Incidental Mutation 'R7814:Samd9l'
ID 601354
Institutional Source Beutler Lab
Gene Symbol Samd9l
Ensembl Gene ENSMUSG00000047735
Gene Name sterile alpha motif domain containing 9-like
Synonyms ESTM25
MMRRC Submission 045869-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7814 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 3372257-3399571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3374793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 823 (T823S)
Ref Sequence ENSEMBL: ENSMUSP00000112688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120087] [ENSMUST00000201638]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000120087
AA Change: T823S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: T823S

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
Meta Mutation Damage Score 0.1133 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (90/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik C T 4: 124,744,395 (GRCm39) G20R not run Het
Adamts13 A T 2: 26,886,561 (GRCm39) M927L probably benign Het
Akap6 T A 12: 53,187,744 (GRCm39) N1719K probably benign Het
Ank3 G A 10: 69,822,734 (GRCm39) V468M Het
Aox1 A G 1: 58,124,626 (GRCm39) T956A probably benign Het
Ap4m1 T C 5: 138,173,079 (GRCm39) V140A probably benign Het
Apc A G 18: 34,405,592 (GRCm39) T173A probably damaging Het
Bclaf1 A G 10: 20,210,365 (GRCm39) T839A possibly damaging Het
Btn2a2 T A 13: 23,666,976 (GRCm39) I210F possibly damaging Het
Cadps A G 14: 12,376,706 (GRCm38) W1269R probably damaging Het
Capn2 G C 1: 182,319,711 (GRCm39) P159R probably damaging Het
Cblif C A 19: 11,727,551 (GRCm39) P125Q probably benign Het
Ccdc134 T G 15: 82,015,724 (GRCm39) V68G probably damaging Het
Cdh26 A G 2: 178,111,828 (GRCm39) T463A probably damaging Het
Cfap206 C T 4: 34,716,347 (GRCm39) V373I probably benign Het
Clpx T C 9: 65,231,583 (GRCm39) probably null Het
Ctnnd2 A T 15: 31,020,874 (GRCm39) Y1145F probably benign Het
Ctr9 T A 7: 110,633,134 (GRCm39) D127E probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cyp7b1 G A 3: 18,151,466 (GRCm39) S249L probably benign Het
D630023F18Rik T A 1: 65,155,850 (GRCm39) D125V possibly damaging Het
Dbh A T 2: 27,064,860 (GRCm39) Y357F probably damaging Het
Dbp T A 7: 45,356,414 (GRCm39) L175Q probably benign Het
Dmwd A T 7: 18,814,768 (GRCm39) T473S probably benign Het
Dnah9 T A 11: 65,896,486 (GRCm39) Q2446L probably damaging Het
Dnmbp T C 19: 43,842,615 (GRCm39) K498R probably benign Het
Dop1b T A 16: 93,596,859 (GRCm39) I1924N probably damaging Het
Dsg1a T A 18: 20,471,572 (GRCm39) probably null Het
Dzank1 T C 2: 144,364,484 (GRCm39) T38A probably damaging Het
Egfem1 A G 3: 29,740,940 (GRCm39) H538R probably damaging Het
Entpd1 T C 19: 40,715,891 (GRCm39) C353R probably damaging Het
Ephx2 C A 14: 66,347,678 (GRCm39) C78F probably benign Het
Faf2 A T 13: 54,808,774 (GRCm39) H388L probably benign Het
Fam186a G A 15: 99,842,545 (GRCm39) T1233I possibly damaging Het
Gfra2 C A 14: 71,133,410 (GRCm39) A80E probably damaging Het
Gm17175 T A 14: 51,811,492 (GRCm39) probably benign Het
Gm8180 T C 14: 44,021,103 (GRCm39) D35G possibly damaging Het
Gpr68 C T 12: 100,845,302 (GRCm39) V81M probably damaging Het
Hsd3b6 A G 3: 98,718,259 (GRCm39) L35P probably damaging Het
Hspd1 A C 1: 55,117,803 (GRCm39) V485G possibly damaging Het
Il16 A G 7: 83,319,348 (GRCm39) V381A possibly damaging Het
Il17rd G A 14: 26,822,074 (GRCm39) C600Y probably benign Het
Ins2 C A 7: 142,233,323 (GRCm39) probably benign Het
Iqca1l G T 5: 24,750,420 (GRCm39) Q626K possibly damaging Het
Itsn2 T C 12: 4,708,561 (GRCm39) I872T probably benign Het
Jakmip3 A T 7: 138,620,858 (GRCm39) D219V probably damaging Het
Jph4 T C 14: 55,347,192 (GRCm39) T452A probably damaging Het
Kazn T C 4: 141,937,481 (GRCm39) E12G unknown Het
Kif20b A C 19: 34,928,355 (GRCm39) S1206R possibly damaging Het
Lca5l A G 16: 95,963,757 (GRCm39) probably null Het
Lgals2 A T 15: 78,735,533 (GRCm39) S60R probably benign Het
Lrrc37 T A 11: 103,504,999 (GRCm39) H2323L possibly damaging Het
Map10 A G 8: 126,398,350 (GRCm39) E581G probably benign Het
Map2k7 G T 8: 4,293,744 (GRCm39) R128L probably benign Het
Mapk8 G C 14: 33,132,834 (GRCm39) S34* probably null Het
Mcat A G 15: 83,432,110 (GRCm39) Y253H probably damaging Het
Mmp2 T C 8: 93,576,798 (GRCm39) L607P probably benign Het
Ncor1 A T 11: 62,224,752 (GRCm39) V836E probably damaging Het
Neb A G 2: 52,027,392 (GRCm39) S7113P probably damaging Het
Nphp4 T C 4: 152,608,729 (GRCm39) F446L possibly damaging Het
Nphp4 G T 4: 152,628,860 (GRCm39) D749Y probably damaging Het
Or14j4 T A 17: 37,921,547 (GRCm39) T32S probably benign Het
Or1j10 T C 2: 36,266,821 (GRCm39) I11T possibly damaging Het
Or4c99 A G 2: 88,329,416 (GRCm39) probably benign Het
Or5k8 T C 16: 58,644,365 (GRCm39) K236E probably damaging Het
Osbpl11 A T 16: 33,030,431 (GRCm39) R220* probably null Het
Plrg1 G A 3: 82,964,144 (GRCm39) V26M probably damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppfia3 A C 7: 45,001,686 (GRCm39) S560A probably benign Het
Ppp3cc T A 14: 70,462,464 (GRCm39) N391I possibly damaging Het
Prdx6b T C 2: 80,123,304 (GRCm39) S38P possibly damaging Het
Psg23 A T 7: 18,340,839 (GRCm39) *472R probably null Het
Rapgef4 A T 2: 72,053,461 (GRCm39) M587L probably benign Het
Rfx3 T A 19: 27,803,470 (GRCm39) M247L probably benign Het
Rgs7 T A 1: 174,903,635 (GRCm39) H463L probably benign Het
Riiad1 G T 3: 94,373,162 (GRCm39) S106R probably benign Het
Rims4 A C 2: 163,760,548 (GRCm39) I19S probably benign Het
Ros1 A T 10: 51,972,233 (GRCm39) M1648K probably benign Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Sfxn1 C A 13: 54,245,250 (GRCm39) P115Q possibly damaging Het
Slc10a7 T C 8: 79,425,202 (GRCm39) probably null Het
Slc25a16 A T 10: 62,773,199 (GRCm39) M142L probably benign Het
Stat2 CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC 10: 128,126,597 (GRCm39) probably benign Het
Stat5a T G 11: 100,765,853 (GRCm39) L313R probably damaging Het
Strap A G 6: 137,718,976 (GRCm39) E176G possibly damaging Het
Tlr4 T G 4: 66,759,316 (GRCm39) L703R probably damaging Het
Trim36 A T 18: 46,300,691 (GRCm39) V660D possibly damaging Het
Tspoap1 T A 11: 87,666,350 (GRCm39) D980E probably damaging Het
Usp28 T C 9: 48,915,218 (GRCm39) V157A probably benign Het
Vmn2r17 A T 5: 109,575,739 (GRCm39) R203S probably benign Het
Vmn2r66 T C 7: 84,656,472 (GRCm39) I181M probably benign Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp442 C T 2: 150,251,402 (GRCm39) D167N possibly 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
R7073:Samd9l UTSW 6 3,375,856 (GRCm39) nonsense probably null
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
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'- AGTTGCCTTTCAAGATCATGAACG -3'
(R):5'- AAGCAGAAGTTTCGGTGTGC -3'

Sequencing Primer
(F):5'- TGAACGAATAAAAGTTTTCACAGTTC -3'
(R):5'- CGGTGTGCTGTCTTGAAAAAC -3'
Posted On 2019-11-26