Incidental Mutation 'R8413:Samd11'
ID 652781
Institutional Source Beutler Lab
Gene Symbol Samd11
Ensembl Gene ENSMUSG00000096351
Gene Name sterile alpha motif domain containing 11
Synonyms mr-s
MMRRC Submission 067767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156331423-156340717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156333730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 200 (G200D)
Ref Sequence ENSEMBL: ENSMUSP00000136611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000179919] [ENSMUST00000217934] [ENSMUST00000218788] [ENSMUST00000219393] [ENSMUST00000220228]
AlphaFold Q1RNF8
Predicted Effect probably benign
Transcript: ENSMUST00000179543
SMART Domains Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
low complexity region 21 58 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 121 139 N/A INTRINSIC
Pfam:Noc2 331 626 1.8e-128 PFAM
low complexity region 651 675 N/A INTRINSIC
low complexity region 701 723 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179886
SMART Domains Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
Pfam:Noc2 172 470 1.2e-117 PFAM
low complexity region 494 518 N/A INTRINSIC
low complexity region 544 566 N/A INTRINSIC
low complexity region 581 593 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179919
AA Change: G200D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
AA Change: G200D

DomainStartEndE-ValueType
low complexity region 277 295 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
low complexity region 401 410 N/A INTRINSIC
SAM 411 478 1.82e-6 SMART
low complexity region 486 503 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217934
AA Change: G190D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218788
AA Change: G190D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219393
Predicted Effect probably damaging
Transcript: ENSMUST00000220228
AA Change: G172D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,023,123 (GRCm39) D86E probably benign Het
Adamts5 A G 16: 85,663,506 (GRCm39) probably null Het
Arhgap31 T C 16: 38,423,283 (GRCm39) R928G possibly damaging Het
Birc6 T C 17: 74,853,388 (GRCm39) V164A possibly damaging Het
Cdh26 T A 2: 178,110,022 (GRCm39) H438Q probably damaging Het
Cfap65 T A 1: 74,956,328 (GRCm39) K1084* probably null Het
Csmd1 T C 8: 15,950,676 (GRCm39) H3511R probably damaging Het
Ebf1 T A 11: 44,534,274 (GRCm39) S178T possibly damaging Het
Efcab3 A C 11: 104,811,135 (GRCm39) K3192N unknown Het
Eln A G 5: 134,755,375 (GRCm39) V226A unknown Het
Fat4 A T 3: 39,063,128 (GRCm39) probably null Het
Gcn1 C T 5: 115,717,698 (GRCm39) T222I probably benign Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Gpc6 T A 14: 118,129,761 (GRCm39) V387E possibly damaging Het
Gyg1 C T 3: 20,179,619 (GRCm39) V255M probably damaging Het
Henmt1 T A 3: 108,864,965 (GRCm39) F146I probably damaging Het
Itpr3 T A 17: 27,330,900 (GRCm39) L1736Q probably damaging Het
Kcnh4 A G 11: 100,640,619 (GRCm39) V469A possibly damaging Het
Mybpc2 A G 7: 44,157,729 (GRCm39) L750P probably damaging Het
Naalad2 A G 9: 18,241,939 (GRCm39) V655A probably damaging Het
Nme8 C T 13: 19,858,689 (GRCm39) D289N probably benign Het
Or12k5 T G 2: 36,895,402 (GRCm39) T75P probably damaging Het
Or2t6 A G 14: 14,175,416 (GRCm38) V222A probably benign Het
Or4c104 T A 2: 88,587,024 (GRCm39) probably benign Het
Or4k15 C G 14: 50,364,827 (GRCm39) S264R probably benign Het
Or5aq6 T C 2: 86,923,502 (GRCm39) K80E probably benign Het
Or8g30 T A 9: 39,230,401 (GRCm39) K170* probably null Het
Phf24 T A 4: 42,937,906 (GRCm39) C173* probably null Het
Plcb2 A G 2: 118,549,304 (GRCm39) F353L probably damaging Het
Prss33 C A 17: 24,052,930 (GRCm39) W248L probably damaging Het
Rgs3 T G 4: 62,544,254 (GRCm39) L350R possibly damaging Het
Sh3tc2 T A 18: 62,123,873 (GRCm39) V878E probably damaging Het
Sh3tc2 G C 18: 62,148,142 (GRCm39) G1284A probably benign Het
Skint5 A G 4: 113,572,900 (GRCm39) S780P unknown Het
Slc8a3 T C 12: 81,361,452 (GRCm39) K456E probably damaging Het
Smok2a T A 17: 13,444,499 (GRCm39) H25Q probably benign Het
Srrt A G 5: 137,298,589 (GRCm39) L225P possibly damaging Het
Stox1 C T 10: 62,500,754 (GRCm39) R602Q probably damaging Het
Tmem30a A T 9: 79,683,507 (GRCm39) C157S probably damaging Het
Tnks1bp1 T C 2: 84,892,622 (GRCm39) S850P probably damaging Het
Trpm6 A G 19: 18,809,849 (GRCm39) I1082V probably benign Het
Ttll5 T A 12: 85,965,895 (GRCm39) N646K probably benign Het
Vmn1r179 A T 7: 23,628,277 (GRCm39) Y156F probably benign Het
Vmn1r54 T A 6: 90,246,413 (GRCm39) L109H probably damaging Het
Wdr17 T C 8: 55,115,953 (GRCm39) I617V probably benign Het
Zeb2 T A 2: 44,886,183 (GRCm39) Q958L probably damaging Het
Other mutations in Samd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1921:Samd11 UTSW 4 156,333,166 (GRCm39) missense probably damaging 1.00
R3710:Samd11 UTSW 4 156,334,952 (GRCm39) missense probably damaging 1.00
R4169:Samd11 UTSW 4 156,332,203 (GRCm39) missense probably damaging 1.00
R4249:Samd11 UTSW 4 156,334,943 (GRCm39) missense probably damaging 1.00
R4586:Samd11 UTSW 4 156,333,889 (GRCm39) missense probably damaging 1.00
R4735:Samd11 UTSW 4 156,333,230 (GRCm39) missense probably benign
R4794:Samd11 UTSW 4 156,333,922 (GRCm39) missense probably damaging 0.98
R6481:Samd11 UTSW 4 156,333,535 (GRCm39) splice site probably null
R6583:Samd11 UTSW 4 156,332,591 (GRCm39) missense possibly damaging 0.93
R7165:Samd11 UTSW 4 156,336,747 (GRCm39) missense probably benign
R7357:Samd11 UTSW 4 156,340,067 (GRCm39) splice site probably null
R7402:Samd11 UTSW 4 156,333,230 (GRCm39) missense probably benign
R7426:Samd11 UTSW 4 156,333,857 (GRCm39) missense probably benign
R7645:Samd11 UTSW 4 156,340,243 (GRCm39) start gained probably benign
R7761:Samd11 UTSW 4 156,332,282 (GRCm39) missense probably benign
R8716:Samd11 UTSW 4 156,333,727 (GRCm39) missense probably benign 0.31
R8814:Samd11 UTSW 4 156,332,341 (GRCm39) missense probably benign 0.19
R8822:Samd11 UTSW 4 156,336,764 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAACTCTGACATTTCCAGCCTGG -3'
(R):5'- CACAGGGAAATGTCACAGCC -3'

Sequencing Primer
(F):5'- TCCAGCCTGGACCAAAAGG -3'
(R):5'- TGCTGTCACCCCAGAATGC -3'
Posted On 2020-10-20