Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02352:Igkv3-2'

289510

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

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

70698468-70699067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70698490 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 8 (L8P)

Ref Sequence

ENSEMBL: ENSMUSP00000100204 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103403
AA Change: L8P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: L8P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,895,055		probably null	Het
Abca5	T	A	11: 110,275,330	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,343,728		probably null	Het
Aldh2	T	C	5: 121,575,897	E128G	probably null	Het
Anln	A	G	9: 22,368,412	V494A	probably benign	Het
Ano3	A	T	2: 110,884,943	L50*	probably null	Het
Atp13a3	A	G	16: 30,351,084	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,108,334	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,093,252		probably benign	Het
Ccdc150	G	A	1: 54,272,521	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,916,177	I9N	probably damaging	Het
Cmip	A	T	8: 117,411,255		probably benign	Het
Cyp21a1	A	G	17: 34,804,222	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,393,920	W10R	possibly damaging	Het
Dock10	A	G	1: 80,505,661	Y2076H	probably damaging	Het
Egflam	T	C	15: 7,234,225	N748S	probably benign	Het
Fam227b	A	G	2: 126,146,254		probably benign	Het
Fancd2	T	A	6: 113,563,112	I654N	probably damaging	Het
Gm17018	G	T	19: 45,577,054	A156S	probably benign	Het
Gm17727	A	T	9: 35,777,884	M1K	probably null	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Hrh1	C	A	6: 114,480,443	N228K	probably benign	Het
Iqgap3	T	C	3: 88,101,960	F734L	probably benign	Het
Kif5a	T	C	10: 127,243,501	Y276C	probably damaging	Het
Lax1	A	T	1: 133,680,470	S178T	possibly damaging	Het
March6	C	T	15: 31,509,759	C28Y	probably damaging	Het
Mylk3	T	C	8: 85,355,302	T356A	probably benign	Het
Obscn	T	C	11: 59,001,027	E6893G	probably benign	Het
Olfr166	T	C	16: 19,487,177	L113P	probably damaging	Het
Pgap2	G	T	7: 102,236,139	V71F	probably damaging	Het
Prob1	T	G	18: 35,652,840	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,656,941	D430E	probably benign	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,820		probably benign	Het
Sgsm2	G	T	11: 74,892,074		probably benign	Het
Slc38a9	A	G	13: 112,690,186	I153V	probably benign	Het
Slco1b2	T	A	6: 141,685,525	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,628,802	S145P	probably benign	Het
Sv2b	T	C	7: 75,136,449	T408A	probably benign	Het
Usp24	T	C	4: 106,403,925	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,632,048	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,580,619	V155M	probably damaging	Het
Wsb1	G	A	11: 79,251,012	L60F	probably damaging	Het
Wwp2	C	T	8: 107,540,646	R297*	probably null	Het
Xkr6	T	C	14: 63,819,707	Y356H	unknown	Het

Other mutations in Igkv3-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Igkv3-2	APN	6	70698994	missense	probably damaging	0.98
IGL02359:Igkv3-2	APN	6	70698490	missense	probably damaging	0.96
IGL02627:Igkv3-2	APN	6	70698826	missense	probably damaging	1.00
R3714:Igkv3-2	UTSW	6	70698496	missense	possibly damaging	0.66
R4255:Igkv3-2	UTSW	6	70699061	missense	probably benign	0.00
R4449:Igkv3-2	UTSW	6	70698841	missense	probably benign	0.11
R4663:Igkv3-2	UTSW	6	70698879	missense	probably benign	0.02
R5361:Igkv3-2	UTSW	6	70699027	missense	probably benign	0.01
R6347:Igkv3-2	UTSW	6	70699033	missense	probably benign	0.01
R6466:Igkv3-2	UTSW	6	70699039	missense	probably benign	0.15
R6761:Igkv3-2	UTSW	6	70698517	critical splice donor site	probably benign
R6874:Igkv3-2	UTSW	6	70698838	nonsense	probably null
R8050:Igkv3-2	UTSW	6	70699004	missense	probably damaging	1.00
Z1177:Igkv3-2	UTSW	6	70699015	nonsense	probably null
Z1177:Igkv3-2	UTSW	6	70699046	missense	probably benign	0.05

Posted On

2015-04-16