Incidental Mutation 'R7787:Wnt7b'
ID 599623
Institutional Source Beutler Lab
Gene Symbol Wnt7b
Ensembl Gene ENSMUSG00000022382
Gene Name wingless-type MMTV integration site family, member 7B
Synonyms Wnt-7b
MMRRC Submission 045843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7787 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 85419638-85466022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85428112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 117 (I117F)
Ref Sequence ENSEMBL: ENSMUSP00000023015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023015] [ENSMUST00000109424] [ENSMUST00000167968] [ENSMUST00000229191] [ENSMUST00000229495]
AlphaFold P28047
Predicted Effect probably damaging
Transcript: ENSMUST00000023015
AA Change: I117F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023015
Gene: ENSMUSG00000022382
AA Change: I117F

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
WNT1 40 349 1.29e-214 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109424
AA Change: I110F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105051
Gene: ENSMUSG00000022382
AA Change: I110F

DomainStartEndE-ValueType
low complexity region 20 38 N/A INTRINSIC
WNT1 44 353 1.29e-214 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167968
AA Change: I43F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130627
Gene: ENSMUSG00000022382
AA Change: I43F

DomainStartEndE-ValueType
WNT1 1 282 1.21e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229191
AA Change: I114F

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000229495
AA Change: I43F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family, which consists of structurally related genes that 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. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null embryos die at midgestational stages due to placental abnormalities involving the fusion of the chorion and allantois. Mice homozygous for a truncated allele display neonatal lethality, respiratory failure, and lung hemorrhage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,263,926 (GRCm39) I38N probably damaging Het
Abcb4 G A 5: 8,959,220 (GRCm39) V216M probably damaging Het
Abcc2 G A 19: 43,772,685 (GRCm39) V32M probably damaging Het
Adgrb3 C A 1: 25,471,625 (GRCm39) V714F probably damaging Het
Ahnak T A 19: 8,986,679 (GRCm39) D2654E unknown Het
Ak8 T A 2: 28,602,324 (GRCm39) I86N probably damaging Het
Apob G A 12: 8,040,780 (GRCm39) R635Q probably damaging Het
Atp10b G A 11: 43,150,700 (GRCm39) R1466H possibly damaging Het
Bltp1 A C 3: 36,939,557 (GRCm39) H137P probably damaging Het
Btnl9 T C 11: 49,066,866 (GRCm39) T252A unknown Het
Cacna1e T A 1: 154,358,314 (GRCm39) I648F probably damaging Het
Camkk1 A G 11: 72,917,412 (GRCm39) D121G probably benign Het
Cc2d1a C A 8: 84,860,144 (GRCm39) Q904H possibly damaging Het
Cd1d1 A G 3: 86,904,903 (GRCm39) S212P probably damaging Het
Cfap69 C T 5: 5,639,260 (GRCm39) C638Y probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clca4a A G 3: 144,659,594 (GRCm39) V754A probably benign Het
Cnpy4 T A 5: 138,190,900 (GRCm39) H187Q probably benign Het
Cpne5 A T 17: 29,407,261 (GRCm39) probably null Het
Crnkl1 A T 2: 145,767,515 (GRCm39) N359K probably benign Het
Cyb561 A T 11: 105,828,466 (GRCm39) L63H probably damaging Het
Dock4 A G 12: 40,775,676 (GRCm39) T540A probably benign Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Fstl5 A C 3: 76,337,131 (GRCm39) D230A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hecw1 T C 13: 14,493,494 (GRCm39) Q337R probably damaging Het
Hmcn1 A T 1: 150,632,343 (GRCm39) Y865N probably damaging Het
Hyal6 A G 6: 24,743,735 (GRCm39) Y477C probably damaging Het
Ifi205 C T 1: 173,842,640 (GRCm39) G352E probably damaging Het
Ifi205 T A 1: 173,842,644 (GRCm39) S351C probably damaging Het
Irak3 C A 10: 120,012,256 (GRCm39) Q169H probably benign Het
Itgb1 T A 8: 129,453,499 (GRCm39) N99K probably benign Het
Kng2 A G 16: 22,818,598 (GRCm39) F298S probably damaging Het
Kri1 T C 9: 21,192,380 (GRCm39) E256G Het
Lamc3 T C 2: 31,790,551 (GRCm39) I257T probably damaging Het
Mas1 A C 17: 13,061,374 (GRCm39) N16K possibly damaging Het
Mdn1 T A 4: 32,741,794 (GRCm39) L3855Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mybph G A 1: 134,125,246 (GRCm39) G258D probably benign Het
Mycbp2 A C 14: 103,364,533 (GRCm39) H4358Q probably damaging Het
Nat10 T C 2: 103,552,208 (GRCm39) D1012G unknown Het
Nub1 C A 5: 24,913,801 (GRCm39) Q561K probably benign Het
Nynrin A G 14: 56,107,980 (GRCm39) N1029S probably benign Het
Or52x1 A T 7: 104,853,252 (GRCm39) C99* probably null Het
Or56a4 T G 7: 104,806,401 (GRCm39) I163L probably benign Het
Or5k15 A G 16: 58,709,953 (GRCm39) F210S probably benign Het
Or6e1 A G 14: 54,520,169 (GRCm39) L61P probably damaging Het
Or8g19 C T 9: 39,055,548 (GRCm39) L51F probably benign Het
Pcsk1 T A 13: 75,280,277 (GRCm39) Y701N possibly damaging Het
Pglyrp4 C G 3: 90,640,295 (GRCm39) H182D probably damaging Het
Phaf1 T G 8: 105,957,820 (GRCm39) V42G probably damaging Het
Pkp4 C A 2: 59,152,881 (GRCm39) D576E probably damaging Het
Plec A G 15: 76,083,811 (GRCm39) V17A unknown Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Pou4f1 A T 14: 104,703,460 (GRCm39) M324K unknown Het
Ppa2 G T 3: 133,036,259 (GRCm39) G138W probably damaging Het
Prob1 A T 18: 35,785,285 (GRCm39) F990I possibly damaging Het
Proser1 T A 3: 53,380,969 (GRCm39) I182N probably damaging Het
Sgk3 T C 1: 9,952,016 (GRCm39) L214P probably damaging Het
Sipa1l1 T C 12: 82,496,762 (GRCm39) S1765P possibly damaging Het
Slc15a2 G A 16: 36,572,228 (GRCm39) S712L probably benign Het
Slc38a9 T C 13: 112,825,880 (GRCm39) L106P probably damaging Het
Slc43a2 G A 11: 75,453,900 (GRCm39) R271H probably damaging Het
Spsb4 T A 9: 96,877,643 (GRCm39) I227F probably damaging Het
Srgap3 C T 6: 112,752,520 (GRCm39) M321I probably benign Het
Stam2 T C 2: 52,596,418 (GRCm39) I340V probably benign Het
Tbc1d5 T A 17: 51,181,711 (GRCm39) R341* probably null Het
Terf2ip A C 8: 112,742,087 (GRCm39) E260D probably damaging Het
Tert G T 13: 73,797,051 (GRCm39) K1096N probably damaging Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Ube3d T A 9: 86,254,395 (GRCm39) Q362L possibly damaging Het
Unc5c G A 3: 141,474,313 (GRCm39) G295D probably damaging Het
Zcchc7 T C 4: 44,895,043 (GRCm39) probably null Het
Zfp619 A G 7: 39,186,226 (GRCm39) Q752R possibly damaging Het
Zkscan3 T C 13: 21,572,034 (GRCm39) K533E possibly damaging Het
Other mutations in Wnt7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02543:Wnt7b APN 15 85,443,097 (GRCm39) splice site probably benign
R0243:Wnt7b UTSW 15 85,443,103 (GRCm39) critical splice donor site probably null
R0735:Wnt7b UTSW 15 85,421,696 (GRCm39) missense probably damaging 1.00
R0835:Wnt7b UTSW 15 85,421,978 (GRCm39) missense probably damaging 1.00
R1917:Wnt7b UTSW 15 85,443,281 (GRCm39) missense probably damaging 1.00
R1919:Wnt7b UTSW 15 85,443,281 (GRCm39) missense probably damaging 1.00
R3914:Wnt7b UTSW 15 85,422,059 (GRCm39) missense possibly damaging 0.90
R5893:Wnt7b UTSW 15 85,465,575 (GRCm39) intron probably benign
R7483:Wnt7b UTSW 15 85,421,615 (GRCm39) missense possibly damaging 0.95
R7498:Wnt7b UTSW 15 85,427,880 (GRCm39) missense probably damaging 1.00
R8079:Wnt7b UTSW 15 85,421,646 (GRCm39) missense probably damaging 1.00
R8278:Wnt7b UTSW 15 85,427,887 (GRCm39) missense
R9382:Wnt7b UTSW 15 85,443,175 (GRCm39) missense probably damaging 1.00
R9506:Wnt7b UTSW 15 85,465,613 (GRCm39) missense unknown
Z1177:Wnt7b UTSW 15 85,443,270 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTGATCTCACGGGCATCC -3'
(R):5'- GGTCACTGCAGACACAAATGAC -3'

Sequencing Primer
(F):5'- GGGCATCCACAAAGCGACG -3'
(R):5'- AATGACCGTACTGTACCTGTCAGG -3'
Posted On 2019-11-26