Incidental Mutation 'R3112:Wnt11'
ID 263741
Institutional Source Beutler Lab
Gene Symbol Wnt11
Ensembl Gene ENSMUSG00000015957
Gene Name wingless-type MMTV integration site family, member 11
Synonyms
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R3112 (G1)
Quality Score 147
Status Validated
Chromosome 7
Chromosomal Location 98484293-98503954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98495771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000132166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067495] [ENSMUST00000163913] [ENSMUST00000165122] [ENSMUST00000165240] [ENSMUST00000167303]
AlphaFold P48615
Predicted Effect probably damaging
Transcript: ENSMUST00000067495
AA Change: S92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064333
Gene: ENSMUSG00000015957
AA Change: S92P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 354 7.5e-170 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163913
Predicted Effect probably damaging
Transcript: ENSMUST00000165122
AA Change: S92P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125789
Gene: ENSMUSG00000015957
AA Change: S92P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:wnt 44 98 6.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165240
AA Change: S92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131770
Gene: ENSMUSG00000015957
AA Change: S92P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 149 1.35e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167303
AA Change: S92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132166
Gene: ENSMUSG00000015957
AA Change: S92P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 354 7.5e-170 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208062
Meta Mutation Damage Score 0.9045 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in extensive embryonic lethality and mutants surviving to birth die within the first 2 days of life. The kidneys are small and exhibit delayed development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly damaging Het
Other mutations in Wnt11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02889:Wnt11 APN 7 98,499,566 (GRCm39) missense probably damaging 1.00
R0277:Wnt11 UTSW 7 98,496,590 (GRCm39) missense probably damaging 0.99
R0323:Wnt11 UTSW 7 98,496,590 (GRCm39) missense probably damaging 0.99
R0674:Wnt11 UTSW 7 98,495,735 (GRCm39) missense probably damaging 1.00
R3110:Wnt11 UTSW 7 98,495,771 (GRCm39) missense probably damaging 1.00
R5534:Wnt11 UTSW 7 98,488,349 (GRCm39) missense probably damaging 0.98
R5899:Wnt11 UTSW 7 98,488,383 (GRCm39) nonsense probably null
R6481:Wnt11 UTSW 7 98,502,481 (GRCm39) missense probably damaging 1.00
R7198:Wnt11 UTSW 7 98,496,588 (GRCm39) missense possibly damaging 0.87
R9148:Wnt11 UTSW 7 98,488,241 (GRCm39) start gained probably benign
R9301:Wnt11 UTSW 7 98,495,796 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTTGGCACTGAATCAGAC -3'
(R):5'- GCCTGAAAGCCATATCTAAGATTGAC -3'

Sequencing Primer
(F):5'- TTGGCACTGAATCAGACGCAAC -3'
(R):5'- TCTAAGATTGACTCATCCGCTCAAG -3'
Posted On 2015-02-05