Incidental Mutation 'PIT4486001:Wnt8a'
Institutional Source Beutler Lab
Gene Symbol Wnt8a
Ensembl Gene ENSMUSG00000012282
Gene Namewingless-type MMTV integration site family, member 8A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #PIT4486001 (G1)
Quality Score118.008
Status Not validated
Chromosomal Location34542313-34548273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34547583 bp
Amino Acid Change Tyrosine to Histidine at position 334 (Y334H)
Ref Sequence ENSEMBL: ENSMUSP00000012426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012426]
Predicted Effect probably damaging
Transcript: ENSMUST00000012426
AA Change: Y334H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012426
Gene: ENSMUSG00000012282
AA Change: Y334H

signal peptide 1 19 N/A INTRINSIC
WNT1 21 337 2.26e-155 SMART
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.5%
  • 10x: 84.1%
  • 20x: 70.1%
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, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 145,044,104 S108P probably damaging Het
4930548H24Rik T A 5: 31,487,743 I280K probably damaging Het
4931408C20Rik G A 1: 26,685,329 P257S probably damaging Het
Abhd16b A T 2: 181,493,959 Q218L probably benign Het
Abhd3 T A 18: 10,645,233 I354F probably benign Het
Abt1 T C 13: 23,423,681 Y51C possibly damaging Het
Actl9 T A 17: 33,434,198 Y411N possibly damaging Het
Ano4 A G 10: 88,993,029 V516A probably damaging Het
Bptf A T 11: 107,054,788 S2542T probably damaging Het
Card11 C T 5: 140,876,408 V1045M probably damaging Het
Cdh3 A G 8: 106,541,490 K386E possibly damaging Het
Cks1b C A 3: 89,416,314 Q49H probably damaging Het
Clpb A T 7: 101,663,932 D41V probably benign Het
Cyp3a11 A T 5: 145,860,492 M359K probably damaging Het
Cyp3a13 A T 5: 137,909,966 I207N probably benign Het
Dennd4c T A 4: 86,799,464 L566* probably null Het
Dhtkd1 A T 2: 5,899,995 D859E probably benign Het
Efcab6 T C 15: 83,973,313 D295G probably benign Het
Fcgbp A G 7: 28,075,273 T91A possibly damaging Het
Gm884 A T 11: 103,618,201 H980Q unknown Het
Gsdma3 A G 11: 98,638,054 K454E unknown Het
Herc1 T A 9: 66,372,389 I193N probably damaging Het
Kdm5b T A 1: 134,628,685 L1370Q probably damaging Het
Map4 T G 9: 110,072,614 V965G probably damaging Het
Mkrn2os T C 6: 115,585,483 D173G probably benign Het
Ndfip2 A G 14: 105,294,866 D232G probably damaging Het
Nipal2 C T 15: 34,584,729 G231D probably damaging Het
Notch3 A T 17: 32,154,763 N490K probably damaging Het
Olfr150 T A 9: 39,737,239 C141* probably null Het
Olfr493 A G 7: 108,346,322 S220P possibly damaging Het
Prkar2a T C 9: 108,733,127 L185S probably damaging Het
Ptpn9 T G 9: 57,061,003 N542K probably damaging Het
Pus10 G A 11: 23,712,326 probably null Het
Pyroxd2 A G 19: 42,740,389 S191P probably benign Het
Rab15 T A 12: 76,801,942 K122* probably null Het
Rara A G 11: 98,973,495 N416S possibly damaging Het
Rims2 T C 15: 39,476,520 V870A possibly damaging Het
Sec16a T C 2: 26,425,773 T293A Het
Slc26a3 G A 12: 31,470,950 D718N probably benign Het
Slc44a5 G A 3: 154,259,022 V520I possibly damaging Het
Tgfb2 A T 1: 186,690,727 Y142N probably benign Het
Tgfbi A T 13: 56,629,794 I364F probably damaging Het
Tmem144 A C 3: 79,826,867 D176E probably benign Het
Tns4 A T 11: 99,071,335 L612Q probably damaging Het
Toe1 A G 4: 116,806,495 L76S probably damaging Het
Trank1 T C 9: 111,390,107 F1971L probably damaging Het
Tsen54 G T 11: 115,822,596 V481F probably damaging Het
Uimc1 A G 13: 55,075,568 L297P probably damaging Het
Zfp281 A G 1: 136,627,003 D573G possibly damaging Het
Other mutations in Wnt8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Wnt8a APN 18 34544793 missense probably damaging 0.98
IGL01823:Wnt8a APN 18 34544793 missense possibly damaging 0.85
IGL02964:Wnt8a APN 18 34542421 missense possibly damaging 0.86
R0496:Wnt8a UTSW 18 34544847 missense probably damaging 1.00
R0646:Wnt8a UTSW 18 34547565 missense probably benign 0.02
R1813:Wnt8a UTSW 18 34542369 start codon destroyed probably null 0.89
R1990:Wnt8a UTSW 18 34544884 missense probably damaging 1.00
R1991:Wnt8a UTSW 18 34544884 missense probably damaging 1.00
R1992:Wnt8a UTSW 18 34544884 missense probably damaging 1.00
R4927:Wnt8a UTSW 18 34547472 missense probably damaging 1.00
R5085:Wnt8a UTSW 18 34545603 nonsense probably null
R6161:Wnt8a UTSW 18 34545546 missense possibly damaging 0.86
R7719:Wnt8a UTSW 18 34547535 missense probably damaging 1.00
R8001:Wnt8a UTSW 18 34545516 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-06-07