Incidental Mutation 'IGL01822:Wnt5b'
ID154582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt5b
Ensembl Gene ENSMUSG00000030170
Gene Namewingless-type MMTV integration site family, member 5B
SynonymsWnt-5b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01822
Quality Score
Status
Chromosome6
Chromosomal Location119432531-119544347 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119433472 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 336 (C336S)
Ref Sequence ENSEMBL: ENSMUSP00000137065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117171] [ENSMUST00000118120] [ENSMUST00000119369] [ENSMUST00000178696]
Predicted Effect probably damaging
Transcript: ENSMUST00000117171
AA Change: C336S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: C336S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
WNT1 50 359 3.47e-215 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118120
AA Change: C298S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: C298S

DomainStartEndE-ValueType
WNT1 12 321 3.47e-215 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119369
AA Change: C349S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: C349S

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
WNT1 63 372 3.47e-215 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178696
AA Change: C336S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: C336S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
WNT1 50 359 3.47e-215 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Wnt5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Wnt5b APN 6 119440554 missense possibly damaging 0.70
luftmensch UTSW 6 119433852 missense probably damaging 0.97
R0557:Wnt5b UTSW 6 119433818 missense probably damaging 1.00
R0732:Wnt5b UTSW 6 119446582 nonsense probably null
R1472:Wnt5b UTSW 6 119433481 missense probably damaging 1.00
R1673:Wnt5b UTSW 6 119446354 missense probably benign 0.19
R4202:Wnt5b UTSW 6 119440311 missense probably damaging 1.00
R5100:Wnt5b UTSW 6 119440488 missense probably benign 0.20
R5264:Wnt5b UTSW 6 119433852 missense probably damaging 0.97
R5393:Wnt5b UTSW 6 119440433 missense probably damaging 1.00
R5394:Wnt5b UTSW 6 119440322 missense probably damaging 0.98
R5482:Wnt5b UTSW 6 119446431 missense probably benign 0.19
R5741:Wnt5b UTSW 6 119433729 missense probably damaging 1.00
R5902:Wnt5b UTSW 6 119448238 missense probably benign 0.00
R6005:Wnt5b UTSW 6 119433654 missense probably benign 0.04
R6061:Wnt5b UTSW 6 119433642 missense probably damaging 0.98
R6208:Wnt5b UTSW 6 119446512 missense probably damaging 1.00
R6405:Wnt5b UTSW 6 119433496 missense probably benign 0.06
R6478:Wnt5b UTSW 6 119433790 missense probably damaging 1.00
R6482:Wnt5b UTSW 6 119433612 missense possibly damaging 0.88
R7047:Wnt5b UTSW 6 119448256 start gained probably benign
R7338:Wnt5b UTSW 6 119448131 splice site probably null
R8044:Wnt5b UTSW 6 119446358 missense probably damaging 1.00
Posted On2014-02-04