Incidental Mutation 'R8551:Sccpdh'
ID 659849
Institutional Source Beutler Lab
Gene Symbol Sccpdh
Ensembl Gene ENSMUSG00000038936
Gene Name saccharopine dehydrogenase (putative)
Synonyms C330023F11Rik
MMRRC Submission 068516-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R8551 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179495796-179514754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 179509013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 27 (Y27N)
Ref Sequence ENSEMBL: ENSMUSP00000115769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
AlphaFold Q8R127
Predicted Effect probably damaging
Transcript: ENSMUST00000040538
AA Change: Y277N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: Y277N

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 damaging
Transcript: ENSMUST00000143936
AA Change: Y27N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936
AA Change: Y27N

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: Y36N

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_C 56 160 8.7e-10 PFAM
Meta Mutation Damage Score 0.9421 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 G A 7: 82,189,678 (GRCm39) R634H probably benign Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Dnah12 T A 14: 26,496,227 (GRCm39) I1493K probably damaging Het
Dnah7b T C 1: 46,155,360 (GRCm39) S303P possibly damaging Het
Eri2 A T 7: 119,387,062 (GRCm39) probably null Het
Erlec1 C A 11: 30,881,829 (GRCm39) C467F probably damaging Het
Exph5 A G 9: 53,285,351 (GRCm39) T811A possibly damaging Het
Galr1 T A 18: 82,424,191 (GRCm39) I29F probably benign Het
Gata3 C A 2: 9,867,994 (GRCm39) C320F probably damaging Het
Ggnbp2 A T 11: 84,732,351 (GRCm39) Y247* probably null Het
Gnao1 A G 8: 94,682,735 (GRCm39) Q307R probably damaging Het
Hbp1 T C 12: 31,980,709 (GRCm39) T465A probably damaging Het
Liph C G 16: 21,800,158 (GRCm39) G152R probably damaging Het
Lrguk T C 6: 34,093,446 (GRCm39) S656P probably damaging Het
Lyrm4 T A 13: 36,163,844 (GRCm39) N85I probably benign Het
Lyst T A 13: 13,808,645 (GRCm39) I105N possibly damaging Het
Maml3 T C 3: 51,764,488 (GRCm39) T159A probably benign Het
Man1c1 A T 4: 134,430,326 (GRCm39) L152* probably null Het
Map3k20 T G 2: 72,232,704 (GRCm39) probably benign Het
Mthfsl G T 9: 88,570,943 (GRCm39) R102S possibly damaging Het
Myo3a T A 2: 22,337,277 (GRCm39) S391R probably benign Het
Naa50 A G 16: 43,979,996 (GRCm39) D128G probably benign Het
Nlrp14 C T 7: 106,782,359 (GRCm39) R519C possibly damaging Het
Or5b119 A G 19: 13,457,109 (GRCm39) I151T possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Oxtr T C 6: 112,465,939 (GRCm39) K274E probably damaging Het
Prkn A G 17: 11,286,103 (GRCm39) K32R probably damaging Het
Relt T C 7: 100,512,409 (GRCm39) probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ryr2 T A 13: 11,575,479 (GRCm39) I4840F possibly damaging Het
Slc7a5 A G 8: 122,613,050 (GRCm39) S343P probably damaging Het
Snrnp200 A G 2: 127,068,971 (GRCm39) D950G probably benign Het
Stk38 A G 17: 29,207,199 (GRCm39) Y115H probably damaging Het
Tas2r116 T C 6: 132,832,993 (GRCm39) V198A probably benign Het
Tfap2d A G 1: 19,175,024 (GRCm39) D159G probably benign Het
Trim69 A G 2: 122,003,810 (GRCm39) D253G probably benign Het
Trpv4 A T 5: 114,768,900 (GRCm39) F359I possibly damaging Het
Twist1 C T 12: 34,008,103 (GRCm39) R43W unknown Het
Usp19 A T 9: 108,376,496 (GRCm39) E1026V possibly damaging Het
Virma A G 4: 11,513,397 (GRCm39) Y417C probably damaging Het
Zfp735 A G 11: 73,603,122 (GRCm39) I689V probably benign Het
Other mutations in Sccpdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Sccpdh APN 1 179,505,634 (GRCm39) missense possibly damaging 0.90
IGL02225:Sccpdh APN 1 179,507,264 (GRCm39) missense probably benign
IGL02428:Sccpdh APN 1 179,508,070 (GRCm39) missense probably benign 0.01
IGL02516:Sccpdh APN 1 179,509,256 (GRCm39) missense probably damaging 1.00
IGL02622:Sccpdh APN 1 179,504,025 (GRCm39) missense probably damaging 1.00
IGL02708:Sccpdh APN 1 179,508,074 (GRCm39) missense probably benign 0.32
IGL03209:Sccpdh APN 1 179,514,238 (GRCm39) missense possibly damaging 0.89
R0508:Sccpdh UTSW 1 179,508,080 (GRCm39) splice site probably null
R1160:Sccpdh UTSW 1 179,511,775 (GRCm39) missense probably benign 0.01
R1462:Sccpdh UTSW 1 179,509,125 (GRCm39) splice site probably benign
R1965:Sccpdh UTSW 1 179,511,879 (GRCm39) missense probably damaging 1.00
R2104:Sccpdh UTSW 1 179,498,162 (GRCm39) missense probably benign
R2200:Sccpdh UTSW 1 179,498,171 (GRCm39) missense possibly damaging 0.95
R4693:Sccpdh UTSW 1 179,495,975 (GRCm39) missense possibly damaging 0.95
R5954:Sccpdh UTSW 1 179,508,153 (GRCm39) missense probably benign 0.08
R6248:Sccpdh UTSW 1 179,495,957 (GRCm39) missense probably benign 0.00
R6355:Sccpdh UTSW 1 179,498,165 (GRCm39) missense probably benign 0.01
R6447:Sccpdh UTSW 1 179,506,453 (GRCm39) makesense probably null
R6692:Sccpdh UTSW 1 179,511,792 (GRCm39) missense possibly damaging 0.94
R8117:Sccpdh UTSW 1 179,504,017 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCTAGGCTCCCAGTGTTG -3'
(R):5'- GATACTAGAGGTCCTGGTGTAAAC -3'

Sequencing Primer
(F):5'- CCTAGGCTCCCAGTGTTGAGTTG -3'
(R):5'- ACAATACCTGTTTTTGTGTTGGACC -3'
Posted On 2021-01-18