Mutagenetix > Incidental Mutation

Incidental Mutation 'R9312:Wfikkn2'

705665

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94126782-94136831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94129497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 215 (S215P)

Ref Sequence

ENSEMBL: ENSMUSP00000053238 (fasta)

Gene Model

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

AlphaFold

Q7TQN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061469
AA Change: S215P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: S215P

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: 99.5%
20x: 98.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,565,791 (GRCm39)	L607P	probably damaging	Het
Adamts16	T	A	13: 70,949,045 (GRCm39)	R205S	probably damaging	Het
Adgra3	T	C	5: 50,117,900 (GRCm39)	Y1216C	probably damaging	Het
Arl3	A	G	19: 46,531,964 (GRCm39)	V91A	probably damaging	Het
Bckdhb	A	T	9: 83,870,833 (GRCm39)	K114N	probably benign	Het
Cabin1	A	T	10: 75,561,569 (GRCm39)	D150E	probably benign	Het
Cadps	G	A	14: 12,616,095 (GRCm38)	R312C	probably damaging	Het
Cep120	A	G	18: 53,860,713 (GRCm39)	I239T	probably benign	Het
Clec4g	T	A	8: 3,768,371 (GRCm39)	E120V	probably null	Het
Col18a1	T	C	10: 76,894,606 (GRCm39)	E1022G	probably damaging	Het
Cyfip2	A	G	11: 46,167,709 (GRCm39)	I231T	possibly damaging	Het
Dcaf17	T	C	2: 70,908,458 (GRCm39)	Y228H	probably benign	Het
Ddx41	T	A	13: 55,683,842 (GRCm39)	Q52L	probably benign	Het
Dync2h1	T	C	9: 7,050,413 (GRCm39)	Y3212C	probably damaging	Het
Etv4	A	G	11: 101,664,923 (GRCm39)	Y177H	probably benign	Het
Fer1l5	A	G	1: 36,460,248 (GRCm39)	E1910G	probably damaging	Het
Fgf11	G	T	11: 69,689,412 (GRCm39)	H195Q	probably damaging	Het
Gatb	A	G	3: 85,561,070 (GRCm39)	K529E	probably damaging	Het
Gfus	T	C	15: 75,797,169 (GRCm39)	Y292C	possibly damaging	Het
Gsdmc	C	A	15: 63,649,806 (GRCm39)	A362S	probably damaging	Het
Gucy1b1	A	T	3: 81,942,123 (GRCm39)	N545K	probably damaging	Het
Heatr1	A	G	13: 12,446,565 (GRCm39)	H1638R	probably benign	Het
Hecw1	T	G	13: 14,546,567 (GRCm39)	I145L	probably damaging	Het
Hmmr	A	G	11: 40,614,316 (GRCm39)	V124A	possibly damaging	Het
Il31ra	C	T	13: 112,686,023 (GRCm39)	V89I	probably benign	Het
Kcnmb3	A	T	3: 32,536,575 (GRCm39)	M51K	probably benign	Het
Lamb1	C	T	12: 31,368,352 (GRCm39)	R1209C	probably damaging	Het
Lcn6	G	T	2: 25,570,074 (GRCm39)	G80V	probably benign	Het
Lgsn	A	G	1: 31,243,280 (GRCm39)	E454G	probably benign	Het
Loxhd1	G	A	18: 77,498,285 (GRCm39)	M1624I	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapk8ip3	T	C	17: 25,146,925 (GRCm39)		probably null	Het
Mlip	A	G	9: 77,147,060 (GRCm39)	Y26H	probably damaging	Het
Nipsnap1	A	C	11: 4,839,902 (GRCm39)	I208L	possibly damaging	Het
Nusap1	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	2: 119,458,119 (GRCm39)		probably benign	Het
Or5m11	T	A	2: 85,781,509 (GRCm39)	V34D	possibly damaging	Het
Pigr	C	T	1: 130,762,185 (GRCm39)	T7M	probably benign	Het
Pigu	T	C	2: 155,199,315 (GRCm39)	M1V	probably null	Het
Pkd1	T	A	17: 24,797,364 (GRCm39)	I2568N	probably damaging	Het
Psmd4	A	T	3: 94,940,729 (GRCm39)	S345T	probably benign	Het
Rab3gap2	A	T	1: 185,015,684 (GRCm39)	M1321L	probably benign	Het
Rnf157	A	G	11: 116,240,158 (GRCm39)		probably null	Het
Sart3	C	T	5: 113,900,935 (GRCm39)	E168K	possibly damaging	Het
Scnn1g	A	G	7: 121,339,818 (GRCm39)	K206E	probably benign	Het
Smg6	A	C	11: 74,820,877 (GRCm39)	S383R	probably benign	Het
Smurf1	G	T	5: 144,830,893 (GRCm39)	P294H	probably damaging	Het
Sspo	A	T	6: 48,445,396 (GRCm39)	H2279L	probably benign	Het
Tacc2	A	T	7: 130,223,978 (GRCm39)	D221V	probably benign	Het
Tgm6	T	A	2: 129,977,701 (GRCm39)	H13Q	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,767 (GRCm39)	D32G	probably damaging	Het
Tppp	A	G	13: 74,179,377 (GRCm39)	D167G	probably damaging	Het
Trak1	A	G	9: 121,280,757 (GRCm39)	E382G	probably benign	Het
Trdv2-1	C	T	14: 54,183,570 (GRCm39)	T14I	probably benign	Het
Ubr3	A	T	2: 69,784,677 (GRCm39)	D799V	probably damaging	Het
Usp28	T	A	9: 48,926,439 (GRCm39)	Y317*	probably null	Het
Vmn1r225	C	T	17: 20,722,960 (GRCm39)	L134F	probably benign	Het
Vmn2r86	A	G	10: 130,288,406 (GRCm39)	I365T	probably benign	Het
Xrcc2	A	G	5: 25,897,124 (GRCm39)	V275A	probably damaging	Het
Zfp423	T	A	8: 88,508,569 (GRCm39)	I592F	probably damaging	Het

Other mutations in Wfikkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Wfikkn2	APN	11	94,128,921 (GRCm39)	nonsense	probably null
R1269:Wfikkn2	UTSW	11	94,129,301 (GRCm39)	missense	probably damaging	1.00
R1466:Wfikkn2	UTSW	11	94,129,721 (GRCm39)	missense	probably damaging	1.00
R1466:Wfikkn2	UTSW	11	94,129,721 (GRCm39)	missense	probably damaging	1.00
R1519:Wfikkn2	UTSW	11	94,128,933 (GRCm39)	missense	probably benign	0.00
R1584:Wfikkn2	UTSW	11	94,129,721 (GRCm39)	missense	probably damaging	1.00
R1856:Wfikkn2	UTSW	11	94,128,949 (GRCm39)	nonsense	probably null
R2026:Wfikkn2	UTSW	11	94,129,779 (GRCm39)	missense	possibly damaging	0.93
R2842:Wfikkn2	UTSW	11	94,129,085 (GRCm39)	missense	probably benign	0.00
R4738:Wfikkn2	UTSW	11	94,129,902 (GRCm39)	missense	probably benign	0.00
R4833:Wfikkn2	UTSW	11	94,129,878 (GRCm39)	missense	probably benign	0.09
R5087:Wfikkn2	UTSW	11	94,129,173 (GRCm39)	missense	probably damaging	1.00
R5775:Wfikkn2	UTSW	11	94,129,114 (GRCm39)	missense	probably benign	0.22
R5966:Wfikkn2	UTSW	11	94,129,688 (GRCm39)	missense	probably damaging	1.00
R6842:Wfikkn2	UTSW	11	94,128,866 (GRCm39)	missense	probably damaging	0.96
R7539:Wfikkn2	UTSW	11	94,133,185 (GRCm39)	missense	probably damaging	1.00
R7544:Wfikkn2	UTSW	11	94,128,738 (GRCm39)	missense	probably benign	0.09
R7849:Wfikkn2	UTSW	11	94,129,810 (GRCm39)	missense	probably benign	0.01
R7879:Wfikkn2	UTSW	11	94,129,755 (GRCm39)	missense	probably damaging	1.00
R8299:Wfikkn2	UTSW	11	94,129,890 (GRCm39)	missense	probably damaging	1.00
R9752:Wfikkn2	UTSW	11	94,129,211 (GRCm39)	missense	probably benign	0.17
Z1176:Wfikkn2	UTSW	11	94,129,227 (GRCm39)	missense	not run
Z1176:Wfikkn2	UTSW	11	94,128,478 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ACAGGTGTATATGCCAGCATC -3'
(R):5'- CAACCGTTGCTTCATGGACG -3'

Sequencing Primer
(F):5'- AGCATCCTGGGGCTGGAC -3'
(R):5'- TTGCTTCATGGACGCCGAAG -3'

Posted On

2022-03-25