Incidental Mutation 'R1160:Sccpdh'
ID100279
Institutional Source Beutler Lab
Gene Symbol Sccpdh
Ensembl Gene ENSMUSG00000038936
Gene Namesaccharopine dehydrogenase (putative)
Synonyms
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.417) question?
Stock #R1160 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location179668210-179687189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 179684210 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 82 (D82E)
Ref Sequence ENSEMBL: ENSMUSP00000115769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
Predicted Effect probably benign
Transcript: ENSMUST00000040538
AA Change: D332E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: D332E

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_NADP 10 149 2.4e-28 PFAM
transmembrane domain 277 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134287
SMART Domains Protein: ENSMUSP00000136880
Gene: ENSMUSG00000038936

DomainStartEndE-ValueType
Pfam:Saccharop_dh 10 130 9.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143936
AA Change: D82E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936
AA Change: D82E

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144480
AA Change: D72E
SMART Domains Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: D72E

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_C 56 160 8.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192611
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Sccpdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Sccpdh APN 1 179678069 missense possibly damaging 0.90
IGL02225:Sccpdh APN 1 179679699 missense probably benign
IGL02428:Sccpdh APN 1 179680505 missense probably benign 0.01
IGL02516:Sccpdh APN 1 179681691 missense probably damaging 1.00
IGL02622:Sccpdh APN 1 179676460 missense probably damaging 1.00
IGL02708:Sccpdh APN 1 179680509 missense probably benign 0.32
IGL03209:Sccpdh APN 1 179686673 missense possibly damaging 0.89
R0508:Sccpdh UTSW 1 179680515 unclassified probably null
R1462:Sccpdh UTSW 1 179681560 splice site probably benign
R1965:Sccpdh UTSW 1 179684314 missense probably damaging 1.00
R2104:Sccpdh UTSW 1 179670597 missense probably benign
R2200:Sccpdh UTSW 1 179670606 missense possibly damaging 0.95
R4693:Sccpdh UTSW 1 179668410 missense possibly damaging 0.95
R5954:Sccpdh UTSW 1 179680588 missense probably benign 0.08
R6248:Sccpdh UTSW 1 179668392 missense probably benign 0.00
R6355:Sccpdh UTSW 1 179670600 missense probably benign 0.01
R6447:Sccpdh UTSW 1 179678888 makesense probably null
R6692:Sccpdh UTSW 1 179684227 missense possibly damaging 0.94
Predicted Primers
Posted On2014-01-15