Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02047:Igkv4-70'

184958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-70

Ensembl Gene

ENSMUSG00000076547

Gene Name

immunoglobulin kappa chain variable 4-70

Synonyms

LOC385120, Gm1502

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02047

Quality Score

Status

Chromosome

Chromosomal Location

69244872-69245396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69244911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 103 (D103E)

Ref Sequence

ENSEMBL: ENSMUSP00000100149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103348]

AlphaFold

A0A0B4J1I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103348
AA Change: D103E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100149
Gene: ENSMUSG00000076547
AA Change: D103E

Domain	Start	End	E-Value	Type
IGv	40	111	6.19e-18	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	T	6: 92,808,909 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,728,324 (GRCm39)	N681S	possibly damaging	Het
Arpp19	T	G	9: 74,964,058 (GRCm39)	S137A	probably damaging	Het
Bmp2	T	C	2: 133,402,896 (GRCm39)	L149P	probably damaging	Het
Bpifb1	T	C	2: 154,044,536 (GRCm39)	M1T	probably null	Het
Btbd7	T	C	12: 102,760,038 (GRCm39)	S637G	probably benign	Het
Cyp51	T	A	5: 4,149,244 (GRCm39)	H211L	possibly damaging	Het
Cyth1	C	A	11: 118,059,958 (GRCm39)	Q333H	probably damaging	Het
Dennd5a	G	A	7: 109,533,991 (GRCm39)	T67M	possibly damaging	Het
Dse	A	T	10: 34,038,841 (GRCm39)	Y51*	probably null	Het
Dynlt3	A	T	X: 9,522,665 (GRCm39)	Y76*	probably null	Het
Fabp12	T	C	3: 10,312,778 (GRCm39)		probably benign	Het
Galr1	A	T	18: 82,424,118 (GRCm39)	L53Q	probably damaging	Het
Il2	T	C	3: 37,180,000 (GRCm39)	N19S	probably benign	Het
Jhy	T	C	9: 40,828,476 (GRCm39)	I477V	probably benign	Het
Kcnk4	A	G	19: 6,903,626 (GRCm39)	S308P	probably benign	Het
Lipo3	A	T	19: 33,534,562 (GRCm39)	I299K	probably benign	Het
Mark3	T	A	12: 111,584,797 (GRCm39)	I131N	probably damaging	Het
Msr1	A	G	8: 40,077,001 (GRCm39)	V137A	probably benign	Het
Nf1	T	A	11: 79,316,361 (GRCm39)	V482E	probably benign	Het
Pcsk1	T	C	13: 75,246,108 (GRCm39)	V162A	probably benign	Het
Phf8-ps	C	T	17: 33,286,275 (GRCm39)	V176M	probably damaging	Het
Plekhb1	A	G	7: 100,304,506 (GRCm39)	V47A	probably damaging	Het
R3hcc1l	G	A	19: 42,552,258 (GRCm39)	M418I	probably benign	Het
Slc24a4	T	C	12: 102,220,882 (GRCm39)	F438L	probably damaging	Het
Slc38a5	G	T	X: 8,139,879 (GRCm39)	V127L	possibly damaging	Het
Szt2	A	G	4: 118,233,834 (GRCm39)		probably benign	Het
Tdh	A	T	14: 63,734,407 (GRCm39)	H80Q	probably benign	Het
Tshz3	A	C	7: 36,469,893 (GRCm39)	K627N	probably damaging	Het
Usp28	C	T	9: 48,946,941 (GRCm39)	P791S	probably damaging	Het
Wdr81	A	G	11: 75,336,332 (GRCm39)	Y1686H	probably damaging	Het
Xpot	G	T	10: 121,437,267 (GRCm39)		probably benign	Het
Zfand4	G	A	6: 116,291,889 (GRCm39)	G627R	probably damaging	Het

Other mutations in Igkv4-70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Igkv4-70	APN	6	69,245,075 (GRCm39)	missense	probably damaging	0.98
IGL03128:Igkv4-70	APN	6	69,244,998 (GRCm39)	missense	probably benign
BB008:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00
BB018:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00
R5139:Igkv4-70	UTSW	6	69,245,089 (GRCm39)	missense	probably damaging	0.99
R6736:Igkv4-70	UTSW	6	69,244,912 (GRCm39)	missense	probably damaging	1.00
R7931:Igkv4-70	UTSW	6	69,244,975 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07