Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03099:Igkv4-71'

418653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-71

Ensembl Gene

ENSMUSG00000073028

Gene Name

immunoglobulin kappa chain variable 4-71

Synonyms

Gm16730

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL03099

Quality Score

Status

Chromosome

Chromosomal Location

69220144-69220672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69220399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 11 (M11V)

Ref Sequence

ENSEMBL: ENSMUSP00000100575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101325] [ENSMUST00000196201]

AlphaFold

L7N239

Predicted Effect

probably benign
Transcript: ENSMUST00000101325
AA Change: M11V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100575
Gene: ENSMUSG00000073028
AA Change: M11V

Domain	Start	End	E-Value	Type
IGv	18	89	2.98e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196201
AA Change: M33V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142768
Gene: ENSMUSG00000073028
AA Change: M33V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	1.2e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	A	1: 87,055,328 (GRCm39)	F458L	probably benign	Het
Alpi	A	G	1: 87,026,353 (GRCm39)	L546P	unknown	Het
Arpc5l	A	G	2: 38,903,844 (GRCm39)	Y111C	probably damaging	Het
Atp11a	T	C	8: 12,877,462 (GRCm39)	F296S	possibly damaging	Het
Bbof1	C	T	12: 84,473,539 (GRCm39)	Q290*	probably null	Het
Brinp3	A	T	1: 146,777,835 (GRCm39)	T761S	possibly damaging	Het
Cyp2j6	A	T	4: 96,424,328 (GRCm39)	M143K	possibly damaging	Het
Daw1	T	C	1: 83,157,088 (GRCm39)		probably null	Het
Dst	A	G	1: 34,314,862 (GRCm39)	N6498D	probably damaging	Het
Fbxo15	T	C	18: 84,999,338 (GRCm39)	L380P	possibly damaging	Het
Glce	A	T	9: 61,967,344 (GRCm39)	F602L	probably benign	Het
Gpatch1	A	G	7: 34,996,948 (GRCm39)	S417P	possibly damaging	Het
Hjurp	T	C	1: 88,194,011 (GRCm39)	K223R	probably benign	Het
Hnrnpm	C	T	17: 33,888,146 (GRCm39)	C113Y	probably damaging	Het
Insr	G	T	8: 3,308,715 (GRCm39)	T107K	probably damaging	Het
Mdm4	G	A	1: 132,919,947 (GRCm39)	T306M	probably damaging	Het
Nek11	T	C	9: 105,164,852 (GRCm39)	I425V	probably benign	Het
Otop3	T	A	11: 115,230,408 (GRCm39)	V95E	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snx10	T	A	6: 51,556,840 (GRCm39)	M41K	possibly damaging	Het
Sos2	T	A	12: 69,663,133 (GRCm39)	N588Y	probably damaging	Het
Srrm3	C	A	5: 135,898,152 (GRCm39)		probably benign	Het
Tbc1d19	G	T	5: 54,040,997 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,448 (GRCm39)	K612*	probably null	Het

Other mutations in Igkv4-71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Igkv4-71	APN	6	69,220,264 (GRCm39)	nonsense	probably null
IGL02293:Igkv4-71	APN	6	69,220,306 (GRCm39)	missense	possibly damaging	0.88
R0501:Igkv4-71	UTSW	6	69,220,290 (GRCm39)	missense	probably damaging	1.00
R0556:Igkv4-71	UTSW	6	69,220,171 (GRCm39)	missense	probably damaging	1.00
R0675:Igkv4-71	UTSW	6	69,220,411 (GRCm39)	missense	probably damaging	1.00
R8354:Igkv4-71	UTSW	6	69,220,260 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02