Mutagenetix > Incidental Mutation

Incidental Mutation 'R5938:Wfikkn1'

462401

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

044131-MU

Accession Numbers

Essential gene?

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

Stock #

R5938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26096602-26099832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26097886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 112 (D112V)

Ref Sequence

ENSEMBL: ENSMUSP00000135083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026826] [ENSMUST00000026827] [ENSMUST00000095487] [ENSMUST00000110456] [ENSMUST00000163356] [ENSMUST00000164982] [ENSMUST00000166146] [ENSMUST00000176696] [ENSMUST00000169308] [ENSMUST00000169085] [ENSMUST00000167626] [ENSMUST00000167018] [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: D146V

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

SMART Domains

Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192
AA Change: D146V

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

probably damaging
Transcript: ENSMUST00000176696
AA Change: D112V

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

SMART Domains

Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192
AA Change: D112V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166619

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: 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: 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: 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

0.9327

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

94% (63/67)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,333,400 (GRCm39)	D503E	possibly damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Cacna1d	C	T	14: 29,825,692 (GRCm39)	V1001I	probably damaging	Het
Calhm3	T	C	19: 47,140,516 (GRCm39)	I192M	probably damaging	Het
Cep44	A	G	8: 57,000,457 (GRCm39)	S19P	possibly damaging	Het
Cxcl15	T	A	5: 90,949,225 (GRCm39)	I130K	unknown	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Emc1	T	G	4: 139,084,931 (GRCm39)	H167Q	probably benign	Het
Epb41l3	T	G	17: 69,566,066 (GRCm39)	Y416D	probably damaging	Het
Erbb2	G	A	11: 98,326,397 (GRCm39)	R1007H	probably damaging	Het
Esr1	A	G	10: 4,916,245 (GRCm39)		probably benign	Het
Fat4	G	A	3: 39,005,388 (GRCm39)	R1929Q	probably damaging	Het
Fsip2	T	A	2: 82,807,835 (GRCm39)	C1385S	probably benign	Het
Gbf1	T	C	19: 46,256,891 (GRCm39)	I777T	probably damaging	Het
Gm16092	T	G	1: 85,440,689 (GRCm39)		noncoding transcript	Het
Greb1	T	A	12: 16,767,259 (GRCm39)	K314N	probably damaging	Het
Iigp1c	C	A	18: 60,378,724 (GRCm39)	N86K	probably damaging	Het
Ipcef1	A	G	10: 6,858,029 (GRCm39)		probably benign	Het
Iqank1	G	A	15: 75,917,281 (GRCm39)	E305K	possibly damaging	Het
Mgat4a	C	A	1: 37,491,344 (GRCm39)	L292F	probably damaging	Het
Mill1	A	G	7: 17,996,613 (GRCm39)	N143S	probably benign	Het
Mindy1	A	G	3: 95,201,067 (GRCm39)	T324A	probably benign	Het
Mpdz	T	A	4: 81,202,851 (GRCm39)	H1882L	probably damaging	Het
Ncapg2	T	A	12: 116,393,277 (GRCm39)	W494R	probably damaging	Het
Oas1c	A	T	5: 120,943,598 (GRCm39)	H180Q	probably benign	Het
Or2q1	T	A	6: 42,794,701 (GRCm39)	C99S	probably damaging	Het
Or4c108	T	C	2: 88,803,357 (GRCm39)	M293V	probably benign	Het
Or4k49	A	G	2: 111,494,708 (GRCm39)	M46V	probably benign	Het
Or5ak20	A	T	2: 85,183,620 (GRCm39)	S217T	probably damaging	Het
Or6c88	A	G	10: 129,407,396 (GRCm39)	R291G	probably damaging	Het
Pelp1	A	G	11: 70,285,693 (GRCm39)	V725A	probably damaging	Het
Plxna4	T	C	6: 32,211,541 (GRCm39)	E666G	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,432,411 (GRCm39)	D285G	probably damaging	Het
Rasa2	A	G	9: 96,493,442 (GRCm39)	S81P	possibly damaging	Het
Rhd	T	A	4: 134,623,287 (GRCm39)	F418Y	probably benign	Het
Rnf207	T	C	4: 152,402,385 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Ryr1	A	C	7: 28,746,290 (GRCm39)	L3830R	probably damaging	Het
Sgsh	A	G	11: 119,237,625 (GRCm39)	Y330H	probably benign	Het
Sh3bp5	T	C	14: 31,109,791 (GRCm39)	E130G	possibly damaging	Het
Slc29a3	A	G	10: 60,588,563 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,194,443 (GRCm39)	L400P	probably damaging	Het
Snd1	A	G	6: 28,874,858 (GRCm39)		probably null	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tas2r110	A	T	6: 132,845,016 (GRCm39)	I16L	probably benign	Het
Tmx3	T	A	18: 90,546,058 (GRCm39)	V213D	possibly damaging	Het
Uba2	A	T	7: 33,864,915 (GRCm39)		probably null	Het
Zfhx4	A	G	3: 5,467,198 (GRCm39)	N2452S	probably damaging	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
R6465:Wfikkn1	UTSW	17	26,097,692 (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'- AACATGCACTGCCTGTGGTG -3'
(R):5'- GAAGTGCTGCACCAATGTGTG -3'

Sequencing Primer
(F):5'- CACTGCCTGTGGTGAGGGG -3'
(R):5'- CTGCACCAATGTGTGTGGGC -3'

Posted On

2017-02-28