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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156246966-156255657 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156249273 bp (GRCm38)
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: 120,423,900 D86E probably benign Het
Adamts5 A G 16: 85,866,618 probably null Het
Arhgap31 T C 16: 38,602,921 R928G possibly damaging Het
Birc6 T C 17: 74,546,393 V164A possibly damaging Het
Cdh26 T A 2: 178,468,229 H438Q probably damaging Het
Cfap65 T A 1: 74,917,169 K1084* probably null Het
Csmd1 T C 8: 15,900,676 H3511R probably damaging Het
Ebf1 T A 11: 44,643,447 S178T possibly damaging Het
Eln A G 5: 134,726,521 V226A unknown Het
Fat4 A T 3: 39,008,979 probably null Het
Gcn1l1 C T 5: 115,579,639 T222I probably benign Het
Gm11639 A C 11: 104,920,309 K3192N unknown Het
Gm5624 T G 14: 44,561,890 N70T Het
Gpc6 T A 14: 117,892,349 V387E possibly damaging Het
Gyg C T 3: 20,125,455 V255M probably damaging Het
Henmt1 T A 3: 108,957,649 F146I probably damaging Het
Itpr3 T A 17: 27,111,926 L1736Q probably damaging Het
Kcnh4 A G 11: 100,749,793 V469A possibly damaging Het
Mybpc2 A G 7: 44,508,305 L750P probably damaging Het
Naalad2 A G 9: 18,330,643 V655A probably damaging Het
Nme8 C T 13: 19,674,519 D289N probably benign Het
Olfr1109 T C 2: 87,093,158 K80E probably benign Het
Olfr1199 T A 2: 88,756,680 probably benign Het
Olfr358 T G 2: 37,005,390 T75P probably damaging Het
Olfr720 A G 14: 14,175,416 V222A probably benign Het
Olfr727 C G 14: 50,127,370 S264R probably benign Het
Olfr948 T A 9: 39,319,105 K170* probably null Het
Phf24 T A 4: 42,937,906 C173* probably null Het
Plcb2 A G 2: 118,718,823 F353L probably damaging Het
Prss33 C A 17: 23,833,956 W248L probably damaging Het
Rgs3 T G 4: 62,626,017 L350R possibly damaging Het
Sh3tc2 T A 18: 61,990,802 V878E probably damaging Het
Sh3tc2 G C 18: 62,015,071 G1284A probably benign Het
Skint5 A G 4: 113,715,703 S780P unknown Het
Slc8a3 T C 12: 81,314,678 K456E probably damaging Het
Smok2a T A 17: 13,225,612 H25Q probably benign Het
Srrt A G 5: 137,300,327 L225P possibly damaging Het
Stox1 C T 10: 62,664,975 R602Q probably damaging Het
Tmem30a A T 9: 79,776,225 C157S probably damaging Het
Tnks1bp1 T C 2: 85,062,278 S850P probably damaging Het
Trpm6 A G 19: 18,832,485 I1082V probably benign Het
Ttll5 T A 12: 85,919,121 N646K probably benign Het
Vmn1r179 A T 7: 23,928,852 Y156F probably benign Het
Vmn1r54 T A 6: 90,269,431 L109H probably damaging Het
Wdr17 T C 8: 54,662,918 I617V probably benign Het
Zeb2 T A 2: 44,996,171 Q958L probably damaging Het
Other mutations in Samd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1921:Samd11 UTSW 4 156248709 missense probably damaging 1.00
R3710:Samd11 UTSW 4 156250495 missense probably damaging 1.00
R4169:Samd11 UTSW 4 156247746 missense probably damaging 1.00
R4249:Samd11 UTSW 4 156250486 missense probably damaging 1.00
R4586:Samd11 UTSW 4 156249432 missense probably damaging 1.00
R4735:Samd11 UTSW 4 156248773 missense probably benign
R4794:Samd11 UTSW 4 156249465 missense probably damaging 0.98
R6481:Samd11 UTSW 4 156249078 splice site probably null
R6583:Samd11 UTSW 4 156248134 missense possibly damaging 0.93
R7165:Samd11 UTSW 4 156252290 missense probably benign
R7357:Samd11 UTSW 4 156255007 splice site probably null
R7402:Samd11 UTSW 4 156248773 missense probably benign
R7426:Samd11 UTSW 4 156249400 missense probably benign
R7645:Samd11 UTSW 4 156255183 start gained probably benign
R7761:Samd11 UTSW 4 156247825 missense probably benign
R8716:Samd11 UTSW 4 156249270 missense probably benign 0.31
R8814:Samd11 UTSW 4 156247884 missense probably benign 0.19
R8822:Samd11 UTSW 4 156252307 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