Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02627:Igkv3-2'

301126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv3-2

Ensembl Gene

ENSMUSG00000095351

Gene Name

immunoglobulin kappa variable 3-2

Synonyms

V(kappa)21A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL02627

Quality Score

Status

Chromosome

Chromosomal Location

70675452-70676051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70675810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 40 (T40S)

Ref Sequence

ENSEMBL: ENSMUSP00000100204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103403] [ENSMUST00000103404]

AlphaFold

A0A075B5P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103403
AA Change: T40S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: T40S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	5.39e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103404

SMART Domains

Protein: ENSMUSP00000100205
Gene: ENSMUSG00000095682

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	3.96e-16	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
1700001O22Rik	T	A	2: 30,685,777 (GRCm39)	K353M	probably damaging	Het
Arhgap32	T	C	9: 32,157,302 (GRCm39)	Y100H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap418	G	A	4: 10,898,039 (GRCm39)	C207Y	probably damaging	Het
Ckap5	A	T	2: 91,406,366 (GRCm39)	N752I	probably damaging	Het
Dgkz	T	A	2: 91,769,055 (GRCm39)		probably benign	Het
Egfr	T	A	11: 16,819,346 (GRCm39)	V292E	probably damaging	Het
Gnb3	T	C	6: 124,811,678 (GRCm39)	T329A	probably damaging	Het
Kcnq2	T	C	2: 180,724,120 (GRCm39)		probably benign	Het
Mbip	T	C	12: 56,382,590 (GRCm39)	Q292R	probably benign	Het
Mgat5b	T	C	11: 116,874,442 (GRCm39)	Y625H	probably damaging	Het
Ms4a4d	A	T	19: 11,525,987 (GRCm39)	E40D	probably damaging	Het
Naip1	T	C	13: 100,562,156 (GRCm39)	E1003G	possibly damaging	Het
Ncf2	G	A	1: 152,686,759 (GRCm39)		probably benign	Het
Nfkbiz	A	G	16: 55,636,714 (GRCm39)	V529A	probably damaging	Het
Osr2	A	G	15: 35,300,600 (GRCm39)	N52S	possibly damaging	Het
Prag1	A	G	8: 36,606,593 (GRCm39)	D778G	possibly damaging	Het
Rsl1d1	G	T	16: 11,012,415 (GRCm39)	A337E	possibly damaging	Het
Sall3	A	T	18: 81,015,576 (GRCm39)	L784Q	possibly damaging	Het
Spen	A	G	4: 141,200,326 (GRCm39)	I2744T	probably damaging	Het
Tfip11	A	C	5: 112,477,679 (GRCm39)	S145R	possibly damaging	Het
Tonsl	T	C	15: 76,518,295 (GRCm39)	D559G	probably damaging	Het
Trmt5	A	T	12: 73,328,229 (GRCm39)	S325T	probably damaging	Het
Ubr1	A	T	2: 120,771,472 (GRCm39)	V472D	probably damaging	Het
Vmn1r30	T	A	6: 58,412,746 (GRCm39)	T29S	probably benign	Het
Vps29	T	C	5: 122,500,908 (GRCm39)	S158P	probably benign	Het
Wdr82	T	C	9: 106,053,886 (GRCm39)	V79A	possibly damaging	Het
Wfdc16	T	A	2: 164,480,383 (GRCm39)	E37D	possibly damaging	Het

Other mutations in Igkv3-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Igkv3-2	APN	6	70,675,978 (GRCm39)	missense	probably damaging	0.98
IGL02352:Igkv3-2	APN	6	70,675,474 (GRCm39)	missense	probably damaging	0.96
IGL02359:Igkv3-2	APN	6	70,675,474 (GRCm39)	missense	probably damaging	0.96
R3714:Igkv3-2	UTSW	6	70,675,480 (GRCm39)	missense	possibly damaging	0.66
R4255:Igkv3-2	UTSW	6	70,676,045 (GRCm39)	missense	probably benign	0.00
R4449:Igkv3-2	UTSW	6	70,675,825 (GRCm39)	missense	probably benign	0.11
R4663:Igkv3-2	UTSW	6	70,675,863 (GRCm39)	missense	probably benign	0.02
R5361:Igkv3-2	UTSW	6	70,676,011 (GRCm39)	missense	probably benign	0.01
R6347:Igkv3-2	UTSW	6	70,676,017 (GRCm39)	missense	probably benign	0.01
R6466:Igkv3-2	UTSW	6	70,676,023 (GRCm39)	missense	probably benign	0.15
R6761:Igkv3-2	UTSW	6	70,675,501 (GRCm39)	critical splice donor site	probably benign
R6874:Igkv3-2	UTSW	6	70,675,822 (GRCm39)	nonsense	probably null
R8050:Igkv3-2	UTSW	6	70,675,988 (GRCm39)	missense	probably damaging	1.00
Z1177:Igkv3-2	UTSW	6	70,676,030 (GRCm39)	missense	probably benign	0.05
Z1177:Igkv3-2	UTSW	6	70,675,999 (GRCm39)	nonsense	probably null

Posted On

2015-04-16