Incidental Mutation 'IGL02516:Sccpdh'
ID296743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sccpdh
Ensembl Gene ENSMUSG00000038936
Gene Namesaccharopine dehydrogenase (putative)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.381) question?
Stock #IGL02516
Quality Score
Status
Chromosome1
Chromosomal Location179668210-179687189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 179681691 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 75 (G75D)
Ref Sequence ENSEMBL: ENSMUSP00000115769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
Predicted Effect probably damaging
Transcript: ENSMUST00000040538
AA Change: G325D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: G325D

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 damaging
Transcript: ENSMUST00000143936
AA Change: G75D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936
AA Change: G75D

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null 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
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
R1160:Sccpdh UTSW 1 179684210 missense probably benign 0.01
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
R8117:Sccpdh UTSW 1 179676452 missense probably damaging 1.00
Posted On2015-04-16