Mutagenetix > Incidental Mutation

Incidental Mutation 'R5553:Wfikkn1'

435244

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

043110-MU

Accession Numbers

Essential gene?

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

Stock #

R5553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26096602-26099832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26097468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 285 (L285F)

Ref Sequence

ENSEMBL: ENSMUSP00000093141 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000095487
AA Change: L285F

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192
AA Change: L285F

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: 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: 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

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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,792,690 (GRCm39)	I86F	probably damaging	Het
Abca13	C	T	11: 9,278,158 (GRCm39)	L3113F	probably damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Ano8	T	A	8: 71,937,641 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,364,152 (GRCm39)	S1041C	probably damaging	Het
Bsn	T	A	9: 107,987,620 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,480,451 (GRCm39)	E80G	possibly damaging	Het
Chd1	A	G	17: 17,605,875 (GRCm39)	E271G	probably benign	Het
Dock3	T	A	9: 106,868,309 (GRCm39)	K658N	possibly damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dppa1	T	A	11: 46,503,861 (GRCm39)		probably null	Het
Fen1	T	C	19: 10,177,787 (GRCm39)	N219S	probably benign	Het
Fsip2	A	G	2: 82,793,090 (GRCm39)	T416A	probably benign	Het
Gm14393	A	T	2: 174,903,639 (GRCm39)	C89*	probably null	Het
Grin2c	C	T	11: 115,143,551 (GRCm39)	M736I	probably null	Het
Heatr5b	A	T	17: 79,060,780 (GRCm39)		probably null	Het
Hspbap1	G	T	16: 35,621,967 (GRCm39)	W104L	probably damaging	Het
Igfn1	C	T	1: 135,895,622 (GRCm39)	G1648E	probably damaging	Het
Irf4	A	G	13: 30,935,811 (GRCm39)	Y122C	probably damaging	Het
Kremen2	A	G	17: 23,960,776 (GRCm39)		probably benign	Het
Niban1	C	T	1: 151,592,986 (GRCm39)	T557M	probably damaging	Het
Nubpl	T	A	12: 52,228,082 (GRCm39)	L169M	possibly damaging	Het
Nwd1	T	C	8: 73,431,604 (GRCm39)	S1200P	possibly damaging	Het
Or1j20	A	G	2: 36,760,477 (GRCm39)	I300V	probably benign	Het
Or5p61	A	T	7: 107,758,478 (GRCm39)	S201T	probably benign	Het
Parp14	G	T	16: 35,677,306 (GRCm39)	H887Q	probably benign	Het
Paxip1	G	A	5: 27,980,637 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,822,565 (GRCm39)	M392T	probably benign	Het
Plekhm3	T	C	1: 64,961,045 (GRCm39)	S404G	possibly damaging	Het
Prelid3a	T	C	18: 67,610,093 (GRCm39)	L141P	probably damaging	Het
Ptprb	T	A	10: 116,186,090 (GRCm39)	V1715E	probably damaging	Het
Rc3h2	G	A	2: 37,288,323 (GRCm39)	R420*	probably null	Het
Selenon	C	A	4: 134,268,228 (GRCm39)	R435L	probably damaging	Het
Slc29a4	T	C	5: 142,705,791 (GRCm39)	L425P	probably damaging	Het
Slc30a9	T	A	5: 67,502,947 (GRCm39)		probably null	Het
Slc9a5	T	C	8: 106,083,672 (GRCm39)	V404A	probably damaging	Het
Ssc5d	A	T	7: 4,939,289 (GRCm39)	D575V	probably damaging	Het
Ttn	A	C	2: 76,721,940 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,725,110 (GRCm39)	Q13R	possibly damaging	Het
Zcchc17	A	G	4: 130,247,927 (GRCm39)		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
R5938:Wfikkn1	UTSW	17	26,097,886 (GRCm39)	missense	probably damaging	1.00
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'- CATGCCTCATAGGTCTCAAAGC -3'
(R):5'- CACTGTGATGTTAGTGGCCG -3'

Sequencing Primer
(F):5'- TCATAGGTCTCAAAGCCCCGG -3'
(R):5'- CTGCTGTGACCTGGGAGAAG -3'

Posted On

2016-10-24