Incidental Mutation 'IGL02026:Sccpdh'
ID184148
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: 0.467) question?
Stock #IGL02026
Quality Score
Status
Chromosome1
Chromosomal Location179668210-179687189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 179678069 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 138 (H138L)
Ref Sequence ENSEMBL: ENSMUSP00000040956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040538
AA Change: H138L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: H138L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Sccpdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2014-05-07