Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01096:Igkv9-123'

51301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv9-123

Ensembl Gene

ENSMUSG00000076512

Gene Name

immunoglobulin kappa variable 9-123

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01096

Quality Score

Status

Chromosome

Chromosomal Location

67931214-67931674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67931449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 39 (D39G)

Ref Sequence

ENSEMBL: ENSMUSP00000100114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103313]

AlphaFold

A0A140T8N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103313
AA Change: D39G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100114
Gene: ENSMUSG00000076512
AA Change: D39G

Domain	Start	End	E-Value	Type
IGv	40	112	2.16e-17	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Alk	T	C	17: 72,228,891 (GRCm39)	K725E	possibly damaging	Het
Castor1	A	C	11: 4,171,850 (GRCm39)	E309A	probably damaging	Het
Dspp	T	A	5: 104,323,233 (GRCm39)	H125Q	possibly damaging	Het
Elmo2	A	T	2: 165,138,907 (GRCm39)		probably benign	Het
Erg	A	G	16: 95,190,912 (GRCm39)		probably benign	Het
Fam20c	A	G	5: 138,794,910 (GRCm39)	E513G	possibly damaging	Het
Gm9839	G	T	1: 32,559,917 (GRCm39)	T55N	possibly damaging	Het
Gpd2	A	T	2: 57,228,879 (GRCm39)	M228L	probably damaging	Het
Hp	A	T	8: 110,302,033 (GRCm39)	M305K	probably benign	Het
Ifng	T	A	10: 118,281,174 (GRCm39)		probably benign	Het
Melk	T	A	4: 44,347,262 (GRCm39)	F431I	probably benign	Het
Or10ak12	A	G	4: 118,666,653 (GRCm39)	V136A	probably damaging	Het
Or12j5	A	T	7: 140,084,097 (GRCm39)	S92T	probably damaging	Het
Or4p19	A	G	2: 88,242,135 (GRCm39)	M289T	probably damaging	Het
Or51k1	A	C	7: 103,661,321 (GRCm39)	L196W	probably damaging	Het
Or8g27	G	A	9: 39,129,412 (GRCm39)	G253D	probably damaging	Het
Pappa	T	C	4: 65,107,553 (GRCm39)	Y655H	probably damaging	Het
Prss58	A	T	6: 40,872,399 (GRCm39)	I208N	probably damaging	Het
Ryr2	T	A	13: 11,718,430 (GRCm39)	I2720F	probably damaging	Het
Slc13a1	G	T	6: 24,104,076 (GRCm39)	T322K	probably damaging	Het
Spag17	T	C	3: 99,970,691 (GRCm39)	F1292L	probably benign	Het
Tbx5	A	G	5: 120,021,091 (GRCm39)	T366A	probably benign	Het
Tmeff2	G	A	1: 50,969,705 (GRCm39)		probably benign	Het
Tmem101	C	A	11: 102,045,378 (GRCm39)		probably null	Het
Tpp2	C	A	1: 44,000,048 (GRCm39)	P389T	probably damaging	Het
Tyk2	A	G	9: 21,020,159 (GRCm39)	Y1000H	probably damaging	Het
Ush2a	C	A	1: 188,410,574 (GRCm39)	N2407K	probably damaging	Het
Vmn1r94	C	T	7: 19,901,561 (GRCm39)	V248I	probably damaging	Het
Vmn2r12	T	A	5: 109,234,125 (GRCm39)	I696F	probably damaging	Het
Vmn2r83	A	G	10: 79,313,662 (GRCm39)	E90G	probably damaging	Het
Washc5	T	C	15: 59,222,060 (GRCm39)		probably benign	Het
Wee2	A	G	6: 40,440,187 (GRCm39)	E445G	probably benign	Het
Zfp518b	T	C	5: 38,830,131 (GRCm39)	T625A	probably benign	Het

Other mutations in Igkv9-123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Igkv9-123	APN	6	67,931,518 (GRCm39)	splice site	probably benign
IGL02934:Igkv9-123	APN	6	67,931,380 (GRCm39)	missense	possibly damaging	0.80
R7329:Igkv9-123	UTSW	6	67,931,629 (GRCm39)	missense	possibly damaging	0.68
R7530:Igkv9-123	UTSW	6	67,931,381 (GRCm39)	missense	possibly damaging	0.95
R9397:Igkv9-123	UTSW	6	67,931,443 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21