Incidental Mutation 'R0835:Wnt7b'
ID 77852
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 039014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0835 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 85419638-85466022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85421978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 228 (F228S)
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: F228S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023015
Gene: ENSMUSG00000022382
AA Change: F228S

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
WNT1 40 349 1.29e-214 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109424
AA Change: F221S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105051
Gene: ENSMUSG00000022382
AA Change: F221S

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: F154S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130627
Gene: ENSMUSG00000022382
AA Change: F154S

DomainStartEndE-ValueType
WNT1 1 282 1.21e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229191
AA Change: F225S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000229495
AA Change: F154S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G probably 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
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
R7787:Wnt7b UTSW 15 85,428,112 (GRCm39) missense probably damaging 0.99
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'- GTTGGGCGACTTCTCGATGTACAC -3'
(R):5'- GGTCCCATTTCCTCATTAGGGCTG -3'

Sequencing Primer
(F):5'- GATGTACACCAGGTCCGTCTC -3'
(R):5'- CTATTCCTAGCAGCTCAGAGAGG -3'
Posted On 2013-10-16