Incidental Mutation 'IGL03123:Wnt5a'
ID410052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt5a
Ensembl Gene ENSMUSG00000021994
Gene Namewingless-type MMTV integration site family, member 5A
Synonyms8030457G12Rik, Wnt-5a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03123
Quality Score
Status
Chromosome14
Chromosomal Location28504750-28527448 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 28522925 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 376 (Q376H)
Ref Sequence ENSEMBL: ENSMUSP00000064878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063465] [ENSMUST00000112272]
Predicted Effect probably damaging
Transcript: ENSMUST00000063465
AA Change: Q376H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: Q376H

DomainStartEndE-ValueType
Blast:WNT1 1 46 7e-6 BLAST
WNT1 71 380 6.71e-222 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112272
AA Change: Q356H

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: Q356H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
WNT1 51 360 6.71e-222 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134163
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 encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atp10b T C 11: 43,153,283 V112A probably benign Het
Caprin2 G T 6: 148,895,007 A36E probably damaging Het
Dnase1l2 T C 17: 24,442,252 M28V possibly damaging Het
Eci1 T A 17: 24,436,326 probably null Het
Edil3 T A 13: 89,131,736 S178T probably damaging Het
Epha5 A G 5: 84,331,226 probably null Het
Exoc3l4 A G 12: 111,422,113 E12G probably damaging Het
Frmd7 G A X: 50,895,958 T445I probably benign Het
Gatsl3 A T 11: 4,220,278 T119S probably damaging Het
Golga4 A G 9: 118,536,885 E344G probably damaging Het
H2-M10.4 A G 17: 36,461,920 Y57H probably damaging Het
Hnmt T C 2: 24,019,159 I81V probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Htra3 C T 5: 35,666,133 V280I probably damaging Het
Impg2 G T 16: 56,267,122 E992D probably damaging Het
Kctd4 T C 14: 75,962,978 W130R possibly damaging Het
Kdm3b T A 18: 34,809,491 probably null Het
Kmt2d G A 15: 98,861,771 T1202M unknown Het
Lrp11 A T 10: 7,602,925 D326V probably damaging Het
Lrrcc1 A T 3: 14,536,084 I59F probably damaging Het
Lyg2 G A 1: 37,915,764 probably benign Het
Med16 A G 10: 79,896,833 V699A probably damaging Het
Myo18b G T 5: 112,874,938 probably benign Het
Nrxn2 A G 19: 6,481,737 T744A probably damaging Het
Olfr397 T A 11: 73,964,986 I126N probably damaging Het
Oser1 A T 2: 163,411,389 probably benign Het
Pcdhgc5 T C 18: 37,819,913 V80A probably benign Het
Pi4ka C T 16: 17,282,675 G1857D possibly damaging Het
Pitpnc1 C T 11: 107,337,411 probably null Het
Pofut2 A G 10: 77,267,010 E137G probably benign Het
Rgsl1 A T 1: 153,825,941 W291R probably damaging Het
Rnf113a2 T C 12: 84,418,276 I314T probably benign Het
Rps2 C T 17: 24,720,289 probably benign Het
Setbp1 T C 18: 78,857,009 K1148E probably damaging Het
Slc45a2 A G 15: 11,012,655 D248G probably benign Het
Slit2 G T 5: 48,211,339 R352L probably damaging Het
Smg1 A G 7: 118,157,181 probably benign Het
Sycp2 A T 2: 178,352,479 C1217* probably null Het
Tbcb A G 7: 30,226,836 probably benign Het
Tinf2 T C 14: 55,680,889 D128G probably damaging Het
Traf3ip2 A G 10: 39,639,222 D332G possibly damaging Het
Tram1 A G 1: 13,589,605 F40L probably benign Het
Trank1 A T 9: 111,367,407 I1500L probably damaging Het
Wdfy4 G A 14: 33,162,870 P25L probably benign Het
Zfp526 A C 7: 25,224,624 T103P probably benign Het
Other mutations in Wnt5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Wnt5a APN 14 28522909 missense probably damaging 1.00
IGL01945:Wnt5a APN 14 28518562 missense probably damaging 1.00
IGL02117:Wnt5a APN 14 28506120 splice site probably benign
IGL02995:Wnt5a APN 14 28522914 missense probably benign 0.02
Thrush UTSW 14 28518463 missense possibly damaging 0.78
R0254:Wnt5a UTSW 14 28522854 missense probably damaging 1.00
R0277:Wnt5a UTSW 14 28513268 missense possibly damaging 0.74
R0365:Wnt5a UTSW 14 28518504 nonsense probably null
R1472:Wnt5a UTSW 14 28518504 nonsense probably null
R1661:Wnt5a UTSW 14 28518343 missense probably benign 0.02
R1662:Wnt5a UTSW 14 28518343 missense probably benign 0.02
R1762:Wnt5a UTSW 14 28522891 missense probably damaging 1.00
R1791:Wnt5a UTSW 14 28511878 start codon destroyed probably null 0.00
R1933:Wnt5a UTSW 14 28511845 missense probably benign 0.00
R2147:Wnt5a UTSW 14 28513317 missense probably damaging 1.00
R2149:Wnt5a UTSW 14 28513317 missense probably damaging 1.00
R3078:Wnt5a UTSW 14 28513183 nonsense probably null
R3162:Wnt5a UTSW 14 28522488 missense probably benign 0.00
R3162:Wnt5a UTSW 14 28522488 missense probably benign 0.00
R4237:Wnt5a UTSW 14 28522866 missense probably damaging 1.00
R5396:Wnt5a UTSW 14 28522770 missense probably damaging 1.00
R6329:Wnt5a UTSW 14 28518492 nonsense probably null
R6698:Wnt5a UTSW 14 28518463 missense possibly damaging 0.78
R6974:Wnt5a UTSW 14 28522570 missense possibly damaging 0.89
R7114:Wnt5a UTSW 14 28522756 missense probably damaging 1.00
R7232:Wnt5a UTSW 14 28518372 missense probably benign 0.03
R7457:Wnt5a UTSW 14 28518279 splice site probably null
R7666:Wnt5a UTSW 14 28518372 missense possibly damaging 0.88
R8273:Wnt5a UTSW 14 28522605 missense probably damaging 1.00
T0722:Wnt5a UTSW 14 28511925 missense probably benign 0.01
Z1088:Wnt5a UTSW 14 28522728 missense probably damaging 0.99
Z1176:Wnt5a UTSW 14 28511907 missense probably benign
Posted On2016-08-02