Incidental Mutation 'R8110:Smad5'
ID 630825
Institutional Source Beutler Lab
Gene Symbol Smad5
Ensembl Gene ENSMUSG00000021540
Gene Name SMAD family member 5
Synonyms Madh5, Smad 5, MusMLP
MMRRC Submission 067539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8110 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 56850823-56890190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56871701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 99 (Q99K)
Ref Sequence ENSEMBL: ENSMUSP00000065798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069557] [ENSMUST00000109874] [ENSMUST00000109876]
AlphaFold P97454
Predicted Effect probably damaging
Transcript: ENSMUST00000069557
AA Change: Q99K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: Q99K

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 damaging
Transcript: ENSMUST00000109874
AA Change: Q99K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: Q99K

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 damaging
Transcript: ENSMUST00000109876
AA Change: Q99K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: Q99K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.1%
Validation Efficiency 99% (73/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd45 T C 1: 160,978,889 (GRCm39) probably null Het
Appl1 C A 14: 26,649,751 (GRCm39) G592* probably null Het
Arfgef2 T A 2: 166,720,464 (GRCm39) M1501K probably benign Het
Calcrl C T 2: 84,169,683 (GRCm39) A333T probably damaging Het
Cd200r3 T A 16: 44,771,835 (GRCm39) I33N probably benign Het
Ceacam15 A G 7: 16,407,334 (GRCm39) L61P probably benign Het
Cfap69 T A 5: 5,632,515 (GRCm39) H827L possibly damaging Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Cyp2u1 G A 3: 131,087,303 (GRCm39) T426I probably damaging Het
Eefsec A C 6: 88,353,312 (GRCm39) I119S probably damaging Het
Fem1b T C 9: 62,703,550 (GRCm39) N570S probably damaging Het
Fmo9 A G 1: 166,491,095 (GRCm39) M461T probably benign Het
Fryl A G 5: 73,290,620 (GRCm39) Y95H probably benign Het
Fsip2 T C 2: 82,789,017 (GRCm39) I346T probably benign Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gabbr1 G C 17: 37,359,475 (GRCm39) S150T probably benign Het
Galnt9 G T 5: 110,763,339 (GRCm39) W448L probably damaging Het
Gcnt2 G T 13: 41,071,198 (GRCm39) probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Hectd4 A G 5: 121,471,012 (GRCm39) Y2633C possibly damaging Het
Hsd11b2 A G 8: 106,249,266 (GRCm39) I214V probably damaging Het
Hspa12a T A 19: 58,809,445 (GRCm39) E217V possibly damaging Het
Itih2 A G 2: 10,101,948 (GRCm39) F845L probably damaging Het
Kcnn3 T A 3: 89,568,540 (GRCm39) L606H probably damaging Het
Krt6b G A 15: 101,588,577 (GRCm39) R28C probably damaging Het
Lama2 T A 10: 26,866,866 (GRCm39) D2876V probably damaging Het
Lmbrd2 T C 15: 9,175,279 (GRCm39) S397P probably damaging Het
Lmf2 C T 15: 89,236,561 (GRCm39) probably null Het
Lrp2 A G 2: 69,336,797 (GRCm39) I1325T probably benign Het
Ltbp2 A T 12: 84,850,676 (GRCm39) C879* probably null Het
Map3k1 A G 13: 111,891,847 (GRCm39) V1136A probably damaging Het
Mettl3 G T 14: 52,537,709 (GRCm39) H84N probably benign Het
Mia2 A G 12: 59,155,873 (GRCm39) probably null Het
Mlip G T 9: 77,146,861 (GRCm39) T92K probably damaging Het
Nalcn T A 14: 123,702,113 (GRCm39) Y466F probably benign Het
Nav2 T A 7: 49,201,698 (GRCm39) L235* probably null Het
Nbn T C 4: 15,981,588 (GRCm39) V560A probably benign Het
Ncln A T 10: 81,328,987 (GRCm39) Y144N possibly damaging Het
Nfe2l2 A C 2: 75,509,765 (GRCm39) D18E probably benign Het
Or10aa3 G A 1: 173,878,091 (GRCm39) A51T probably benign Het
Or12d2 A G 17: 37,624,604 (GRCm39) F224L probably benign Het
Or1ak2 T C 2: 36,827,721 (GRCm39) C197R possibly damaging Het
Or5w11 T C 2: 87,458,951 (GRCm39) I48T possibly damaging Het
Otop3 A T 11: 115,230,221 (GRCm39) M33L probably benign Het
Pate7 T C 9: 35,689,329 (GRCm39) *84W probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phf14 T C 6: 11,953,422 (GRCm39) I387T possibly damaging Het
Prb1c C T 6: 132,338,531 (GRCm39) G229D unknown Het
Prdm9 T A 17: 15,774,960 (GRCm39) N318Y probably damaging Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Prune2 G A 19: 17,098,083 (GRCm39) G1196S probably benign Het
Psd3 T A 8: 68,573,708 (GRCm39) S158C probably damaging Het
Rps18 A G 17: 34,174,110 (GRCm39) V15A probably benign Het
Sanbr G T 11: 23,526,764 (GRCm39) T696N probably benign Het
Sharpin C A 15: 76,231,965 (GRCm39) R271L possibly damaging Het
Sox5 T C 6: 144,062,200 (GRCm39) M151V possibly damaging Het
Sphkap A T 1: 83,256,492 (GRCm39) F419Y possibly damaging Het
Tbx20 T A 9: 24,636,821 (GRCm39) Y422F probably damaging Het
Tcirg1 A C 19: 3,949,099 (GRCm39) F397V probably damaging Het
Tex36 G A 7: 133,197,012 (GRCm39) S35F possibly damaging Het
Tsen54 G T 11: 115,705,760 (GRCm39) A26S unknown Het
Usp50 T A 2: 126,622,250 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,398,709 (GRCm39) F757I probably benign Het
Zbbx T C 3: 75,062,749 (GRCm39) T3A possibly damaging Het
Zfp28 T A 7: 6,392,828 (GRCm39) M168K probably benign Het
Zfp568 G T 7: 29,722,551 (GRCm39) G499W probably damaging Het
Zfp7 C G 15: 76,775,131 (GRCm39) P391R possibly 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
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
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'- TTGTTGGGCTGGAAACAAGG -3'
(R):5'- ACAGCCTTTTCGCTAATAAGCC -3'

Sequencing Primer
(F):5'- CTTTAGTGAAAAAGCTGAAGAAGAAG -3'
(R):5'- CGCTAATAAGCCTAGTTGTATGC -3'
Posted On 2020-06-30