Incidental Mutation 'R7557:Smad5'
ID 584852
Institutional Source Beutler Lab
Gene Symbol Smad5
Ensembl Gene ENSMUSG00000021540
Gene Name SMAD family member 5
Synonyms Madh5, Smad 5, MusMLP
MMRRC Submission 045652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 56850823-56890190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56875282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 157 (F157L)
Ref Sequence ENSEMBL: ENSMUSP00000105502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069557] [ENSMUST00000109874] [ENSMUST00000109876]
AlphaFold P97454
Predicted Effect probably benign
Transcript: ENSMUST00000069557
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: F157L

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
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: F157L

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
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: F157L

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: ENSMUST00000138677
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,044 (GRCm39) Q1078* probably null Het
Aatk T C 11: 119,900,256 (GRCm39) K1310R possibly damaging Het
Acaa2 C T 18: 74,928,230 (GRCm39) T153M possibly damaging Het
Add3 A G 19: 53,227,868 (GRCm39) T518A probably damaging Het
Cacnb4 T C 2: 52,359,579 (GRCm39) E143G probably damaging Het
Cd209a T A 8: 3,795,541 (GRCm39) T177S probably benign Het
Chp1 T A 2: 119,391,238 (GRCm39) Y32N probably damaging Het
Clcn3 T C 8: 61,390,402 (GRCm39) T180A probably damaging Het
Dctn2 C A 10: 127,114,273 (GRCm39) T373N probably benign Het
Dipk2a T C 9: 94,402,591 (GRCm39) D357G probably damaging Het
Ecpas A G 4: 58,849,691 (GRCm39) Y483H possibly damaging Het
Emb T A 13: 117,386,252 (GRCm39) N136K probably benign Het
Enpp2 A T 15: 54,773,536 (GRCm39) C62S probably damaging Het
Fbxo28 G T 1: 182,169,000 (GRCm39) A52E unknown Het
Gask1b A T 3: 79,793,915 (GRCm39) K128* probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Ggta1 T C 2: 35,292,548 (GRCm39) D253G probably damaging Het
Gps1 C T 11: 120,677,193 (GRCm39) A164V probably benign Het
Gramd4 C T 15: 85,985,101 (GRCm39) Q146* probably null Het
Kcnh5 A T 12: 75,054,399 (GRCm39) M515K possibly damaging Het
Klrc3 T C 6: 129,616,107 (GRCm39) T203A probably damaging Het
Krt26 G T 11: 99,225,567 (GRCm39) R305S probably damaging Het
Lpin1 A G 12: 16,630,793 (GRCm39) V35A Het
Marf1 C T 16: 13,950,560 (GRCm39) R942H probably damaging Het
Mfhas1 T A 8: 36,056,758 (GRCm39) M411K possibly damaging Het
Mok A G 12: 110,774,833 (GRCm39) S330P probably benign Het
Msto1 A G 3: 88,817,435 (GRCm39) probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or10w1 T A 19: 13,632,390 (GRCm39) I199N possibly damaging Het
Pcdhgb4 T A 18: 37,855,847 (GRCm39) C747* probably null Het
Pih1d1 A G 7: 44,806,183 (GRCm39) T40A probably benign Het
Pih1d2 A T 9: 50,536,216 (GRCm39) E290D probably damaging Het
Plce1 A G 19: 38,753,848 (GRCm39) K1849E probably benign Het
Plekha5 T C 6: 140,372,271 (GRCm39) Y74H probably damaging Het
Pole T G 5: 110,460,860 (GRCm39) I1183S probably damaging Het
Ptgs1 T C 2: 36,135,223 (GRCm39) S396P possibly damaging Het
Rasa2 T C 9: 96,439,478 (GRCm39) E575G probably damaging Het
Sec22b A G 3: 97,808,674 (GRCm39) T5A probably damaging Het
Slc18a1 T A 8: 69,518,213 (GRCm39) D267V probably damaging Het
Tcea1 T A 1: 4,965,213 (GRCm39) C294* probably null Het
Tut7 T C 13: 59,936,280 (GRCm39) I1274V possibly damaging Het
Txndc15 T A 13: 55,865,767 (GRCm39) M77K probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,475 (GRCm39) V377D probably damaging Het
Vmn2r7 A G 3: 64,632,394 (GRCm39) Y23H probably benign Het
Vwa3a T A 7: 120,394,841 (GRCm39) M887K possibly damaging Het
Zbtb5 T C 4: 44,995,196 (GRCm39) N63D probably damaging 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
IGL02267:Smad5 APN 13 56,883,603 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGAACTTCCTGCTTCCAGAG -3'
(R):5'- ACTTCCAGGTCCAGAGCTTG -3'

Sequencing Primer
(F):5'- GAGTCCTTCACACAGGCTGAATG -3'
(R):5'- CAGAGCTTGCTGGGGAGTTG -3'
Posted On 2019-10-17