Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Wfikkn2'

584103

Institutional Source

Beutler Lab

Gene Symbol

Wfikkn2

Ensembl Gene

ENSMUSG00000044177

Gene Name

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

Synonyms

2610304F08Rik, Gasp1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94235956-94246005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94237912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 468 (T468A)

Ref Sequence

ENSEMBL: ENSMUSP00000053238 (fasta)

Gene Model

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

AlphaFold

Q7TQN3

Predicted Effect

probably benign
Transcript: ENSMUST00000061469
AA Change: T468A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: T468A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933427D14Rik	C	T	11: 72,198,939	V40I	probably damaging	Het
Abcb11	T	C	2: 69,265,486	K837E	probably benign	Het
Arhgef10	T	C	8: 14,979,854	S919P	probably benign	Het
Atxn2	T	C	5: 121,781,368	S530P	probably damaging	Het
Bicc1	T	C	10: 70,956,374	E268G	possibly damaging	Het
Capn7	T	G	14: 31,340,050	L40V	probably damaging	Het
Cd28	A	T	1: 60,769,700	N191I	probably damaging	Het
Cfap69	G	A	5: 5,595,936	T588M	not run	Het
Csmd1	T	C	8: 16,092,296	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,491,086	D398V	probably damaging	Het
Dchs2	T	C	3: 83,355,127	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,126,285	G37S	probably damaging	Het
Diaph1	A	T	18: 37,893,269		probably null	Het
Ech1	T	C	7: 28,825,967	V49A	probably benign	Het
Elovl4	T	C	9: 83,783,218	Y196C	probably damaging	Het
Ern2	G	A	7: 122,173,199	L679F	probably benign	Het
Fbf1	A	T	11: 116,165,833	M17K	probably benign	Het
Flvcr1	C	A	1: 191,025,946	G50W	probably damaging	Het
Fryl	A	G	5: 73,081,039	S1455P	probably benign	Het
Fzd9	A	G	5: 135,249,862	Y390H	probably damaging	Het
Gm10436	T	A	12: 88,176,080	Y451F	probably benign	Het
Gm12800	T	C	4: 101,911,402	S317P	possibly damaging	Het
Gm884	T	C	11: 103,615,448	E1898G	probably benign	Het
Gnai3	C	T	3: 108,118,386	V126M		Het
Gpc5	T	C	14: 115,428,173	F470L	probably damaging	Het
Grin1	T	C	2: 25,305,074	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,579,542	I117F	possibly damaging	Het
Hydin	A	T	8: 110,589,525	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,757,080	H152Q	probably benign	Het
Kcnk12	A	T	17: 87,746,065	S390T	possibly damaging	Het
Klra9	T	G	6: 130,191,220	T28P	probably benign	Het
Lef1	T	A	3: 131,194,765	I327N	probably damaging	Het
Lin54	A	G	5: 100,485,270	V185A	possibly damaging	Het
Lrrc4b	A	T	7: 44,462,551	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Mars	T	C	10: 127,311,610	E7G	probably benign	Het
Mpnd	G	A	17: 56,011,666	R225H	probably benign	Het
Muc4	T	A	16: 32,736,198	M1K	probably null	Het
Nckap5	A	G	1: 126,026,211	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,697,184	T618M	probably damaging	Het
Npas1	A	T	7: 16,460,974		probably null	Het
Nr2f2	A	T	7: 70,354,751	V384D	probably damaging	Het
Olfr1208	T	A	2: 88,897,361	I79F	probably damaging	Het
Olfr378	A	G	11: 73,425,770	L71P	probably damaging	Het
Olfr516	A	G	7: 108,845,321	S230P	probably benign	Het
Paip1	T	A	13: 119,445,801	F188I	probably damaging	Het
Pcdha4	A	T	18: 36,953,723	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427		probably null	Het
Pgpep1	C	T	8: 70,650,518	G110R	unknown	Het
Pidd1	T	A	7: 141,440,339	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,531,349		probably null	Het
Prkcg	A	G	7: 3,310,565	D96G	probably benign	Het
Prpf40b	A	G	15: 99,306,018	N154S	probably benign	Het
Psg17	A	G	7: 18,819,972	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,009,511	I209T	probably damaging	Het
Reln	T	A	5: 21,976,278	K1835*	probably null	Het
Sf3b3	T	C	8: 110,838,283	M298V	probably benign	Het
Slc5a3	T	A	16: 92,077,794	N246K	probably benign	Het
Slmap	T	A	14: 26,429,846	E522D	probably damaging	Het
Slmap	C	T	14: 26,429,848	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,360,998	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,971,635		probably null	Het
Tet3	A	T	6: 83,404,641	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,071,867	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,280,214		probably benign	Het
Trak2	A	T	1: 58,921,068		probably null	Het
Trappc11	T	A	8: 47,522,414	E256D	possibly damaging	Het
Trim62	C	T	4: 128,902,553	T281I	probably benign	Het
Trip13	T	C	13: 73,932,902	E115G	probably benign	Het
Trp63	A	G	16: 25,802,087	T10A	probably benign	Het
Urah	A	T	7: 140,835,652	H11L	probably damaging	Het
Usp39	G	A	6: 72,342,908	T109I	probably damaging	Het
Zfhx4	T	G	3: 5,412,815	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,749,065	R296H	probably benign	Het

Other mutations in Wfikkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Wfikkn2	APN	11	94238095	nonsense	probably null
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
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
R9312:Wfikkn2	UTSW	11	94238671	missense	probably damaging	0.97
R9752:Wfikkn2	UTSW	11	94238385	missense	probably benign	0.17
Z1176:Wfikkn2	UTSW	11	94237652	missense	possibly damaging	0.62
Z1176:Wfikkn2	UTSW	11	94238401	missense	not run

Predicted Primers

PCR Primer
(F):5'- CCATGATGATGAGTGGTGTCTCAC -3'
(R):5'- AAGCTTATGTCCCACGCTGG -3'

Sequencing Primer
(F):5'- TCACCCACTGTCACGTTGGG -3'
(R):5'- CAGTCCTTCGTCTATGGCGG -3'

Posted On

2019-10-17