Incidental Mutation 'R5534:Wnt11'
ID 434708
Institutional Source Beutler Lab
Gene Symbol Wnt11
Ensembl Gene ENSMUSG00000015957
Gene Name wingless-type MMTV integration site family, member 11
Synonyms
MMRRC Submission 043092-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R5534 (G1)
Quality Score 165
Status Not validated
Chromosome 7
Chromosomal Location 98484293-98503954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98488349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 12 (L12P)
Ref Sequence ENSEMBL: ENSMUSP00000131770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067495] [ENSMUST00000163913] [ENSMUST00000165122] [ENSMUST00000165240] [ENSMUST00000167303]
AlphaFold P48615
Predicted Effect possibly damaging
Transcript: ENSMUST00000067495
AA Change: L12P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064333
Gene: ENSMUSG00000015957
AA Change: L12P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 354 7.5e-170 SMART
Predicted Effect unknown
Transcript: ENSMUST00000163913
AA Change: L12P
Predicted Effect possibly damaging
Transcript: ENSMUST00000165122
AA Change: L12P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125789
Gene: ENSMUSG00000015957
AA Change: L12P

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: L12P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131770
Gene: ENSMUSG00000015957
AA Change: L12P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 149 1.35e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167303
AA Change: L12P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132166
Gene: ENSMUSG00000015957
AA Change: L12P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 354 7.5e-170 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
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 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,155,530 (GRCm39) D163V probably benign Het
Ank2 A T 3: 126,740,947 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,814,442 (GRCm39) E355G probably damaging Het
Ankmy2 A G 12: 36,232,491 (GRCm39) N172S probably damaging Het
Ankrd50 A G 3: 38,510,231 (GRCm39) M712T probably damaging Het
Apcdd1 T C 18: 63,070,105 (GRCm39) I124T probably benign Het
Carmil3 A G 14: 55,732,347 (GRCm39) K256R probably damaging Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Ccdc141 A G 2: 76,888,241 (GRCm39) V508A probably benign Het
Ccdc33 A G 9: 58,024,450 (GRCm39) S226P possibly damaging Het
Cep72 T C 13: 74,210,335 (GRCm39) E9G probably benign Het
Clca4b A T 3: 144,621,227 (GRCm39) Y616N probably damaging Het
Cnot4 A G 6: 35,054,939 (GRCm39) S117P possibly damaging Het
Col11a2 C T 17: 34,269,998 (GRCm39) A429V probably damaging Het
Col4a4 T C 1: 82,465,238 (GRCm39) E979G unknown Het
Coq10b T C 1: 55,103,359 (GRCm39) Y46H possibly damaging Het
Cplane1 C A 15: 8,258,319 (GRCm39) F2188L probably benign Het
Dnah17 T C 11: 117,943,596 (GRCm39) T3169A possibly damaging Het
Dock6 G A 9: 21,714,372 (GRCm39) R1824* probably null Het
Dsp A C 13: 38,379,818 (GRCm39) I1589L probably benign Het
Edil3 A G 13: 89,347,593 (GRCm39) T383A probably benign Het
Efemp1 T C 11: 28,817,758 (GRCm39) V79A probably damaging Het
Esyt1 C T 10: 128,355,329 (GRCm39) V471I probably benign Het
Fbxo30 T C 10: 11,165,409 (GRCm39) S44P possibly damaging Het
Fdx2 G T 9: 20,984,562 (GRCm39) D57E probably benign Het
Gbp11 A T 5: 105,478,904 (GRCm39) V178D probably damaging Het
Gna11 A T 10: 81,366,967 (GRCm39) I283N probably damaging Het
Grid2 A T 6: 63,480,345 (GRCm39) Q53L probably benign Het
Jmjd6 A G 11: 116,731,252 (GRCm39) S266P probably damaging Het
Kirrel1 G A 3: 86,997,825 (GRCm39) R233C probably damaging Het
Kmt2d A G 15: 98,735,238 (GRCm39) probably benign Het
Lama3 A T 18: 12,686,267 (GRCm39) T1171S probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Med13 A T 11: 86,210,191 (GRCm39) S650R probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mgat1 T C 11: 49,151,976 (GRCm39) V153A probably benign Het
Mmp16 A T 4: 18,110,452 (GRCm39) D416V probably damaging Het
Myh3 A T 11: 66,987,870 (GRCm39) R1448W probably damaging Het
Nedd1 A T 10: 92,530,894 (GRCm39) F398L probably benign Het
Or2a14 A G 6: 43,130,567 (GRCm39) I109M probably benign Het
Or4k45 T C 2: 111,395,349 (GRCm39) T147A probably benign Het
Or5ac17 T C 16: 59,036,403 (GRCm39) D191G probably benign Het
Or5g9 T C 2: 85,552,331 (GRCm39) I194T probably benign Het
Otud3 A G 4: 138,624,894 (GRCm39) L269P probably damaging Het
Otx1 A G 11: 21,946,296 (GRCm39) probably benign Het
Pcdhga7 A C 18: 37,849,331 (GRCm39) D446A probably damaging Het
Pcnx2 T G 8: 126,564,754 (GRCm39) K1046N possibly damaging Het
Pfkp C A 13: 6,698,619 (GRCm39) G33W probably damaging Het
Poglut2 C T 1: 44,151,837 (GRCm39) V351M probably damaging Het
Pold1 A G 7: 44,188,043 (GRCm39) I585T probably damaging Het
Pole4 A G 6: 82,629,115 (GRCm39) Y84H possibly damaging Het
Pramel26 G T 4: 143,539,169 (GRCm39) S108* probably null Het
Ptpn23 A G 9: 110,221,809 (GRCm39) S126P possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rin3 T C 12: 102,353,891 (GRCm39) L766P probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rras2 G A 7: 113,649,650 (GRCm39) T138I possibly damaging Het
Scrn2 A G 11: 96,921,751 (GRCm39) I74V probably benign Het
Sema6d T C 2: 124,501,735 (GRCm39) I526T possibly damaging Het
Shd G T 17: 56,278,577 (GRCm39) E47* probably null Het
Slc22a27 T C 19: 7,903,996 (GRCm39) H47R probably damaging Het
Slc36a3 C G 11: 55,033,595 (GRCm39) W141S possibly damaging Het
Slc9c1 T A 16: 45,376,977 (GRCm39) V429E probably benign Het
Smg8 A T 11: 86,976,296 (GRCm39) D428E probably benign Het
Snrpe A T 1: 133,534,211 (GRCm39) F84Y probably benign Het
Tbc1d2b C T 9: 90,109,559 (GRCm39) D306N possibly damaging Het
Trav9n-4 A G 14: 53,532,356 (GRCm39) Y70C probably damaging Het
Tut7 A G 13: 59,936,367 (GRCm39) F843L probably damaging Het
Ush1c A G 7: 45,870,847 (GRCm39) I330T probably damaging Het
Zan A G 5: 137,436,713 (GRCm39) S2047P unknown Het
Zfp763 A C 17: 33,240,768 (GRCm39) S20R probably 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
R3112:Wnt11 UTSW 7 98,495,771 (GRCm39) missense probably damaging 1.00
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'- TCACCTAATCCGAGCCTGAC -3'
(R):5'- AAGTCGCCGAGCTAAGAACG -3'

Sequencing Primer
(F):5'- AGAGAGCGGACTCCTTCCTC -3'
(R):5'- AGCTAAGAACGGCTCGC -3'
Posted On 2016-10-24