Incidental Mutation 'R5421:Samd8'
ID 426589
Institutional Source Beutler Lab
Gene Symbol Samd8
Ensembl Gene ENSMUSG00000021770
Gene Name sterile alpha motif domain containing 8
Synonyms 1700010P07Rik, 1110053F04Rik, Smsr
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # R5421 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 21800599-21848794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21842563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 295 (D295G)
Ref Sequence ENSEMBL: ENSMUSP00000112803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022292] [ENSMUST00000119430] [ENSMUST00000144061]
AlphaFold Q9DA37
Predicted Effect probably damaging
Transcript: ENSMUST00000022292
AA Change: D358G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: D358G

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
SAM 72 141 1.86e-3 SMART
transmembrane domain 215 237 N/A INTRINSIC
transmembrane domain 262 284 N/A INTRINSIC
transmembrane domain 297 319 N/A INTRINSIC
Pfam:PAP2_C 355 428 3e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119430
AA Change: D295G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: D295G

DomainStartEndE-ValueType
SAM 9 78 1.86e-3 SMART
transmembrane domain 152 174 N/A INTRINSIC
transmembrane domain 199 221 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
Pfam:PAP2_C 292 365 6.1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142023
Predicted Effect probably benign
Transcript: ENSMUST00000144061
SMART Domains Protein: ENSMUSP00000117603
Gene: ENSMUSG00000021770

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ceramide phosphoethanolamine synthase activity but normal liver, kidney and spleen histology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A T 15: 74,421,876 (GRCm39) Q882L probably damaging Het
Afdn T C 17: 14,052,668 (GRCm39) V525A probably benign Het
AI987944 T C 7: 41,024,200 (GRCm39) T263A probably benign Het
Aldh1l2 T C 10: 83,363,271 (GRCm39) S31G probably damaging Het
Asxl1 T C 2: 153,241,504 (GRCm39) S685P probably benign Het
Blnk C A 19: 40,956,967 (GRCm39) V47F probably damaging Het
Bmp4 T A 14: 46,623,355 (GRCm39) M64L probably damaging Het
Bmpr2 T A 1: 59,909,577 (GRCm39) V1017E possibly damaging Het
C1ra C T 6: 124,499,749 (GRCm39) P645L probably benign Het
Cadm2 A T 16: 66,568,513 (GRCm39) C248* probably null Het
Cdk6 T C 5: 3,523,120 (GRCm39) V180A probably damaging Het
Colec12 A T 18: 9,858,580 (GRCm39) R454S probably damaging Het
Dennd3 T C 15: 73,438,964 (GRCm39) S1111P probably benign Het
Dmxl1 T C 18: 49,996,186 (GRCm39) probably null Het
Dnah2 G A 11: 69,326,462 (GRCm39) T3613I probably damaging Het
Elp6 A G 9: 110,143,132 (GRCm39) Q115R probably benign Het
Enpp1 A G 10: 24,545,655 (GRCm39) Y262H probably damaging Het
Far2 A G 6: 148,047,690 (GRCm39) probably null Het
Flnb C T 14: 7,926,494 (GRCm38) T1846I probably damaging Het
Folr2 C T 7: 101,489,851 (GRCm39) R139H probably benign Het
Fxn A T 19: 24,254,649 (GRCm39) probably null Het
Galnt13 A C 2: 54,747,908 (GRCm39) N263T probably damaging Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Htr5a G T 5: 28,055,985 (GRCm39) W325C possibly damaging Het
Itga4 T A 2: 79,146,385 (GRCm39) Y772* probably null Het
Kif12 T C 4: 63,089,665 (GRCm39) S59G probably benign Het
Kifc3 C T 8: 95,836,473 (GRCm39) R96Q probably damaging Het
Klrd1 T C 6: 129,575,406 (GRCm39) Y191H probably damaging Het
Ndst3 A T 3: 123,428,008 (GRCm39) probably null Het
Nek1 A C 8: 61,459,711 (GRCm39) R6S possibly damaging Het
Or4b13 G A 2: 90,083,089 (GRCm39) T81I probably benign Het
Or5p68 G C 7: 107,946,182 (GRCm39) A2G probably benign Het
Or6k8-ps1 C T 1: 173,979,861 (GRCm39) R260* probably null Het
Palld C T 8: 61,969,584 (GRCm39) E1005K probably damaging Het
Ppp2r1a T A 17: 21,176,968 (GRCm39) Y169N probably benign Het
Rad50 T C 11: 53,565,773 (GRCm39) D960G probably benign Het
Rad51ap2 A T 12: 11,509,368 (GRCm39) K915* probably null Het
Rasal2 T C 1: 157,126,711 (GRCm39) K109R probably benign Het
Rc3h1 G A 1: 160,779,400 (GRCm39) probably null Het
Rnf6 C T 5: 146,147,339 (GRCm39) V560I probably benign Het
Scart1 T C 7: 139,803,813 (GRCm39) L337P probably damaging Het
Serpinb2 T C 1: 107,451,581 (GRCm39) Y245H probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc28a3 A T 13: 58,722,079 (GRCm39) F268L possibly damaging Het
Slc7a14 T C 3: 31,278,346 (GRCm39) T420A probably damaging Het
Speer4f2 A T 5: 17,579,356 (GRCm39) T52S possibly damaging Het
Spta1 A G 1: 174,043,095 (GRCm39) N1414D probably damaging Het
Sptbn5 A G 2: 119,911,261 (GRCm39) noncoding transcript Het
Syt9 T C 7: 107,024,563 (GRCm39) V152A probably benign Het
Thoc2l A T 5: 104,666,261 (GRCm39) N261I probably benign Het
Tln1 G A 4: 43,533,609 (GRCm39) A2315V possibly damaging Het
Tox C A 4: 6,842,409 (GRCm39) M40I possibly damaging Het
Ucp1 G A 8: 84,017,320 (GRCm39) A37T probably benign Het
Vapa A G 17: 65,902,031 (GRCm39) V33A possibly damaging Het
Vmn2r110 A G 17: 20,803,882 (GRCm39) L231S probably damaging Het
Vmn2r15 C T 5: 109,434,401 (GRCm39) A768T probably damaging Het
Vmn2r86 T C 10: 130,282,805 (GRCm39) T604A probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Wwc1 C T 11: 35,801,123 (GRCm39) E105K possibly damaging Het
Wwc1 T G 11: 35,766,890 (GRCm39) D455A possibly damaging Het
Zfp426 G A 9: 20,382,015 (GRCm39) A309V probably damaging Het
Zfp626 T A 7: 27,517,335 (GRCm39) N105K probably damaging Het
Other mutations in Samd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Samd8 APN 14 21,830,168 (GRCm39) missense probably damaging 1.00
IGL01837:Samd8 APN 14 21,825,027 (GRCm39) splice site probably benign
IGL02188:Samd8 APN 14 21,833,866 (GRCm39) critical splice donor site probably null
IGL02338:Samd8 APN 14 21,825,544 (GRCm39) missense possibly damaging 0.95
IGL02437:Samd8 APN 14 21,825,491 (GRCm39) missense probably benign 0.11
IGL02643:Samd8 APN 14 21,843,212 (GRCm39) missense probably damaging 1.00
skellington UTSW 14 21,833,866 (GRCm39) critical splice donor site probably null
smithie UTSW 14 21,842,569 (GRCm39) missense probably damaging 1.00
Stern UTSW 14 21,825,221 (GRCm39) missense possibly damaging 0.79
wellington UTSW 14 21,825,205 (GRCm39) missense probably damaging 1.00
R0993:Samd8 UTSW 14 21,825,563 (GRCm39) missense probably damaging 1.00
R1529:Samd8 UTSW 14 21,825,227 (GRCm39) missense possibly damaging 0.53
R2200:Samd8 UTSW 14 21,825,388 (GRCm39) missense probably benign 0.00
R3801:Samd8 UTSW 14 21,825,133 (GRCm39) missense probably damaging 0.99
R3803:Samd8 UTSW 14 21,825,133 (GRCm39) missense probably damaging 0.99
R3981:Samd8 UTSW 14 21,830,248 (GRCm39) missense probably null 1.00
R4094:Samd8 UTSW 14 21,843,113 (GRCm39) missense probably damaging 1.00
R4232:Samd8 UTSW 14 21,830,213 (GRCm39) missense probably benign
R4847:Samd8 UTSW 14 21,842,503 (GRCm39) missense possibly damaging 0.65
R5402:Samd8 UTSW 14 21,825,236 (GRCm39) missense probably damaging 1.00
R5955:Samd8 UTSW 14 21,843,152 (GRCm39) missense probably damaging 1.00
R6180:Samd8 UTSW 14 21,825,093 (GRCm39) missense probably benign 0.04
R6447:Samd8 UTSW 14 21,842,624 (GRCm39) critical splice donor site probably null
R6451:Samd8 UTSW 14 21,833,866 (GRCm39) critical splice donor site probably null
R6844:Samd8 UTSW 14 21,825,205 (GRCm39) missense probably damaging 1.00
R6914:Samd8 UTSW 14 21,825,221 (GRCm39) missense possibly damaging 0.79
R6942:Samd8 UTSW 14 21,825,221 (GRCm39) missense possibly damaging 0.79
R7101:Samd8 UTSW 14 21,825,442 (GRCm39) missense probably benign 0.00
R7485:Samd8 UTSW 14 21,842,491 (GRCm39) missense probably benign 0.00
R8256:Samd8 UTSW 14 21,833,745 (GRCm39) critical splice acceptor site probably null
R8280:Samd8 UTSW 14 21,830,219 (GRCm39) nonsense probably null
R9090:Samd8 UTSW 14 21,842,569 (GRCm39) missense probably damaging 1.00
R9271:Samd8 UTSW 14 21,842,569 (GRCm39) missense probably damaging 1.00
R9345:Samd8 UTSW 14 21,830,227 (GRCm39) missense probably benign 0.40
R9446:Samd8 UTSW 14 21,833,769 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AATTGCCTGAAATGGATTTGGG -3'
(R):5'- CAGGGTAGGCTCTAAGCTTCTG -3'

Sequencing Primer
(F):5'- CCTGAAATGGATTTGGGCAAGCTC -3'
(R):5'- TGAACTAGGATCTACAGGCATCTGC -3'
Posted On 2016-09-01