Incidental Mutation 'R1759:Samd9l'
ID 195177
Institutional Source Beutler Lab
Gene Symbol Samd9l
Ensembl Gene ENSMUSG00000047735
Gene Name sterile alpha motif domain containing 9-like
Synonyms ESTM25
MMRRC Submission 039791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1759 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 3372257-3399571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 3373401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1287 (V1287F)
Ref Sequence ENSEMBL: ENSMUSP00000112688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120087] [ENSMUST00000201638]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000120087
AA Change: V1287F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: V1287F

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.5%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,272 (GRCm39) M53L possibly damaging Het
Abca5 T C 11: 110,184,674 (GRCm39) D944G probably benign Het
Ankdd1b T C 13: 96,556,211 (GRCm39) Y433C probably damaging Het
Aox3 A G 1: 58,209,805 (GRCm39) probably null Het
Ap1g1 G A 8: 110,559,853 (GRCm39) G260E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a4 T A 16: 29,275,429 (GRCm39) T352S probably damaging Het
Ccdc33 T A 9: 58,024,729 (GRCm39) N166Y possibly damaging Het
Ces2h T A 8: 105,743,243 (GRCm39) D159E probably damaging Het
Chd1 T A 17: 17,607,533 (GRCm39) D360E probably benign Het
Col16a1 G T 4: 129,978,062 (GRCm39) G781V probably damaging Het
Col6a5 T A 9: 105,808,045 (GRCm39) E1001V unknown Het
Cracdl A T 1: 37,664,791 (GRCm39) I369N probably benign Het
Cyp3a59 T G 5: 146,035,060 (GRCm39) M246R probably benign Het
Dcn T C 10: 97,349,517 (GRCm39) V263A probably benign Het
Dnttip2 A G 3: 122,069,798 (GRCm39) N338D probably benign Het
Entpd1 G T 19: 40,600,968 (GRCm39) probably null Het
Epb41l1 A G 2: 156,363,894 (GRCm39) D801G probably benign Het
Fam186a T A 15: 99,864,762 (GRCm39) K23* probably null Het
Gbe1 T C 16: 70,284,929 (GRCm39) M417T probably benign Het
Gmnc T A 16: 26,784,497 (GRCm39) S3C possibly damaging Het
Gpr156 T C 16: 37,768,583 (GRCm39) S35P probably damaging Het
Grid1 T C 14: 35,167,988 (GRCm39) M504T possibly damaging Het
Gsdma3 T C 11: 98,526,071 (GRCm39) V265A possibly damaging Het
Hsd3b3 A T 3: 98,649,399 (GRCm39) I308N probably damaging Het
Inpp4b A G 8: 82,494,732 (GRCm39) D49G probably benign Het
Ipmk C A 10: 71,217,133 (GRCm39) Q227K probably damaging Het
Kalrn T A 16: 34,181,320 (GRCm39) D88V probably damaging Het
Kansl1l C T 1: 66,841,047 (GRCm39) M84I probably damaging Het
Kcnab2 T G 4: 152,477,509 (GRCm39) K363Q probably damaging Het
Kdm7a C A 6: 39,124,633 (GRCm39) probably null Het
Kiss1r T C 10: 79,757,612 (GRCm39) L322P probably damaging Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lrpprc T C 17: 85,047,509 (GRCm39) K908E probably damaging Het
Mak C A 13: 41,210,110 (GRCm39) W42L probably damaging Het
Map3k21 A G 8: 126,671,519 (GRCm39) T936A probably benign Het
Marchf7 C T 2: 60,064,888 (GRCm39) S388F probably damaging Het
Matcap1 A T 8: 106,012,182 (GRCm39) S88R probably damaging Het
Mgat2 A T 12: 69,232,301 (GRCm39) I292F probably benign Het
Myh3 C A 11: 66,987,717 (GRCm39) R1397S probably damaging Het
Myo5a A G 9: 75,089,275 (GRCm39) D1135G possibly damaging Het
N4bp2 A G 5: 65,983,956 (GRCm39) E1667G probably damaging Het
Nbr1 A G 11: 101,450,369 (GRCm39) T43A probably damaging Het
Nip7 A G 8: 107,784,767 (GRCm39) N124S probably benign Het
Or3a1 G A 11: 74,225,808 (GRCm39) S83F possibly damaging Het
Or51l14 T C 7: 103,101,356 (GRCm39) S271P probably benign Het
Or6c75 T A 10: 129,336,775 (GRCm39) S7R probably benign Het
Or7g25 C T 9: 19,160,384 (GRCm39) V104I probably benign Het
Or8b55 T C 9: 38,727,194 (GRCm39) Y132H probably damaging Het
Otoa T C 7: 120,733,326 (GRCm39) L731P probably damaging Het
Pcnx2 G A 8: 126,500,717 (GRCm39) P1458S probably damaging Het
Pfpl A G 19: 12,407,224 (GRCm39) T492A probably damaging Het
Pgm1 A G 4: 99,824,305 (GRCm39) D326G probably damaging Het
Plekhh1 T A 12: 79,119,535 (GRCm39) Y953N probably damaging Het
Pnkd G A 1: 74,387,922 (GRCm39) A195T probably damaging Het
Ppib C T 9: 65,968,764 (GRCm39) Q51* probably null Het
Ppip5k1 G T 2: 121,181,067 (GRCm39) T13K probably benign Het
Psmg2 A T 18: 67,781,246 (GRCm39) S113C probably benign Het
Rapgef2 A G 3: 78,974,038 (GRCm39) M1584T possibly damaging Het
Rbm12b1 A C 4: 12,145,424 (GRCm39) R465S probably damaging Het
Reln A G 5: 22,215,287 (GRCm39) Y1055H probably damaging Het
Ros1 A T 10: 51,996,922 (GRCm39) I1250K probably damaging Het
Sgce A T 6: 4,689,765 (GRCm39) I356N probably damaging Het
Sh3tc1 C T 5: 35,863,248 (GRCm39) E980K possibly damaging Het
Sil1 T C 18: 35,551,151 (GRCm39) E68G possibly damaging Het
Slc18a1 A G 8: 69,518,237 (GRCm39) I259T possibly damaging Het
Slc6a20b A C 9: 123,438,062 (GRCm39) probably null Het
Smg7 G T 1: 152,724,597 (GRCm39) T536K probably benign Het
Smyd4 A G 11: 75,273,192 (GRCm39) Y84C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorbs2 A T 8: 46,216,056 (GRCm39) *50C probably null Het
Speg A T 1: 75,377,806 (GRCm39) M855L possibly damaging Het
Srrt G T 5: 137,301,212 (GRCm39) H71Q probably damaging Het
St6galnac5 A G 3: 152,552,130 (GRCm39) S146P probably damaging Het
Syne1 T A 10: 5,299,369 (GRCm39) Q962L probably damaging Het
Tiam2 A G 17: 3,566,278 (GRCm39) H1441R probably damaging Het
Tmem45a C T 16: 56,642,765 (GRCm39) M135I probably benign Het
Tpr A T 1: 150,305,275 (GRCm39) E1521D probably benign Het
Uba3 C T 6: 97,173,865 (GRCm39) G107R probably damaging Het
Unc45b G T 11: 82,820,325 (GRCm39) V590F probably benign Het
Vmn1r14 A T 6: 57,211,297 (GRCm39) T292S probably benign Het
Vmn2r102 T A 17: 19,914,755 (GRCm39) N773K probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Wfs1 G C 5: 37,124,359 (GRCm39) A844G probably damaging Het
Zfp398 A G 6: 47,836,412 (GRCm39) T71A possibly damaging Het
Zfp507 C A 7: 35,475,403 (GRCm39) A145S probably damaging Het
Zfp971 A T 2: 177,675,722 (GRCm39) E440D 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
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
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'- GTCAGCACCTTTGACAGTTGCTTG -3'
(R):5'- AGGCATGGTCACCACAGAATTCCC -3'

Sequencing Primer
(F):5'- CCTGTAATAGGAAGGTATAGTTTCCC -3'
(R):5'- GAAGTAGGTCTTGACACTATCCAGC -3'
Posted On 2014-05-23