Incidental Mutation 'IGL02643:Samd8'
ID 301820
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02643
Quality Score
Status
Chromosome 14
Chromosomal Location 21800599-21848794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21843212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 447 (M447K)
Ref Sequence ENSEMBL: ENSMUSP00000022292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022292] [ENSMUST00000119430] [ENSMUST00000144061]
AlphaFold Q9DA37
Predicted Effect probably damaging
Transcript: ENSMUST00000022292
AA Change: M447K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: M447K

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: M384K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: M384K

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,769,633 (GRCm39) M608L probably benign Het
Adamts2 A T 11: 50,679,527 (GRCm39) M836L probably benign Het
Ankrd11 A T 8: 123,619,061 (GRCm39) M1597K probably damaging Het
Arhgef17 A T 7: 100,533,089 (GRCm39) F1145L possibly damaging Het
Atp13a3 A T 16: 30,152,614 (GRCm39) W32R probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bod1l T A 5: 41,976,148 (GRCm39) E1722V possibly damaging Het
Ceacam16 A G 7: 19,595,086 (GRCm39) probably benign Het
Col14a1 T A 15: 55,284,258 (GRCm39) Y840N unknown Het
Dlg5 A G 14: 24,241,250 (GRCm39) C132R probably damaging Het
Dock4 T A 12: 40,718,429 (GRCm39) N242K probably damaging Het
Dsg3 G A 18: 20,662,012 (GRCm39) V426I probably benign Het
Dync1h1 T C 12: 110,625,706 (GRCm39) probably benign Het
Flvcr2 T A 12: 85,842,997 (GRCm39) M357K possibly damaging Het
Gapvd1 A G 2: 34,594,192 (GRCm39) S932P probably damaging Het
Gata4 T A 14: 63,442,204 (GRCm39) D205V possibly damaging Het
Kcnk2 T A 1: 188,990,976 (GRCm39) I195L possibly damaging Het
Krt1 T C 15: 101,755,479 (GRCm39) I427V probably benign Het
Mapk1ip1l T A 14: 47,548,339 (GRCm39) H162Q possibly damaging Het
Micu1 A G 10: 59,675,558 (GRCm39) D380G probably damaging Het
Mknk2 A C 10: 80,504,435 (GRCm39) L289R probably damaging Het
Mtcl2 A G 2: 156,882,663 (GRCm39) V463A probably damaging Het
Myo18a A T 11: 77,668,998 (GRCm39) N286I possibly damaging Het
Or5ae2 A T 7: 84,506,239 (GRCm39) I221F probably damaging Het
Pdp1 C T 4: 11,962,062 (GRCm39) R83H probably benign Het
Ptafr A C 4: 132,307,437 (GRCm39) I276L probably benign Het
Rab3gap2 A T 1: 184,999,197 (GRCm39) D968V possibly damaging Het
Rplp1rt T C 19: 12,824,300 (GRCm39) noncoding transcript Het
Six5 G T 7: 18,831,455 (GRCm39) V649L probably benign Het
Slc1a2 T A 2: 102,570,225 (GRCm39) F168I probably benign Het
Slc1a7 G A 4: 107,869,497 (GRCm39) V521M possibly damaging Het
Sorbs1 T C 19: 40,353,577 (GRCm39) D206G possibly damaging Het
Stim2 T C 5: 54,267,955 (GRCm39) V417A probably damaging Het
Tbx20 A G 9: 24,685,009 (GRCm39) probably benign Het
Tia1 A G 6: 86,393,372 (GRCm39) I71V probably benign Het
Ttc7 T C 17: 87,648,327 (GRCm39) S509P possibly damaging Het
Ttpal A G 2: 163,449,140 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,576,067 (GRCm39) N865K probably damaging Het
Wdr45 G T X: 7,593,288 (GRCm39) E62* probably null Het
Zfp507 A G 7: 35,494,656 (GRCm39) F129S probably damaging Het
Zfp518b T A 5: 38,831,498 (GRCm39) H169L 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
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
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
Posted On 2015-04-16