Incidental Mutation 'IGL02437:Samd8'
ID293319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd8
Ensembl Gene ENSMUSG00000021770
Gene Namesterile alpha motif domain containing 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL02437
Quality Score
Status
Chromosome14
Chromosomal Location21750531-21798726 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21775423 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 212 (Y212C)
Ref Sequence ENSEMBL: ENSMUSP00000022292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022292] [ENSMUST00000119430] [ENSMUST00000144061]
Predicted Effect probably benign
Transcript: ENSMUST00000022292
AA Change: Y212C

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: Y212C

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: Y149C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: Y149C

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Samd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Samd8 APN 14 21780100 missense probably damaging 1.00
IGL01837:Samd8 APN 14 21774959 splice site probably benign
IGL02188:Samd8 APN 14 21783798 critical splice donor site probably null
IGL02338:Samd8 APN 14 21775476 missense possibly damaging 0.95
IGL02643:Samd8 APN 14 21793144 missense probably damaging 1.00
skellington UTSW 14 21783798 critical splice donor site probably null
stern UTSW 14 21775153 missense possibly damaging 0.79
wellington UTSW 14 21775137 missense probably damaging 1.00
R0993:Samd8 UTSW 14 21775495 missense probably damaging 1.00
R1529:Samd8 UTSW 14 21775159 missense possibly damaging 0.53
R2200:Samd8 UTSW 14 21775320 missense probably benign 0.00
R3801:Samd8 UTSW 14 21775065 missense probably damaging 0.99
R3803:Samd8 UTSW 14 21775065 missense probably damaging 0.99
R3981:Samd8 UTSW 14 21780180 missense probably null 1.00
R4094:Samd8 UTSW 14 21793045 missense probably damaging 1.00
R4232:Samd8 UTSW 14 21780145 missense probably benign
R4847:Samd8 UTSW 14 21792435 missense possibly damaging 0.65
R5402:Samd8 UTSW 14 21775168 missense probably damaging 1.00
R5421:Samd8 UTSW 14 21792495 missense probably damaging 1.00
R5955:Samd8 UTSW 14 21793084 missense probably damaging 1.00
R6180:Samd8 UTSW 14 21775025 missense probably benign 0.04
R6447:Samd8 UTSW 14 21792556 critical splice donor site probably null
R6451:Samd8 UTSW 14 21783798 critical splice donor site probably null
R6844:Samd8 UTSW 14 21775137 missense probably damaging 1.00
R6914:Samd8 UTSW 14 21775153 missense possibly damaging 0.79
R6942:Samd8 UTSW 14 21775153 missense possibly damaging 0.79
R7101:Samd8 UTSW 14 21775374 missense probably benign 0.00
R7485:Samd8 UTSW 14 21792423 missense probably benign 0.00
Posted On2015-04-16