Incidental Mutation 'IGL02708:Sccpdh'
ID 304444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sccpdh
Ensembl Gene ENSMUSG00000038936
Gene Name saccharopine dehydrogenase (putative)
Synonyms C330023F11Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # IGL02708
Quality Score
Status
Chromosome 1
Chromosomal Location 179495796-179514754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179508074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 238 (C238Y)
Ref Sequence ENSEMBL: ENSMUSP00000040956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
AlphaFold Q8R127
Predicted Effect probably benign
Transcript: ENSMUST00000040538
AA Change: C238Y

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: C238Y

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
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144480
SMART Domains Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936

DomainStartEndE-ValueType
Pfam:Sacchrp_dh_C 56 160 8.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192611
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,738,213 (GRCm39) V1104D probably damaging Het
Adgrl2 A T 3: 148,532,161 (GRCm39) V1024E probably damaging Het
Agbl2 A G 2: 90,631,686 (GRCm39) H348R probably benign Het
Aifm2 T C 10: 61,574,354 (GRCm39) probably benign Het
Ankrd26 T C 6: 118,495,379 (GRCm39) probably benign Het
Avpr1b A G 1: 131,528,389 (GRCm39) D304G probably damaging Het
Duox1 A G 2: 122,156,498 (GRCm39) D475G possibly damaging Het
E2f8 T C 7: 48,516,982 (GRCm39) probably null Het
Fat2 T A 11: 55,173,211 (GRCm39) I2501F probably damaging Het
Gm4181 A G 14: 51,870,689 (GRCm39) C91R probably benign Het
Gm5424 T A 10: 61,907,390 (GRCm39) noncoding transcript Het
Gnai3 A G 3: 108,025,660 (GRCm39) F140L probably benign Het
Htra1 A T 7: 130,563,765 (GRCm39) D212V probably damaging Het
Irgm2 T C 11: 58,111,350 (GRCm39) V347A probably benign Het
Itch A G 2: 155,015,964 (GRCm39) T150A probably benign Het
Itgb3 A C 11: 104,528,655 (GRCm39) I261L possibly damaging Het
Kalrn C T 16: 34,212,420 (GRCm39) V31M probably damaging Het
Klra7 C T 6: 130,203,463 (GRCm39) C181Y probably damaging Het
Klrb1 A G 6: 128,690,548 (GRCm39) L58S probably benign Het
Kndc1 A G 7: 139,481,097 (GRCm39) E61G probably damaging Het
Krt78 T A 15: 101,861,842 (GRCm39) T135S possibly damaging Het
Mpdz A G 4: 81,202,808 (GRCm39) probably null Het
Mphosph6 A G 8: 118,519,525 (GRCm39) probably benign Het
Myo19 T C 11: 84,790,222 (GRCm39) S393P possibly damaging Het
Or51a5 A G 7: 102,771,027 (GRCm39) probably benign Het
Or8g53 T C 9: 39,683,214 (GRCm39) N294S probably damaging Het
Pkdrej T C 15: 85,704,988 (GRCm39) Y316C probably damaging Het
Pkp3 A T 7: 140,669,681 (GRCm39) probably benign Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Psmb8 A G 17: 34,420,217 (GRCm39) K270E probably benign Het
Ptprq T C 10: 107,488,561 (GRCm39) N959D probably damaging Het
Rab6b T G 9: 103,038,074 (GRCm39) probably null Het
Rhobtb3 T C 13: 76,065,843 (GRCm39) D180G probably damaging Het
Srm C T 4: 148,677,803 (GRCm39) S147L probably benign Het
Synj1 A T 16: 90,788,350 (GRCm39) S173T probably damaging Het
Tas1r1 T C 4: 152,112,797 (GRCm39) E752G possibly damaging Het
Tmem151a G T 19: 5,132,875 (GRCm39) Y110* probably null Het
Ttn A G 2: 76,556,957 (GRCm39) V30016A probably damaging Het
Txnrd2 A G 16: 18,287,590 (GRCm39) E331G probably benign Het
Vldlr T C 19: 27,215,485 (GRCm39) C161R possibly damaging Het
Vmn1r91 T A 7: 19,835,415 (GRCm39) S111R probably damaging Het
Vmn2r66 T A 7: 84,655,796 (GRCm39) I407F probably benign Het
Vps13d T C 4: 144,854,850 (GRCm39) M2258V probably benign Het
Ypel1 A T 16: 16,923,872 (GRCm39) V59D 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
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
R8551:Sccpdh UTSW 1 179,509,013 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16