Incidental Mutation 'IGL01590:Wnt5b'
ID91571
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 #IGL01590
Quality Score
Status
Chromosome6
Chromosomal Location119432531-119544347 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119440554 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 130 (T130S)
Ref Sequence ENSEMBL: ENSMUSP00000112448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117171] [ENSMUST00000118120] [ENSMUST00000119369] [ENSMUST00000178696]
Predicted Effect possibly damaging
Transcript: ENSMUST00000117171
AA Change: T117S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: T117S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
WNT1 50 359 3.47e-215 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118120
AA Change: T79S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: T79S

DomainStartEndE-ValueType
WNT1 12 321 3.47e-215 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119369
AA Change: T130S

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: T130S

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
WNT1 63 372 3.47e-215 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178696
AA Change: T117S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: T117S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,477,779 probably benign Het
Adgrb2 T G 4: 130,013,813 probably benign Het
Apcs C T 1: 172,894,467 G104D probably damaging Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Cep250 A T 2: 155,992,317 Q2054L possibly damaging Het
Dennd6a T G 14: 26,619,352 V207G probably benign Het
Ehbp1 C A 11: 22,095,611 D688Y possibly damaging Het
Fam83a C A 15: 58,009,777 S334Y probably damaging Het
Fam83e T A 7: 45,723,936 F242Y probably null Het
Fnip1 A T 11: 54,493,300 D341V probably damaging Het
Gm17359 A C 3: 79,449,340 N150T probably damaging Het
Gm5286 G A 3: 94,198,367 probably benign Het
Gpatch3 A G 4: 133,580,717 probably benign Het
Gpc2 C A 5: 138,274,378 V558F probably damaging Het
H2-M10.6 A G 17: 36,812,749 N112D probably benign Het
Hs6st1 A T 1: 36,103,704 D240V probably damaging Het
Inpp5f T A 7: 128,664,307 probably null Het
Itga8 G T 2: 12,160,333 H822N probably damaging Het
Kif20b T A 19: 34,954,726 N1263K possibly damaging Het
Krt28 A G 11: 99,374,394 probably null Het
Muc5ac A T 7: 141,798,893 M706L probably benign Het
Olfr340 A T 2: 36,452,992 M136L probably benign Het
Olfr651 A C 7: 104,553,575 I219L probably benign Het
Prox2 A G 12: 85,088,071 W479R probably damaging Het
Rps19 A T 7: 24,888,456 D152V probably damaging Het
Slc20a1 G A 2: 129,209,226 probably benign Het
Slc7a2 C T 8: 40,914,100 P564S probably damaging Het
Slco1a5 C A 6: 142,250,319 M319I probably benign Het
Tanc1 A G 2: 59,785,473 T275A probably benign Het
Tenm3 A G 8: 48,228,802 S2598P probably damaging Het
Tiparp G A 3: 65,531,976 E56K probably benign Het
Trpm5 G A 7: 143,082,734 R489C probably damaging Het
Vmn2r84 C A 10: 130,386,095 G752V probably damaging Het
Other mutations in Wnt5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Wnt5b APN 6 119433472 missense probably damaging 1.00
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 On2013-12-09