Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Wfikkn2'

167311

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 #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94126782-94136831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94128933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 403 (T403A)

Ref Sequence

ENSEMBL: ENSMUSP00000053238 (fasta)

Gene Model

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

AlphaFold

Q7TQN3

Predicted Effect

probably benign
Transcript: ENSMUST00000061469
AA Change: T403A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: T403A

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

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,208,079 (GRCm39)		probably null	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Actn1	T	C	12: 80,251,852 (GRCm39)	E75G	probably damaging	Het
Adam4	A	T	12: 81,467,651 (GRCm39)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm39)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,392,523 (GRCm39)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,740,547 (GRCm39)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Baz2b	C	T	2: 59,778,598 (GRCm39)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,857,607 (GRCm39)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm39)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,096,130 (GRCm39)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,215,122 (GRCm39)	Y1403N	possibly damaging	Het
Cic	A	T	7: 24,993,235 (GRCm39)		probably null	Het
Coro1b	T	A	19: 4,200,583 (GRCm39)	V200D	possibly damaging	Het
Csl	T	A	10: 99,593,817 (GRCm39)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 145,938,257 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,399,875 (GRCm39)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,838,016 (GRCm39)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,026,031 (GRCm39)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,772,587 (GRCm39)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,845,536 (GRCm39)	S236L	unknown	Het
Frs3	A	G	17: 48,013,903 (GRCm39)	T199A	probably benign	Het
Fsd1	A	G	17: 56,300,870 (GRCm39)	N243S	probably benign	Het
Gabra5	A	C	7: 57,058,641 (GRCm39)	L369R	probably benign	Het
Gask1b	A	G	3: 79,848,771 (GRCm39)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,724,792 (GRCm39)	V54A	probably benign	Het
Gli1	T	C	10: 127,170,138 (GRCm39)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,798,594 (GRCm39)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,779,493 (GRCm39)	C182S	probably null	Het
Gspt1	A	G	16: 11,038,719 (GRCm39)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,427,040 (GRCm39)	C722R	probably benign	Het
Jak1	C	T	4: 101,020,119 (GRCm39)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,027,137 (GRCm39)	V287A	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Kmo	A	G	1: 175,484,368 (GRCm39)	E366G	probably damaging	Het
Lepr	A	T	4: 101,646,541 (GRCm39)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,739,425 (GRCm39)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,690,461 (GRCm39)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,341,671 (GRCm39)	L114R	probably benign	Het
Mgam	T	C	6: 40,638,617 (GRCm39)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,465,373 (GRCm39)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,077,526 (GRCm39)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm39)	I70K	probably benign	Het
Or14a257	A	G	7: 86,138,333 (GRCm39)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Otud7a	A	G	7: 63,408,391 (GRCm39)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,623,945 (GRCm39)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,315,982 (GRCm39)	L733*	probably null	Het
Prdm2	A	T	4: 142,862,153 (GRCm39)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,270,363 (GRCm39)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,085,451 (GRCm39)	R60L	probably damaging	Het
Scart1	G	A	7: 139,808,069 (GRCm39)	V747I	probably benign	Het
Sdk1	A	T	5: 141,985,705 (GRCm39)	H779L	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,045,519 (GRCm39)	K387*	probably null	Het
Slc13a2	T	C	11: 78,288,572 (GRCm39)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,722,386 (GRCm39)		probably null	Het
Slc32a1	T	C	2: 158,456,497 (GRCm39)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,241,025 (GRCm39)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm39)	Y228C	possibly damaging	Het
Spata31e4	G	A	13: 50,854,443 (GRCm39)		probably null	Het
Spc25	T	C	2: 69,030,431 (GRCm39)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,846,178 (GRCm39)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,174 (GRCm39)	K481N	probably benign	Het
Tll2	G	T	19: 41,074,839 (GRCm39)	N908K	probably benign	Het
Tmem236	T	C	2: 14,197,091 (GRCm39)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,596,076 (GRCm39)	S949N	probably benign	Het
Triobp	A	G	15: 78,857,938 (GRCm39)	T1180A	probably benign	Het
Trip11	A	C	12: 101,852,419 (GRCm39)	D548E	probably benign	Het
Trpv2	T	A	11: 62,480,652 (GRCm39)		probably null	Het
Ulbp3	A	G	10: 3,075,230 (GRCm39)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,136,540 (GRCm39)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,837,884 (GRCm39)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,623,876 (GRCm39)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,053 (GRCm39)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,322 (GRCm39)	S449G	probably benign	Het
Xirp2	A	G	2: 67,346,023 (GRCm39)	I2755V	probably benign	Het
Yjefn3	A	G	8: 70,341,729 (GRCm39)	V153A	probably benign	Het
Zfp677	C	A	17: 21,617,499 (GRCm39)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,365,273 (GRCm39)	V134I	probably benign	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
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
R9312:Wfikkn2	UTSW	11	94,129,497 (GRCm39)	missense	probably damaging	0.97
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'- CAGGATGACAAAGTCACTCCGACAG -3'
(R):5'- AATGGCACAGCTTTTCCAGCAAC -3'

Sequencing Primer
(F):5'- TCCGACAGAAGCTGGTAAC -3'
(R):5'- GCTTTTCCAGCAACAGAGTG -3'

Posted On

2014-04-13