Incidental Mutation 'R7073:Samd9l'
ID 549025
Institutional Source Beutler Lab
Gene Symbol Samd9l
Ensembl Gene ENSMUSG00000047735
Gene Name sterile alpha motif domain containing 9-like
Synonyms ESTM25
MMRRC Submission 045169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 3372257-3399571 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 3375856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 468 (Y468*)
Ref Sequence ENSEMBL: ENSMUSP00000112688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120087] [ENSMUST00000201638]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000120087
AA Change: Y468*
SMART Domains Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: Y468*

DomainStartEndE-ValueType
SCOP:d1kw4a_ 8 75 4e-8 SMART
Blast:SAM 11 75 1e-30 BLAST
low complexity region 96 115 N/A INTRINSIC
low complexity region 385 397 N/A INTRINSIC
low complexity region 530 541 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201638
SMART Domains Protein: ENSMUSP00000144632
Gene: ENSMUSG00000047735

DomainStartEndE-ValueType
Pfam:Ste50p-SAM 10 80 1.2e-8 PFAM
Pfam:SAM_2 11 68 8.7e-6 PFAM
Pfam:SAM_1 12 71 2.5e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice that are either heterozygous or homozygous for a reporter allele develop myeloid diseases and acute myelogenous leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T G 13: 81,709,593 (GRCm39) E1133D probably damaging Het
Ankrd13b A T 11: 77,363,335 (GRCm39) D505E probably benign Het
Ano1 C T 7: 144,192,289 (GRCm39) E361K probably damaging Het
Arap3 T A 18: 38,107,495 (GRCm39) K1341* probably null Het
Arhgef17 A C 7: 100,579,198 (GRCm39) Y583* probably null Het
Ash1l G A 3: 88,892,647 (GRCm39) E1509K probably damaging Het
B430305J03Rik T G 3: 61,271,681 (GRCm39) R21S unknown Het
Bbof1 A G 12: 84,473,609 (GRCm39) E313G probably damaging Het
Catsperb C T 12: 101,475,497 (GRCm39) T347I probably benign Het
Ccdc24 G T 4: 117,729,201 (GRCm39) A92D probably damaging Het
Ccdc63 T C 5: 122,249,073 (GRCm39) T419A probably benign Het
Ccdc7a C T 8: 129,618,866 (GRCm39) V893I possibly damaging Het
Ccdc88b G T 19: 6,831,330 (GRCm39) D537E probably benign Het
Cd276 T C 9: 58,444,615 (GRCm39) S119G probably damaging Het
Cdkn3 T C 14: 47,004,647 (GRCm39) Y70H possibly damaging Het
Cdo1 G A 18: 46,861,266 (GRCm39) probably benign Het
Cdr2 A T 7: 120,581,247 (GRCm39) F10Y probably damaging Het
Cep290 A T 10: 100,374,865 (GRCm39) K1370N possibly damaging Het
Crb1 T A 1: 139,176,049 (GRCm39) I645F probably damaging Het
Cul7 T C 17: 46,969,657 (GRCm39) W975R probably damaging Het
Ddx39b A C 17: 35,471,826 (GRCm39) E324A probably benign Het
Diaph1 T G 18: 38,022,867 (GRCm39) probably null Het
Dnah2 G A 11: 69,321,318 (GRCm39) R3917* probably null Het
Dnph1 T A 17: 46,807,815 (GRCm39) L27Q probably damaging Het
Duox2 A G 2: 122,119,788 (GRCm39) F880S probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enpep A T 3: 129,106,319 (GRCm39) Y302* probably null Het
Ergic2 G T 6: 148,096,707 (GRCm39) H186Q probably damaging Het
Fam83b T C 9: 76,453,031 (GRCm39) D12G probably benign Het
Fbxw16 A T 9: 109,270,123 (GRCm39) V206D probably damaging Het
Fhod1 A T 8: 106,063,771 (GRCm39) V278D unknown Het
Gba2 G C 4: 43,573,753 (GRCm39) Q180E probably damaging Het
Grhl3 G A 4: 135,300,723 (GRCm39) L5F probably benign Het
H2-T15 A T 17: 36,369,235 (GRCm39) C7S unknown Het
Ifit1bl1 C T 19: 34,576,667 (GRCm39) probably null Het
Ift57 A G 16: 49,584,230 (GRCm39) T413A probably benign Het
Itga2 A G 13: 114,996,149 (GRCm39) F714S probably damaging Het
Jmy A G 13: 93,577,841 (GRCm39) S776P probably benign Het
Kbtbd8 G A 6: 95,098,814 (GRCm39) A108T probably damaging Het
Kpna6 G A 4: 129,548,139 (GRCm39) A230V probably damaging Het
Lrfn1 C T 7: 28,159,397 (GRCm39) L439F possibly damaging Het
Lrrc1 T A 9: 77,375,847 (GRCm39) I147F probably benign Het
Lrrc7 C T 3: 157,832,884 (GRCm39) G1425R probably damaging Het
Madd T A 2: 90,992,854 (GRCm39) I1022F probably damaging Het
Map2k2 A T 10: 80,942,017 (GRCm39) T13S probably benign Het
Mdc1 G A 17: 36,164,960 (GRCm39) V1459I probably benign Het
Mdh1b G A 1: 63,760,719 (GRCm39) T114M probably damaging Het
Mfsd2a T C 4: 122,845,088 (GRCm39) I208V possibly damaging Het
Mmrn1 T A 6: 60,965,411 (GRCm39) D1147E probably damaging Het
Nbeal2 T A 9: 110,455,177 (GRCm39) I2574F probably damaging Het
Nr1d1 T G 11: 98,662,892 (GRCm39) S34R probably damaging Het
Nr3c1 A T 18: 39,619,449 (GRCm39) D279E probably benign Het
Nrde2 T C 12: 100,098,747 (GRCm39) D640G probably benign Het
Odf4 A G 11: 68,817,514 (GRCm39) L58P probably damaging Het
Or4k41 A T 2: 111,279,631 (GRCm39) I49F probably benign Het
Or4p22 A T 2: 88,317,651 (GRCm39) I192F probably benign Het
Otud6b A C 4: 14,811,743 (GRCm39) M300R probably damaging Het
Pamr1 T A 2: 102,471,280 (GRCm39) D534E probably benign Het
Pcdh7 T A 5: 57,878,299 (GRCm39) V618E probably benign Het
Pcgf6 A C 19: 47,031,226 (GRCm39) N266K possibly damaging Het
Plcz1 A T 6: 139,968,849 (GRCm39) Y196* probably null Het
Plxna1 A T 6: 89,334,311 (GRCm39) L106Q probably damaging Het
Qrich2 G A 11: 116,337,701 (GRCm39) A184V probably damaging Het
Rimkla A G 4: 119,325,275 (GRCm39) L378S probably benign Het
Rufy1 G T 11: 50,295,290 (GRCm39) H472Q probably benign Het
Samd7 T A 3: 30,810,631 (GRCm39) M216K probably benign Het
Scn2a T G 2: 65,558,787 (GRCm39) L1194R probably benign Het
Sgo2a T A 1: 58,056,944 (GRCm39) S1043T possibly damaging Het
Slc6a17 G T 3: 107,378,755 (GRCm39) H642Q probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
St6galnac3 T A 3: 153,117,274 (GRCm39) T150S possibly damaging Het
Strip2 T A 6: 29,941,911 (GRCm39) I627N possibly damaging Het
Sv2c A T 13: 96,224,758 (GRCm39) C184S probably damaging Het
Tm7sf2 A T 19: 6,116,527 (GRCm39) probably null Het
Ttc28 T C 5: 111,371,282 (GRCm39) I608T possibly damaging Het
Vmn1r183 T G 7: 23,754,926 (GRCm39) L243R probably damaging Het
Vmn1r68 T C 7: 10,261,778 (GRCm39) T107A probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Zfp516 T A 18: 83,006,325 (GRCm39) probably null Het
Zpbp2 A G 11: 98,443,335 (GRCm39) D56G probably damaging Het
Other mutations in Samd9l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Samd9l APN 6 3,376,779 (GRCm39) missense probably damaging 0.96
IGL00550:Samd9l APN 6 3,374,594 (GRCm39) missense probably benign 0.00
IGL01100:Samd9l APN 6 3,375,863 (GRCm39) missense possibly damaging 0.91
IGL01321:Samd9l APN 6 3,376,259 (GRCm39) missense probably benign 0.42
IGL01553:Samd9l APN 6 3,375,566 (GRCm39) missense probably damaging 0.99
IGL01575:Samd9l APN 6 3,376,734 (GRCm39) missense possibly damaging 0.85
IGL01896:Samd9l APN 6 3,375,120 (GRCm39) missense probably benign 0.02
IGL01915:Samd9l APN 6 3,373,864 (GRCm39) nonsense probably null
IGL02063:Samd9l APN 6 3,372,992 (GRCm39) missense probably damaging 1.00
IGL02066:Samd9l APN 6 3,376,575 (GRCm39) missense probably damaging 1.00
IGL02145:Samd9l APN 6 3,374,105 (GRCm39) missense probably benign 0.13
IGL02163:Samd9l APN 6 3,374,246 (GRCm39) missense possibly damaging 0.90
IGL02256:Samd9l APN 6 3,376,197 (GRCm39) missense probably damaging 1.00
IGL02508:Samd9l APN 6 3,374,798 (GRCm39) missense probably damaging 1.00
IGL02591:Samd9l APN 6 3,375,760 (GRCm39) missense possibly damaging 0.91
IGL02968:Samd9l APN 6 3,376,026 (GRCm39) missense probably damaging 1.00
IGL03058:Samd9l APN 6 3,374,980 (GRCm39) missense probably damaging 0.99
IGL03068:Samd9l APN 6 3,375,348 (GRCm39) nonsense probably null
IGL03160:Samd9l APN 6 3,374,894 (GRCm39) missense probably damaging 1.00
IGL03372:Samd9l APN 6 3,375,314 (GRCm39) missense probably damaging 1.00
IGL03385:Samd9l APN 6 3,376,208 (GRCm39) missense probably damaging 0.99
boston_lager UTSW 6 3,375,761 (GRCm39) missense probably benign 0.12
ipa UTSW 6 3,376,347 (GRCm39) missense probably damaging 1.00
Paine UTSW 6 3,372,716 (GRCm39) missense probably damaging 0.99
samad UTSW 6 3,374,032 (GRCm39) nonsense probably null
IGL03054:Samd9l UTSW 6 3,376,023 (GRCm39) missense probably damaging 1.00
R0111:Samd9l UTSW 6 3,374,946 (GRCm39) missense possibly damaging 0.80
R0112:Samd9l UTSW 6 3,376,031 (GRCm39) missense possibly damaging 0.93
R0356:Samd9l UTSW 6 3,375,107 (GRCm39) missense possibly damaging 0.69
R0370:Samd9l UTSW 6 3,377,264 (GRCm39) start gained probably benign
R0398:Samd9l UTSW 6 3,374,502 (GRCm39) missense probably damaging 1.00
R0744:Samd9l UTSW 6 3,372,725 (GRCm39) missense possibly damaging 0.92
R0833:Samd9l UTSW 6 3,372,725 (GRCm39) missense possibly damaging 0.92
R0880:Samd9l UTSW 6 3,377,064 (GRCm39) missense probably damaging 0.99
R1110:Samd9l UTSW 6 3,374,267 (GRCm39) missense probably benign 0.44
R1155:Samd9l UTSW 6 3,376,939 (GRCm39) missense probably benign 0.01
R1268:Samd9l UTSW 6 3,376,113 (GRCm39) missense possibly damaging 0.56
R1293:Samd9l UTSW 6 3,373,947 (GRCm39) missense possibly damaging 0.93
R1478:Samd9l UTSW 6 3,376,369 (GRCm39) missense probably benign 0.06
R1573:Samd9l UTSW 6 3,375,426 (GRCm39) missense probably damaging 0.99
R1590:Samd9l UTSW 6 3,375,761 (GRCm39) missense probably benign 0.12
R1611:Samd9l UTSW 6 3,373,771 (GRCm39) missense probably benign 0.00
R1754:Samd9l UTSW 6 3,373,126 (GRCm39) missense probably damaging 0.96
R1759:Samd9l UTSW 6 3,373,401 (GRCm39) missense probably damaging 1.00
R1795:Samd9l UTSW 6 3,375,264 (GRCm39) nonsense probably null
R1829:Samd9l UTSW 6 3,375,107 (GRCm39) missense possibly damaging 0.69
R1935:Samd9l UTSW 6 3,376,269 (GRCm39) missense probably benign 0.01
R2154:Samd9l UTSW 6 3,372,945 (GRCm39) missense possibly damaging 0.91
R2228:Samd9l UTSW 6 3,376,910 (GRCm39) missense probably benign 0.08
R3622:Samd9l UTSW 6 3,374,032 (GRCm39) nonsense probably null
R3903:Samd9l UTSW 6 3,376,830 (GRCm39) nonsense probably null
R3904:Samd9l UTSW 6 3,376,830 (GRCm39) nonsense probably null
R3945:Samd9l UTSW 6 3,377,029 (GRCm39) missense possibly damaging 0.71
R4091:Samd9l UTSW 6 3,376,887 (GRCm39) missense probably benign 0.22
R4602:Samd9l UTSW 6 3,373,937 (GRCm39) frame shift probably null
R4602:Samd9l UTSW 6 3,373,935 (GRCm39) missense probably damaging 1.00
R4618:Samd9l UTSW 6 3,376,347 (GRCm39) missense probably damaging 1.00
R4747:Samd9l UTSW 6 3,375,504 (GRCm39) nonsense probably null
R4762:Samd9l UTSW 6 3,375,623 (GRCm39) missense probably benign 0.01
R4814:Samd9l UTSW 6 3,372,863 (GRCm39) missense probably damaging 0.98
R4934:Samd9l UTSW 6 3,375,621 (GRCm39) nonsense probably null
R5026:Samd9l UTSW 6 3,375,284 (GRCm39) missense possibly damaging 0.75
R5048:Samd9l UTSW 6 3,374,157 (GRCm39) missense probably benign 0.35
R5130:Samd9l UTSW 6 3,374,548 (GRCm39) missense possibly damaging 0.69
R5271:Samd9l UTSW 6 3,376,156 (GRCm39) missense probably benign 0.02
R5328:Samd9l UTSW 6 3,376,739 (GRCm39) missense probably damaging 0.99
R5507:Samd9l UTSW 6 3,373,898 (GRCm39) missense possibly damaging 0.78
R5587:Samd9l UTSW 6 3,373,291 (GRCm39) missense possibly damaging 0.84
R5846:Samd9l UTSW 6 3,376,754 (GRCm39) missense probably benign
R5881:Samd9l UTSW 6 3,372,716 (GRCm39) missense possibly damaging 0.70
R5889:Samd9l UTSW 6 3,376,460 (GRCm39) missense probably damaging 1.00
R6131:Samd9l UTSW 6 3,377,252 (GRCm39) missense probably benign 0.00
R6199:Samd9l UTSW 6 3,376,686 (GRCm39) missense probably benign 0.13
R6298:Samd9l UTSW 6 3,375,383 (GRCm39) missense probably damaging 1.00
R6331:Samd9l UTSW 6 3,376,361 (GRCm39) missense probably damaging 1.00
R6489:Samd9l UTSW 6 3,376,896 (GRCm39) missense probably benign
R6601:Samd9l UTSW 6 3,377,229 (GRCm39) missense possibly damaging 0.74
R6655:Samd9l UTSW 6 3,377,247 (GRCm39) missense probably benign 0.22
R6803:Samd9l UTSW 6 3,375,446 (GRCm39) missense probably damaging 0.97
R6864:Samd9l UTSW 6 3,374,750 (GRCm39) missense probably benign 0.14
R6905:Samd9l UTSW 6 3,375,387 (GRCm39) missense probably damaging 0.99
R6919:Samd9l UTSW 6 3,376,313 (GRCm39) missense possibly damaging 0.88
R7060:Samd9l UTSW 6 3,372,716 (GRCm39) missense probably damaging 0.99
R7250:Samd9l UTSW 6 3,374,201 (GRCm39) missense possibly damaging 0.78
R7307:Samd9l UTSW 6 3,372,600 (GRCm39) nonsense probably null
R7351:Samd9l UTSW 6 3,374,157 (GRCm39) missense probably benign 0.35
R7423:Samd9l UTSW 6 3,374,408 (GRCm39) missense probably damaging 1.00
R7610:Samd9l UTSW 6 3,376,754 (GRCm39) missense probably benign
R7667:Samd9l UTSW 6 3,375,975 (GRCm39) missense possibly damaging 0.87
R7672:Samd9l UTSW 6 3,373,646 (GRCm39) missense probably benign 0.16
R7680:Samd9l UTSW 6 3,376,469 (GRCm39) missense probably damaging 1.00
R7680:Samd9l UTSW 6 3,372,569 (GRCm39) missense probably damaging 1.00
R7814:Samd9l UTSW 6 3,374,793 (GRCm39) missense possibly damaging 0.86
R7829:Samd9l UTSW 6 3,374,749 (GRCm39) missense probably benign 0.00
R8000:Samd9l UTSW 6 3,373,034 (GRCm39) missense probably damaging 1.00
R8098:Samd9l UTSW 6 3,375,549 (GRCm39) missense probably damaging 1.00
R8698:Samd9l UTSW 6 3,373,843 (GRCm39) missense probably benign 0.06
R8785:Samd9l UTSW 6 3,377,064 (GRCm39) missense probably damaging 0.99
R8795:Samd9l UTSW 6 3,374,221 (GRCm39) nonsense probably null
R8806:Samd9l UTSW 6 3,376,665 (GRCm39) missense probably damaging 0.99
R8832:Samd9l UTSW 6 3,374,990 (GRCm39) missense probably damaging 1.00
R8954:Samd9l UTSW 6 3,374,577 (GRCm39) missense probably damaging 0.98
R9023:Samd9l UTSW 6 3,373,791 (GRCm39) missense probably damaging 1.00
R9051:Samd9l UTSW 6 3,373,493 (GRCm39) missense probably benign 0.16
R9108:Samd9l UTSW 6 3,373,104 (GRCm39) missense possibly damaging 0.71
R9213:Samd9l UTSW 6 3,376,856 (GRCm39) missense probably benign 0.23
R9494:Samd9l UTSW 6 3,375,830 (GRCm39) missense possibly damaging 0.51
R9504:Samd9l UTSW 6 3,372,621 (GRCm39) missense probably benign 0.17
R9655:Samd9l UTSW 6 3,373,578 (GRCm39) missense probably benign 0.00
R9688:Samd9l UTSW 6 3,377,087 (GRCm39) missense probably damaging 1.00
R9696:Samd9l UTSW 6 3,375,078 (GRCm39) missense possibly damaging 0.76
R9721:Samd9l UTSW 6 3,375,854 (GRCm39) missense possibly damaging 0.69
X0026:Samd9l UTSW 6 3,375,560 (GRCm39) missense probably damaging 1.00
X0066:Samd9l UTSW 6 3,374,477 (GRCm39) missense probably damaging 1.00
Z1176:Samd9l UTSW 6 3,376,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCTGTGAGGAATGAAATAAGTC -3'
(R):5'- ACAGCGTCTAGAAAAGCGGC -3'

Sequencing Primer
(F):5'- GGAATGAAATAAGTCTTCTAACCCC -3'
(R):5'- TGTCTAAACTTTTGACCAGACACC -3'
Posted On 2019-05-15