Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00816:Wfikkn2'

14863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wfikkn2

Ensembl Gene

ENSMUSG00000044177

Gene Name

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

Synonyms

2610304F08Rik, Gasp1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00816

Quality Score

Status

Chromosome

Chromosomal Location

94235956-94246005 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 94238095 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 407 (Q407*)

Ref Sequence

ENSEMBL: ENSMUSP00000053238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061469]

Predicted Effect

probably null
Transcript: ENSMUST00000061469
AA Change: Q407*

SMART Domains

Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: Q407*

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
WAP	37	87	1.77e-3	SMART
low complexity region	91	102	N/A	INTRINSIC
KAZAL	128	170	1.5e-2	SMART
low complexity region	179	192	N/A	INTRINSIC
IGc2	217	289	1.3e-11	SMART
KU	321	374	2e-14	SMART
KU	379	432	2.79e-27	SMART
Pfam:NTR	451	556	2.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131352

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show impaired muscle regeneration and a mild decrease in skeletal muscle weight in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,397,203	D5654E	probably benign	Het
Alg6	A	G	4: 99,742,361	S146G	probably null	Het
Anks1	T	C	17: 28,059,393		probably null	Het
Bcor	T	C	X: 12,037,820	I1662V	probably damaging	Het
Bzw1	T	C	1: 58,399,054	F98L	probably damaging	Het
Cdc14b	A	G	13: 64,205,403	V453A	probably benign	Het
Copg1	G	T	6: 87,893,898	A228S	possibly damaging	Het
D1Pas1	A	G	1: 186,969,412	I513V	possibly damaging	Het
Efemp1	G	A	11: 28,926,223	V463M	probably benign	Het
Ep400	T	A	5: 110,735,490		probably benign	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Fgd3	A	G	13: 49,264,786		probably benign	Het
Furin	C	A	7: 80,392,567	G427W	probably damaging	Het
Glycam1	T	G	15: 103,564,232	D25A	probably damaging	Het
Gpr119	A	G	X: 48,674,170	L30P	probably damaging	Het
Gria1	T	A	11: 57,317,742	M752K	possibly damaging	Het
Mcph1	C	T	8: 18,632,397	P517S	possibly damaging	Het
Mug1	T	A	6: 121,882,638	Y1199N	probably damaging	Het
Myt1	A	G	2: 181,807,515	D663G	probably damaging	Het
Ppp1r1c	A	T	2: 79,709,897		probably null	Het
Rab1a	C	T	11: 20,224,727	T100M	possibly damaging	Het
Rfx6	A	G	10: 51,678,405	K114R	probably benign	Het
Rmdn1	T	C	4: 19,595,119	V177A	probably benign	Het
Setd5	T	G	6: 113,111,414	L168V	probably damaging	Het
Slc25a10	A	T	11: 120,495,150		probably benign	Het
Slc38a7	A	T	8: 95,844,120	I252N	probably damaging	Het
Slit2	G	A	5: 47,989,151	E95K	possibly damaging	Het
Taar8c	A	T	10: 24,101,275	I213N	probably damaging	Het
Tagln3	A	T	16: 45,724,193	C38*	probably null	Het
Tmcc2	C	A	1: 132,380,698	A153S	probably benign	Het
Tuft1	A	T	3: 94,615,831	I291N	probably damaging	Het
Vmn2r10	T	A	5: 109,002,585	M198L	possibly damaging	Het
Vps13d	T	A	4: 145,155,994	M1004L	probably benign	Het
Wfdc3	T	C	2: 164,743,025		probably benign	Het
Zfp106	T	C	2: 120,526,848	I1189V	probably benign	Het
Zic2	T	A	14: 122,478,559	C364*	probably null	Het

Other mutations in Wfikkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1269:Wfikkn2	UTSW	11	94238475	missense	probably damaging	1.00
R1466:Wfikkn2	UTSW	11	94238895	missense	probably damaging	1.00
R1466:Wfikkn2	UTSW	11	94238895	missense	probably damaging	1.00
R1519:Wfikkn2	UTSW	11	94238107	missense	probably benign	0.00
R1584:Wfikkn2	UTSW	11	94238895	missense	probably damaging	1.00
R1856:Wfikkn2	UTSW	11	94238123	nonsense	probably null
R2026:Wfikkn2	UTSW	11	94238953	missense	possibly damaging	0.93
R2842:Wfikkn2	UTSW	11	94238259	missense	probably benign	0.00
R4738:Wfikkn2	UTSW	11	94239076	missense	probably benign	0.00
R4833:Wfikkn2	UTSW	11	94239052	missense	probably benign	0.09
R5087:Wfikkn2	UTSW	11	94238347	missense	probably damaging	1.00
R5775:Wfikkn2	UTSW	11	94238288	missense	probably benign	0.22
R5966:Wfikkn2	UTSW	11	94238862	missense	probably damaging	1.00
R6842:Wfikkn2	UTSW	11	94238040	missense	probably damaging	0.96
R7539:Wfikkn2	UTSW	11	94242359	missense	probably damaging	1.00
R7544:Wfikkn2	UTSW	11	94237912	missense	probably benign	0.09
R7849:Wfikkn2	UTSW	11	94238984	missense	probably benign	0.01
R7879:Wfikkn2	UTSW	11	94238929	missense	probably damaging	1.00
R8299:Wfikkn2	UTSW	11	94239064	missense	probably damaging	1.00
Z1176:Wfikkn2	UTSW	11	94237652	missense	possibly damaging	0.62
Z1176:Wfikkn2	UTSW	11	94238401	missense	not run

Posted On

2012-12-06