Incidental Mutation 'IGL00816:Wfikkn2'
ID 14863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfikkn2
Ensembl Gene ENSMUSG00000044177
Gene Name WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
Synonyms 2610304F08Rik, Gasp1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00816
Quality Score
Status
Chromosome 11
Chromosomal Location 94235956-94246005 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 94238095 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 407 (Q407*)
Ref Sequence ENSEMBL: ENSMUSP00000053238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061469]
AlphaFold Q7TQN3
Predicted Effect probably null
Transcript: ENSMUST00000061469
AA Change: Q407*
SMART Domains Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: Q407*

DomainStartEndE-ValueType
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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,397,203 D5654E probably benign Het
Alg6 A G 4: 99,742,361 S146G probably null Het
Anks1 T C 17: 28,059,393 probably null Het
Bcor T C X: 12,037,820 I1662V probably damaging Het
Bzw1 T C 1: 58,399,054 F98L probably damaging Het
Cdc14b A G 13: 64,205,403 V453A probably benign Het
Copg1 G T 6: 87,893,898 A228S possibly damaging Het
D1Pas1 A G 1: 186,969,412 I513V possibly damaging Het
Efemp1 G A 11: 28,926,223 V463M probably benign Het
Ep400 T A 5: 110,735,490 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fgd3 A G 13: 49,264,786 probably benign Het
Furin C A 7: 80,392,567 G427W probably damaging Het
Glycam1 T G 15: 103,564,232 D25A probably damaging Het
Gpr119 A G X: 48,674,170 L30P probably damaging Het
Gria1 T A 11: 57,317,742 M752K possibly damaging Het
Mcph1 C T 8: 18,632,397 P517S possibly damaging Het
Mug1 T A 6: 121,882,638 Y1199N probably damaging Het
Myt1 A G 2: 181,807,515 D663G probably damaging Het
Ppp1r1c A T 2: 79,709,897 probably null Het
Rab1a C T 11: 20,224,727 T100M possibly damaging Het
Rfx6 A G 10: 51,678,405 K114R probably benign Het
Rmdn1 T C 4: 19,595,119 V177A probably benign Het
Setd5 T G 6: 113,111,414 L168V probably damaging Het
Slc25a10 A T 11: 120,495,150 probably benign Het
Slc38a7 A T 8: 95,844,120 I252N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Taar8c A T 10: 24,101,275 I213N probably damaging Het
Tagln3 A T 16: 45,724,193 C38* probably null Het
Tmcc2 C A 1: 132,380,698 A153S probably benign Het
Tuft1 A T 3: 94,615,831 I291N probably damaging Het
Vmn2r10 T A 5: 109,002,585 M198L possibly damaging Het
Vps13d T A 4: 145,155,994 M1004L probably benign Het
Wfdc3 T C 2: 164,743,025 probably benign Het
Zfp106 T C 2: 120,526,848 I1189V probably benign Het
Zic2 T A 14: 122,478,559 C364* probably null Het
Other mutations in Wfikkn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1269:Wfikkn2 UTSW 11 94238475 missense probably damaging 1.00
R1466:Wfikkn2 UTSW 11 94238895 missense probably damaging 1.00
R1466:Wfikkn2 UTSW 11 94238895 missense probably damaging 1.00
R1519:Wfikkn2 UTSW 11 94238107 missense probably benign 0.00
R1584:Wfikkn2 UTSW 11 94238895 missense probably damaging 1.00
R1856:Wfikkn2 UTSW 11 94238123 nonsense probably null
R2026:Wfikkn2 UTSW 11 94238953 missense possibly damaging 0.93
R2842:Wfikkn2 UTSW 11 94238259 missense probably benign 0.00
R4738:Wfikkn2 UTSW 11 94239076 missense probably benign 0.00
R4833:Wfikkn2 UTSW 11 94239052 missense probably benign 0.09
R5087:Wfikkn2 UTSW 11 94238347 missense probably damaging 1.00
R5775:Wfikkn2 UTSW 11 94238288 missense probably benign 0.22
R5966:Wfikkn2 UTSW 11 94238862 missense probably damaging 1.00
R6842:Wfikkn2 UTSW 11 94238040 missense probably damaging 0.96
R7539:Wfikkn2 UTSW 11 94242359 missense probably damaging 1.00
R7544:Wfikkn2 UTSW 11 94237912 missense probably benign 0.09
R7849:Wfikkn2 UTSW 11 94238984 missense probably benign 0.01
R7879:Wfikkn2 UTSW 11 94238929 missense probably damaging 1.00
R8299:Wfikkn2 UTSW 11 94239064 missense probably damaging 1.00
R9312:Wfikkn2 UTSW 11 94238671 missense probably damaging 0.97
Z1176:Wfikkn2 UTSW 11 94237652 missense possibly damaging 0.62
Z1176:Wfikkn2 UTSW 11 94238401 missense not run
Posted On 2012-12-06