Incidental Mutation 'R4232:Samd8'
ID 320925
Institutional Source Beutler Lab
Gene Symbol Samd8
Ensembl Gene ENSMUSG00000021770
Gene Name sterile alpha motif domain containing 8
Synonyms 1700010P07Rik, 1110053F04Rik, Smsr
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # R4232 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21800599-21848794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21830213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 213 (Y213C)
Ref Sequence ENSEMBL: ENSMUSP00000112803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022292] [ENSMUST00000119430] [ENSMUST00000144061]
AlphaFold Q9DA37
Predicted Effect probably benign
Transcript: ENSMUST00000022292
AA Change: Y276C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: Y276C

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 benign
Transcript: ENSMUST00000119430
AA Change: Y213C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: Y213C

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 probably benign
Transcript: ENSMUST00000144061
SMART Domains Protein: ENSMUSP00000117603
Gene: ENSMUSG00000021770

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Meta Mutation Damage Score 0.0705 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly 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
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
R5421:Samd8 UTSW 14 21,842,563 (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'- AGAAGTGACGTTCTACAGAGC -3'
(R):5'- ACTAAGGCCGATATCCTTTTGC -3'

Sequencing Primer
(F):5'- AGTGACGTTCTACAGAGCAGTTC -3'
(R):5'- TCTTCCAGGGAAATGCAG -3'
Posted On 2015-06-12