Incidental Mutation 'R9301:Wnt11'
ID 704942
Institutional Source Beutler Lab
Gene Symbol Wnt11
Ensembl Gene ENSMUSG00000015957
Gene Name wingless-type MMTV integration site family, member 11
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R9301 (G1)
Quality Score 91.0077
Status Not validated
Chromosome 7
Chromosomal Location 98484293-98503954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98495796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 100 (Y100C)
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: Y100C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064333
Gene: ENSMUSG00000015957
AA Change: Y100C

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 benign
Transcript: ENSMUST00000165122
SMART Domains Protein: ENSMUSP00000125789
Gene: ENSMUSG00000015957

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: Y100C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131770
Gene: ENSMUSG00000015957
AA Change: Y100C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 149 1.35e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167303
AA Change: Y100C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132166
Gene: ENSMUSG00000015957
AA Change: Y100C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
WNT1 47 354 7.5e-170 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,881,128 (GRCm39) N514K probably benign Het
Adss1 A T 12: 112,602,882 (GRCm39) R358W probably damaging Het
Anxa8 T A 14: 33,819,932 (GRCm39) I307N probably damaging Het
Atad5 T A 11: 79,986,845 (GRCm39) I644N probably damaging Het
Atp5f1a G T 18: 77,868,938 (GRCm39) L437F probably damaging Het
Babam1 A G 8: 71,855,684 (GRCm39) K259R possibly damaging Het
BC048562 T G 9: 108,323,054 (GRCm39) F130V probably damaging Het
Btf3l4b T A 13: 96,217,621 (GRCm39) K73* probably null Het
Camsap2 T A 1: 136,202,640 (GRCm39) probably null Het
Ccne2 A G 4: 11,192,881 (GRCm39) I27M probably benign Het
Cd302 A G 2: 60,082,793 (GRCm39) V177A possibly damaging Het
Cfap46 T C 7: 139,222,461 (GRCm39) K1172R Het
Cic T C 7: 24,991,117 (GRCm39) W2141R probably damaging Het
Cpeb3 A G 19: 37,151,473 (GRCm39) V301A possibly damaging Het
Cpsf3 A G 12: 21,350,112 (GRCm39) K277R possibly damaging Het
Cstl1 A G 2: 148,592,926 (GRCm39) H27R possibly damaging Het
Dapk1 T A 13: 60,866,125 (GRCm39) I188K possibly damaging Het
Dock6 T C 9: 21,729,111 (GRCm39) T1301A probably benign Het
Eml5 A T 12: 98,848,292 (GRCm39) C133* probably null Het
Ermap T A 4: 119,042,744 (GRCm39) I260F probably damaging Het
Fbxw22 T G 9: 109,215,653 (GRCm39) E198D possibly damaging Het
Flt4 T C 11: 49,516,241 (GRCm39) Y115H possibly damaging Het
Fmo9 A C 1: 166,494,794 (GRCm39) I369S probably damaging Het
Frmd4a T A 2: 4,157,904 (GRCm39) S6T probably benign Het
Golga5 A T 12: 102,443,057 (GRCm39) I330L probably benign Het
Helq C A 5: 100,927,158 (GRCm39) V643F probably damaging Het
Ino80d A T 1: 63,104,969 (GRCm39) L369H probably damaging Het
Kank1 A T 19: 25,388,798 (GRCm39) M824L probably benign Het
Lilrb4b T C 10: 51,356,801 (GRCm39) probably benign Het
Ltbp4 T A 7: 27,021,578 (GRCm39) D1003V probably damaging Het
Mapk8ip2 T C 15: 89,341,886 (GRCm39) S366P probably damaging Het
Mdga1 T C 17: 30,069,512 (GRCm39) H178R probably benign Het
Mlh3 A G 12: 85,292,613 (GRCm39) V1266A possibly damaging Het
Nrp1 A G 8: 129,089,859 (GRCm39) E78G probably damaging Het
Or1l4 A T 2: 37,091,255 (GRCm39) M1L probably benign Het
Or4z4 A T 19: 12,076,826 (GRCm39) M59K probably damaging Het
Or5d16 A G 2: 87,773,297 (GRCm39) V225A probably benign Het
Or8k33 A G 2: 86,383,818 (GRCm39) S217P possibly damaging Het
Ovch2 A G 7: 107,395,815 (GRCm39) S68P probably damaging Het
Pappa2 T A 1: 158,672,614 (GRCm39) I1110F probably damaging Het
Pcyox1 A C 6: 86,369,241 (GRCm39) L195R possibly damaging Het
Pde11a A G 2: 75,848,217 (GRCm39) L870P probably damaging Het
Pgpep1 G A 8: 71,103,418 (GRCm39) T152M probably damaging Het
Pik3c2a A T 7: 115,945,413 (GRCm39) D1464E probably damaging Het
Plcb1 A G 2: 135,167,610 (GRCm39) K468R possibly damaging Het
Postn C T 3: 54,292,659 (GRCm39) T742I probably benign Het
Ppm1j T A 3: 104,691,057 (GRCm39) Y274N probably damaging Het
Ppp2cb T C 8: 34,090,038 (GRCm39) C32R possibly damaging Het
Prmt9 T A 8: 78,282,374 (GRCm39) Y90* probably null Het
Ptk2 T C 15: 73,146,346 (GRCm39) Y441C probably damaging Het
Rabggta T A 14: 55,957,083 (GRCm39) I266L probably benign Het
Rft1 C T 14: 30,398,812 (GRCm39) R261W probably damaging Het
Rsrc1 C T 3: 67,197,680 (GRCm39) A195V probably damaging Het
Rtkn2 T G 10: 67,871,677 (GRCm39) L355R possibly damaging Het
Runx1t1 A T 4: 13,875,477 (GRCm39) D427V possibly damaging Het
Slc15a4 T G 5: 127,673,812 (GRCm39) H534P probably benign Het
Slc16a7 T C 10: 125,066,880 (GRCm39) N253S probably damaging Het
Slc29a1 A G 17: 45,897,063 (GRCm39) S408P probably damaging Het
Slc52a2 G A 15: 76,424,406 (GRCm39) A215T probably damaging Het
Smc1b T A 15: 85,011,995 (GRCm39) I126L probably damaging Het
Sycp2 A T 2: 178,023,650 (GRCm39) N455K probably benign Het
Tbck T C 3: 132,543,738 (GRCm39) V863A probably benign Het
Tfap2c A G 2: 172,395,347 (GRCm39) M263V probably benign Het
Tmem45a A G 16: 56,627,134 (GRCm39) V245A probably damaging Het
Top2a C T 11: 98,897,790 (GRCm39) G759D probably damaging Het
Traf5 A G 1: 191,729,489 (GRCm39) S218P Het
Tsfm T C 10: 126,866,502 (GRCm39) R20G probably benign Het
Ugt2a2 G T 5: 87,608,382 (GRCm39) Q486K probably damaging Het
Usp34 T A 11: 23,422,951 (GRCm39) D3108E Het
Zbtb49 A G 5: 38,370,931 (GRCm39) C317R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTGGCACTGAATCAGACGC -3'
(R):5'- ATTCGTGCCTGAAAGCCATATC -3'

Sequencing Primer
(F):5'- CTGAATCAGACGCAACACTG -3'
(R):5'- TCTAAGATTGACTCATCCGCTCAAG -3'
Posted On 2022-03-25