene: ENSMUSG00000076598
AA Change: V29A

Domain	Start	End	E-Value	Type
IGv	18	94	9.17e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197560
AA Change: V49A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142610
Gene: ENSMUSG00000076598
AA Change: V49A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	3.8e-23	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,109 (GRCm39)	T154A	probably benign	Het
Acox1	A	G	11: 116,065,331 (GRCm39)		probably benign	Het
Adgrg2	G	A	X: 159,268,773 (GRCm39)	V677I	probably benign	Het
Aifm1	T	C	X: 47,570,976 (GRCm39)	T386A	probably benign	Het
Aspm	T	C	1: 139,415,160 (GRCm39)		probably benign	Het
Fgfr2	A	G	7: 129,830,453 (GRCm39)	V175A	probably damaging	Het
Gm382	T	C	X: 125,970,775 (GRCm39)	Y987H	probably benign	Het
Golga3	A	T	5: 110,352,841 (GRCm39)	M911L	probably benign	Het
Hmgxb3	A	G	18: 61,290,811 (GRCm39)	V354A	probably benign	Het
Ifne	T	C	4: 88,798,041 (GRCm39)	N126D	probably benign	Het
Kbtbd8	A	T	6: 95,103,494 (GRCm39)	Y381F	probably damaging	Het
Klc1	C	T	12: 111,743,318 (GRCm39)	T215M	probably damaging	Het
Lrp2	A	T	2: 69,316,624 (GRCm39)	V2119E	probably benign	Het
Lrrc7	A	G	3: 157,892,647 (GRCm39)	V322A	probably benign	Het
Mageb5b	C	T	X: 90,679,091 (GRCm39)	Q348*	probably null	Het
Ms4a14	A	G	19: 11,278,983 (GRCm39)	S1192P	possibly damaging	Het
Ndufaf6	T	C	4: 11,062,127 (GRCm39)	Y168C	probably damaging	Het
Plcg2	C	T	8: 118,282,810 (GRCm39)	T97I	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,966 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,083,777 (GRCm39)	H515R	probably benign	Het
Rpn1	G	T	6: 88,072,611 (GRCm39)	R318L	probably damaging	Het
Shroom2	A	T	X: 151,396,512 (GRCm39)	F1359Y	probably damaging	Het
Tars3	T	A	7: 65,325,880 (GRCm39)		probably null	Het
Tbc1d12	A	G	19: 38,884,487 (GRCm39)	E346G	possibly damaging	Het
Tbccd1	A	G	16: 22,641,294 (GRCm39)	F361S	possibly damaging	Het
Tenm1	G	T	X: 41,803,913 (GRCm39)	P837T	probably benign	Het
Tmem144	A	G	3: 79,746,474 (GRCm39)	V27A	probably benign	Het
Zfp616	T	A	11: 73,973,789 (GRCm39)	N19K	possibly damaging	Het
Zkscan7	T	C	9: 122,724,659 (GRCm39)	Y543H	possibly damaging	Het

Other mutations in Igkv3-7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4116:Igkv3-7	UTSW	6	70,584,923 (GRCm39)	missense	probably damaging	1.00
R5582:Igkv3-7	UTSW	6	70,584,990 (GRCm39)	missense	probably damaging	1.00
R6705:Igkv3-7	UTSW	6	70,585,004 (GRCm39)	missense	probably benign	0.04
R8383:Igkv3-7	UTSW	6	70,584,734 (GRCm39)	missense	probably damaging	1.00
R8837:Igkv3-7	UTSW	6	70,584,942 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-08-05