Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03093:Igkv9-120'

418442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv9-120

Ensembl Gene

ENSMUSG00000094872

Gene Name

immunoglobulin kappa chain variable 9-120

Synonyms

Gm5571

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

68026967-68027438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68027398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

Ref Sequence

ENSEMBL: ENSMUSP00000100117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103316]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000103316
AA Change: D104G

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

SMART Domains

Protein: ENSMUSP00000100117
Gene: ENSMUSG00000094872
AA Change: D104G

Domain	Start	End	E-Value	Type
IGv	40	112	9.99e-13	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,219,638 (GRCm39)	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,043,802 (GRCm39)	D1380G	probably benign	Het
Clca3a1	T	C	3: 144,453,262 (GRCm39)	Y487C	probably damaging	Het
Coro2a	A	G	4: 46,544,158 (GRCm39)	S278P	possibly damaging	Het
Creb3l3	A	G	10: 80,927,047 (GRCm39)	S128P	probably benign	Het
Dab2	A	G	15: 6,465,892 (GRCm39)	R697G	probably damaging	Het
Erap1	T	C	13: 74,823,399 (GRCm39)	F811S	probably benign	Het
Fam170b	A	G	14: 32,557,482 (GRCm39)	S106G	probably damaging	Het
Galk2	T	C	2: 125,771,563 (GRCm39)	L196P	probably damaging	Het
Gan	T	C	8: 117,910,314 (GRCm39)	M81T	probably benign	Het
Gemin2	A	G	12: 59,068,511 (GRCm39)	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504 (GRCm39)	M244K	probably benign	Het
Htr6	A	G	4: 138,789,080 (GRCm39)	F325S	probably damaging	Het
Itpr2	A	C	6: 146,281,008 (GRCm39)	I216S	probably damaging	Het
Lingo1	T	C	9: 56,526,748 (GRCm39)	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,226,710 (GRCm39)	T524M	probably benign	Het
Mtif2	A	G	11: 29,480,702 (GRCm39)		probably benign	Het
Mylk	G	A	16: 34,732,562 (GRCm39)	R614H	possibly damaging	Het
Or2ag2	T	C	7: 106,485,410 (GRCm39)	T205A	probably benign	Het
Or52s19	T	C	7: 103,007,446 (GRCm39)		probably benign	Het
Pabpc4	G	A	4: 123,180,502 (GRCm39)	D75N	probably damaging	Het
Paics	T	A	5: 77,109,355 (GRCm39)		probably null	Het
Prl	T	A	13: 27,248,870 (GRCm39)	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056 (GRCm39)	S168P	probably damaging	Het
Siglecf	T	C	7: 43,001,865 (GRCm39)	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,110,430 (GRCm39)	I86V	probably benign	Het
Slc6a13	A	G	6: 121,309,407 (GRCm39)	Y306C	probably damaging	Het
Soat2	T	A	15: 102,066,078 (GRCm39)	L250Q	probably damaging	Het
Tex38	A	G	4: 115,637,762 (GRCm39)	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,268,921 (GRCm39)	C59S	possibly damaging	Het
Tmco1	A	G	1: 167,143,848 (GRCm39)	D82G	probably damaging	Het
Tmem245	G	A	4: 56,886,019 (GRCm39)	R866W	probably damaging	Het
Tnip1	G	T	11: 54,831,652 (GRCm39)	Y7*	probably null	Het
Trp73	A	G	4: 154,189,330 (GRCm39)	M48T	probably benign	Het
Tslp	T	C	18: 32,948,612 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,688,827 (GRCm39)	F745L	probably damaging	Het
Vmn2r53	T	A	7: 12,334,791 (GRCm39)	T290S	probably benign	Het
Wdr1	T	C	5: 38,718,472 (GRCm39)	D30G	probably benign	Het
Zkscan2	T	C	7: 123,094,073 (GRCm39)	Y247C	probably benign	Het

Other mutations in Igkv9-120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Igkv9-120	APN	6	68,026,971 (GRCm39)	missense	possibly damaging	0.67
IGL02248:Igkv9-120	APN	6	68,027,221 (GRCm39)	missense	probably damaging	1.00
IGL02410:Igkv9-120	APN	6	68,027,027 (GRCm39)	splice site	probably benign
R2847:Igkv9-120	UTSW	6	68,027,128 (GRCm39)	splice site	probably benign
R2848:Igkv9-120	UTSW	6	68,027,128 (GRCm39)	splice site	probably benign
R3749:Igkv9-120	UTSW	6	68,026,985 (GRCm39)	missense	probably benign	0.04
R3889:Igkv9-120	UTSW	6	68,027,362 (GRCm39)	missense	probably damaging	1.00
R4235:Igkv9-120	UTSW	6	68,027,317 (GRCm39)	missense	probably benign
R4270:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4760:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4767:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4768:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4769:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R5365:Igkv9-120	UTSW	6	68,027,433 (GRCm39)	missense	probably benign	0.00
R5671:Igkv9-120	UTSW	6	68,027,257 (GRCm39)	nonsense	probably null
R7749:Igkv9-120	UTSW	6	68,027,172 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02