Incidental Mutation 'R5954:Sccpdh'
ID 471028
Institutional Source Beutler Lab
Gene Symbol Sccpdh
Ensembl Gene ENSMUSG00000038936
Gene Name saccharopine dehydrogenase (putative)
Synonyms C330023F11Rik
MMRRC Submission 044143-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R5954 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 179495796-179514754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 179508153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 14 (H14Q)
Ref Sequence ENSEMBL: ENSMUSP00000115769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
AlphaFold Q8R127
Predicted Effect probably benign
Transcript: ENSMUST00000040538
AA Change: H264Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: H264Q

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_NADP 10 149 2.4e-28 PFAM
transmembrane domain 277 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131039
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: H14Q

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936
AA Change: H14Q

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144480
AA Change: H23Q
SMART Domains Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: H23Q

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_C 56 160 8.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192611
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,390 (GRCm39) I944T probably benign Het
Ank2 T C 3: 126,791,510 (GRCm39) T823A probably benign Het
Ankrd42 C G 7: 92,273,175 (GRCm39) probably null Het
Anks4b T A 7: 119,781,396 (GRCm39) N142K possibly damaging Het
Armc5 A G 7: 127,841,444 (GRCm39) E484G probably benign Het
B4galnt3 A G 6: 120,202,149 (GRCm39) F118L possibly damaging Het
Bbs12 C T 3: 37,374,151 (GRCm39) L200F possibly damaging Het
Cacna1h A G 17: 25,602,175 (GRCm39) F1555S probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Chd6 A C 2: 160,807,747 (GRCm39) H1822Q probably benign Het
Chdh C T 14: 29,753,138 (GRCm39) R16C possibly damaging Het
Cnga1 T C 5: 72,762,221 (GRCm39) D431G probably damaging Het
Dock8 G A 19: 25,148,983 (GRCm39) R1487Q probably damaging Het
Farp1 T A 14: 121,460,079 (GRCm39) V116D probably damaging Het
Fbxo24 T A 5: 137,617,943 (GRCm39) T274S probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gatad2b T C 3: 90,258,748 (GRCm39) L257P probably damaging Het
Gm20402 C T 3: 52,176,311 (GRCm39) P30L probably damaging Het
Gm7932 C T 6: 48,839,793 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,767 (GRCm39) D590E unknown Het
Herc1 T G 9: 66,358,774 (GRCm39) probably benign Het
Hsd3b2 T A 3: 98,618,875 (GRCm39) I357F probably benign Het
Ipo5 A G 14: 121,157,396 (GRCm39) Y78C probably damaging Het
Itga8 C A 2: 12,137,297 (GRCm39) A23S probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat2a A G 11: 100,599,724 (GRCm39) V451A possibly damaging Het
Knstrn A G 2: 118,661,436 (GRCm39) probably benign Het
Med23 A G 10: 24,746,381 (GRCm39) probably benign Het
Mefv A G 16: 3,533,579 (GRCm39) Y231H probably benign Het
Or4d10 A T 19: 12,051,447 (GRCm39) I183N possibly damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Or5p69 T A 7: 107,966,808 (GRCm39) I37N probably damaging Het
Or8g21 A G 9: 38,906,711 (GRCm39) S7P probably damaging Het
Pak5 G T 2: 135,958,383 (GRCm39) T235K probably benign Het
Plppr3 G T 10: 79,701,960 (GRCm39) P294Q probably benign Het
Prepl A G 17: 85,372,077 (GRCm39) F725L probably benign Het
Ptchd3 A T 11: 121,727,413 (GRCm39) probably benign Het
Rprd2 T C 3: 95,672,175 (GRCm39) E1076G probably damaging Het
Sarm1 C A 11: 78,381,428 (GRCm39) E352* probably null Het
Senp7 A G 16: 55,990,234 (GRCm39) I661V probably benign Het
Septin3 T C 15: 82,174,628 (GRCm39) F140L probably damaging Het
Spag6 G T 2: 18,715,417 (GRCm39) Q65H probably damaging Het
Tnni3 C T 7: 4,522,539 (GRCm39) R137H probably damaging Het
Trank1 A G 9: 111,194,201 (GRCm39) S742G probably benign Het
Ucn3 T C 13: 3,991,413 (GRCm39) I80V probably benign Het
Ulk2 A T 11: 61,694,622 (GRCm39) probably benign Het
Uncx C T 5: 139,533,384 (GRCm39) S483L probably benign Het
Vps39 A G 2: 120,155,143 (GRCm39) V550A probably damaging Het
Zfp697 C A 3: 98,335,909 (GRCm39) T558K probably damaging Het
Zfp790 G T 7: 29,528,929 (GRCm39) G538V probably damaging 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
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
R8551:Sccpdh UTSW 1 179,509,013 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGACGTTTACCAGTCGATG -3'
(R):5'- AGAGCTCCAGCAGAGATGTC -3'

Sequencing Primer
(F):5'- ACGTTTACCAGTCGATGTTGTGATC -3'
(R):5'- TGATCTTGCTGCAGGCCAG -3'
Posted On 2017-03-31