Incidental Mutation 'IGL02267:Smad5'
ID 286970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad5
Ensembl Gene ENSMUSG00000021540
Gene Name SMAD family member 5
Synonyms Madh5, Smad 5, MusMLP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02267
Quality Score
Status
Chromosome 13
Chromosomal Location 56850823-56890190 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 56883603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069557] [ENSMUST00000109874] [ENSMUST00000109876]
AlphaFold P97454
Predicted Effect probably benign
Transcript: ENSMUST00000069557
SMART Domains Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109874
SMART Domains Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109876
SMART Domains Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138677
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,683,505 (GRCm39) Q929R probably benign Het
Aplf A T 6: 87,635,946 (GRCm39) D122E probably damaging Het
Atp2a3 T A 11: 72,878,810 (GRCm39) L874Q probably damaging Het
Atp2b2 A T 6: 113,770,691 (GRCm39) L406Q probably damaging Het
Atp6v1b1 A G 6: 83,733,891 (GRCm39) D374G probably benign Het
Bcas1 T A 2: 170,220,708 (GRCm39) R239* probably null Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Ccdc157 G A 11: 4,094,035 (GRCm39) A532V probably benign Het
Cd300lb G A 11: 114,819,303 (GRCm39) R109* probably null Het
Clca4c-ps T C 3: 144,585,516 (GRCm39) noncoding transcript Het
Ctnna3 G T 10: 64,781,777 (GRCm39) V747F probably benign Het
Cyp2c29 A T 19: 39,318,866 (GRCm39) I488F probably benign Het
Cyp3a25 T C 5: 145,935,362 (GRCm39) M85V possibly damaging Het
Dnah7b T A 1: 46,266,090 (GRCm39) Y2220N probably damaging Het
Espl1 A G 15: 102,224,099 (GRCm39) I1217V probably benign Het
Exoc2 A G 13: 30,999,304 (GRCm39) S918P probably benign Het
Fer1l4 T A 2: 155,873,172 (GRCm39) I1303F possibly damaging Het
Gm28047 A T 15: 102,455,662 (GRCm39) I234K probably damaging Het
Gpcpd1 A G 2: 132,410,630 (GRCm39) V19A probably damaging Het
Gprin3 A G 6: 59,331,458 (GRCm39) V283A probably benign Het
Grb14 A G 2: 64,783,960 (GRCm39) Y56H probably damaging Het
Greb1 A G 12: 16,767,209 (GRCm39) F331S probably benign Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Jkamp A G 12: 72,141,591 (GRCm39) Y198C probably damaging Het
Klk1b11 G T 7: 43,649,165 (GRCm39) C234F probably damaging Het
Nacad T C 11: 6,552,649 (GRCm39) T181A probably benign Het
Or1e23 A G 11: 73,407,375 (GRCm39) S217P probably benign Het
Or2m13 A T 16: 19,225,914 (GRCm39) L285Q possibly damaging Het
Or5ak4 T A 2: 85,161,465 (GRCm39) Y259F probably damaging Het
Pitpnm3 A T 11: 71,962,274 (GRCm39) I227N probably benign Het
Pnn A G 12: 59,116,995 (GRCm39) E189G probably damaging Het
Pnpla2 C A 7: 141,038,122 (GRCm39) P197T probably damaging Het
Pnpla6 A G 8: 3,567,327 (GRCm39) T62A probably benign Het
Ptprq G T 10: 107,482,419 (GRCm39) D1051E probably damaging Het
Rag2 C T 2: 101,460,376 (GRCm39) R229C probably damaging Het
Serinc1 A T 10: 57,399,204 (GRCm39) I196N probably damaging Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,680,583 (GRCm39) C43R probably damaging Het
Slc2a3 A T 6: 122,716,931 (GRCm39) Y44N probably benign Het
Sugct C A 13: 17,819,450 (GRCm39) V132F possibly damaging Het
Supt6 T C 11: 78,117,030 (GRCm39) E568G possibly damaging Het
Tfpt T C 7: 3,631,982 (GRCm39) T43A probably damaging Het
Timp4 A T 6: 115,224,240 (GRCm39) V143E possibly damaging Het
Tns1 T C 1: 74,031,290 (GRCm39) D275G possibly damaging Het
Trib1 A G 15: 59,523,449 (GRCm39) E161G probably damaging Het
Trpc7 A T 13: 57,008,743 (GRCm39) L308Q probably damaging Het
Ush1c A T 7: 45,858,722 (GRCm39) V522E possibly damaging Het
Usp28 T C 9: 48,935,265 (GRCm39) V449A probably damaging Het
Vmn1r82 A G 7: 12,039,273 (GRCm39) Y64C probably damaging Het
Wwox G A 8: 115,438,805 (GRCm39) M290I probably benign Het
Other mutations in Smad5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Smad5 APN 13 56,871,480 (GRCm39) missense probably benign 0.11
IGL01407:Smad5 APN 13 56,883,630 (GRCm39) missense probably benign 0.00
IGL03014:Smad5 UTSW 13 56,883,754 (GRCm39) missense probably damaging 1.00
R1317:Smad5 UTSW 13 56,883,884 (GRCm39) splice site probably benign
R2001:Smad5 UTSW 13 56,885,187 (GRCm39) missense probably damaging 0.99
R5401:Smad5 UTSW 13 56,875,282 (GRCm39) missense probably benign 0.00
R5551:Smad5 UTSW 13 56,883,654 (GRCm39) missense probably damaging 1.00
R5734:Smad5 UTSW 13 56,871,617 (GRCm39) missense probably damaging 1.00
R5796:Smad5 UTSW 13 56,871,645 (GRCm39) missense probably damaging 0.98
R5988:Smad5 UTSW 13 56,883,798 (GRCm39) missense probably damaging 0.99
R7557:Smad5 UTSW 13 56,875,282 (GRCm39) missense probably benign 0.00
R7769:Smad5 UTSW 13 56,880,855 (GRCm39) missense possibly damaging 0.95
R8110:Smad5 UTSW 13 56,871,701 (GRCm39) missense probably damaging 1.00
R9215:Smad5 UTSW 13 56,880,815 (GRCm39) missense probably damaging 1.00
R9369:Smad5 UTSW 13 56,885,242 (GRCm39) missense possibly damaging 0.86
R9432:Smad5 UTSW 13 56,875,417 (GRCm39) missense probably benign 0.00
Z1088:Smad5 UTSW 13 56,876,441 (GRCm39) missense probably benign
Posted On 2015-04-16