Mutagenetix > Incidental Mutation

Incidental Mutation 'R6465:Wfikkn1'

517798

Institutional Source

Beutler Lab

Gene Symbol

Wfikkn1

Ensembl Gene

ENSMUSG00000071192

Gene Name

WAP, FS, Ig, KU, and NTR-containing protein 1

Synonyms

Gasp2

MMRRC Submission

044598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R6465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26096602-26099832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26097692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 211 (C211R)

Ref Sequence

ENSEMBL: ENSMUSP00000093141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026826] [ENSMUST00000026827] [ENSMUST00000095487] [ENSMUST00000110456] [ENSMUST00000163356] [ENSMUST00000164982] [ENSMUST00000166146] [ENSMUST00000169308] [ENSMUST00000176696] [ENSMUST00000167018] [ENSMUST00000169085] [ENSMUST00000167626] [ENSMUST00000179998]

AlphaFold

Q8R0S6

Predicted Effect

probably benign
Transcript: ENSMUST00000026826

SMART Domains

Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
RAB	15	177	9.2e-77	SMART
SOCS	183	226	1.6e-18	SMART
SOCS_box	189	225	7.2e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026827

SMART Domains

Protein: ENSMUSP00000026827
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	203	7.4e-95	PFAM
Pfam:Methyltransf_25	31	133	1.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095487
AA Change: C211R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192
AA Change: C211R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
WAP	32	82	4.04e-3	SMART
KAZAL	119	161	1.96e-2	SMART
IGc2	202	274	2.54e-14	SMART
KU	301	356	4.2e-3	SMART
KU	361	414	1.82e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110456

SMART Domains

Protein: ENSMUSP00000106086
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	78	8.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163356

SMART Domains

Protein: ENSMUSP00000130209
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	172	1.6e-74	PFAM
Pfam:Methyltransf_25	31	133	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164982

SMART Domains

Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
RAB	15	158	5.56e-54	SMART
SOCS	164	207	2.56e-16	SMART
SOCS_box	170	206	9.29e-6	SMART
low complexity region	219	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166146

SMART Domains

Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
SCOP:d3raba_	10	43	3e-9	SMART
Blast:RAB	15	49	1e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000169308

SMART Domains

Protein: ENSMUSP00000126198
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	194	5.6e-86	PFAM
Pfam:Methyltransf_25	31	133	4.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176696

SMART Domains

Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192

Domain	Start	End	E-Value	Type
WAP	2	48	8.8e-2	SMART
KAZAL	85	127	1.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167018

SMART Domains

Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
RAB	15	177	1.88e-74	SMART
SOCS	183	226	2.56e-16	SMART
SOCS_box	189	225	9.29e-6	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169085

SMART Domains

Protein: ENSMUSP00000125990
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	65	6.5e-29	PFAM
Pfam:DUF938	64	106	3.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167626

SMART Domains

Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
RAB	15	177	9.2e-77	SMART
SOCS	183	226	1.6e-18	SMART
SOCS_box	189	225	7.2e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179998

SMART Domains

Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730

Domain	Start	End	E-Value	Type
RAB	15	177	9.4e-77	SMART
SOCS	183	226	1.7e-18	SMART
SOCS_box	189	225	7.3e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Meta Mutation Damage Score

0.8020

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show partial penetrance of posteriorly directed homeotic transformations throughout the axial skeleton, 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,518,041 (GRCm39)	T1415I	probably damaging	Het
Acvr2b	T	A	9: 119,262,369 (GRCm39)	W461R	probably damaging	Het
Adam23	G	T	1: 63,605,827 (GRCm39)	C637F	probably damaging	Het
Apol8	T	G	15: 77,634,148 (GRCm39)	T143P	probably benign	Het
Bfsp1	A	C	2: 143,699,975 (GRCm39)		probably null	Het
Cytl1	T	C	5: 37,895,014 (GRCm39)	V99A	probably benign	Het
Dock2	A	T	11: 34,453,413 (GRCm39)	V793E	probably damaging	Het
Fxyd5	G	T	7: 30,737,305 (GRCm39)	T81K	probably damaging	Het
Gcm1	A	G	9: 77,972,151 (GRCm39)	Y364C	probably damaging	Het
Get3	A	T	8: 85,745,194 (GRCm39)	M291K	probably benign	Het
Haghl	T	C	17: 26,002,793 (GRCm39)	N190S	possibly damaging	Het
Inpp5j	C	A	11: 3,452,293 (GRCm39)	R319L	possibly damaging	Het
Ints10	A	G	8: 69,260,188 (GRCm39)	N304S	probably benign	Het
Isoc1	T	A	18: 58,804,328 (GRCm39)	C119S	probably damaging	Het
Klhl18	A	G	9: 110,257,988 (GRCm39)	M414T	probably benign	Het
Krtap2-4	A	G	11: 99,505,585 (GRCm39)		probably benign	Het
Krtap3-1	G	A	11: 99,457,277 (GRCm39)	P45S	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,711,887 (GRCm39)	V1754A	possibly damaging	Het
Nedd4l	T	A	18: 65,288,335 (GRCm39)	D119E	probably benign	Het
Nsun7	T	C	5: 66,452,929 (GRCm39)	V548A	probably benign	Het
Or5m12	A	T	2: 85,734,883 (GRCm39)	S172T	probably benign	Het
Or6b6	A	T	7: 106,571,419 (GRCm39)	V44E	possibly damaging	Het
Parvg	A	G	15: 84,213,141 (GRCm39)	D127G	probably damaging	Het
Pate13	A	T	9: 35,819,921 (GRCm39)	N25Y	possibly damaging	Het
Piezo2	T	A	18: 63,174,734 (GRCm39)	M2007L	possibly damaging	Het
Pou2f3	A	C	9: 43,051,162 (GRCm39)	F175V	probably damaging	Het
Ptprn2	T	C	12: 117,233,209 (GRCm39)	I958T	probably damaging	Het
Pwwp2b	T	C	7: 138,835,951 (GRCm39)	V464A	probably benign	Het
Pzp	A	G	6: 128,468,582 (GRCm39)	Y982H	probably damaging	Het
Rad17	T	A	13: 100,773,588 (GRCm39)	N202I	probably benign	Het
Rtel1	T	A	2: 180,977,733 (GRCm39)	D271E	possibly damaging	Het
Sos2	T	C	12: 69,643,549 (GRCm39)	S943G	probably benign	Het
Tdpoz6	A	G	3: 93,600,303 (GRCm39)	I22T	probably damaging	Het
Tm9sf2	A	G	14: 122,378,619 (GRCm39)	H241R	probably benign	Het
Ttc8	A	G	12: 98,930,829 (GRCm39)	E291G	probably damaging	Het
Unc93a2	G	T	17: 7,641,842 (GRCm39)	T202K	probably damaging	Het
Ylpm1	T	A	12: 85,096,576 (GRCm39)	D1219E	probably damaging	Het
Zc3hav1	T	C	6: 38,308,784 (GRCm39)	Y586C	possibly damaging	Het
Zcchc4	T	A	5: 52,976,618 (GRCm39)	F471I	probably benign	Het
Zfp719	C	A	7: 43,240,108 (GRCm39)	Y565*	probably null	Het

Other mutations in Wfikkn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0731:Wfikkn1	UTSW	17	26,096,991 (GRCm39)	missense	probably damaging	0.98
R1484:Wfikkn1	UTSW	17	26,096,765 (GRCm39)	missense	probably benign	0.01
R1545:Wfikkn1	UTSW	17	26,097,565 (GRCm39)	missense	probably damaging	1.00
R3689:Wfikkn1	UTSW	17	26,097,692 (GRCm39)	missense	probably damaging	1.00
R4735:Wfikkn1	UTSW	17	26,097,367 (GRCm39)	missense	possibly damaging	0.86
R5553:Wfikkn1	UTSW	17	26,097,468 (GRCm39)	missense	possibly damaging	0.72
R5938:Wfikkn1	UTSW	17	26,097,886 (GRCm39)	missense	probably damaging	1.00
R7516:Wfikkn1	UTSW	17	26,097,020 (GRCm39)	missense	probably damaging	1.00
R7566:Wfikkn1	UTSW	17	26,097,352 (GRCm39)	missense	probably damaging	1.00
R8205:Wfikkn1	UTSW	17	26,097,071 (GRCm39)	missense	probably benign	0.00
R9168:Wfikkn1	UTSW	17	26,097,145 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGTGCAGGTATACAGG -3'
(R):5'- GGCCTTACCTATTACAACCGC -3'

Sequencing Primer
(F):5'- AGGTATACAGGCCCGCATC -3'
(R):5'- TATTACAACCGCTGCTACATGG -3'

Posted On

2018-05-21