Incidental Mutation 'IGL03209:Sccpdh'
ID413231
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 essential (E-score: 0.545) question?
Stock #IGL03209
Quality Score
Status
Chromosome1
Chromosomal Location179668210-179687189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 179686673 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 429 (V429A)
Ref Sequence ENSEMBL: ENSMUSP00000040956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040538
AA Change: V429A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: V429A

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 benign
Transcript: ENSMUST00000143936
SMART Domains Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144480
AA Change: V169A
SMART Domains Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: V169A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,992,961 A841V probably benign Het
Alms1 A G 6: 85,599,973 probably benign Het
Arc A T 15: 74,671,984 L130Q probably damaging Het
Arhgap28 C T 17: 67,868,956 V383I probably damaging Het
Atf6 T C 1: 170,834,894 S266G probably benign Het
Cd59b A G 2: 104,084,560 E101G probably benign Het
Cdc26 T C 4: 62,395,014 K30R possibly damaging Het
Clns1a A G 7: 97,711,730 D103G probably null Het
Crispld2 C A 8: 120,031,098 A394E possibly damaging Het
Cyp51 A T 5: 4,104,195 L38H probably damaging Het
Dnah7a T G 1: 53,686,614 probably benign Het
Fbxw2 T C 2: 34,822,663 R129G probably damaging Het
Fgd3 T C 13: 49,285,818 Q234R probably damaging Het
Gdpgp1 A G 7: 80,239,099 T293A probably damaging Het
Gm4951 T A 18: 60,246,071 I226N probably damaging Het
Hspa12a T G 19: 58,822,061 probably null Het
Ier5l G T 2: 30,473,055 D319E possibly damaging Het
Ikzf1 T C 11: 11,700,226 V3A probably benign Het
Itga2 T C 13: 114,880,632 N180D probably damaging Het
Lipt1 T C 1: 37,875,069 S69P probably damaging Het
Lvrn A G 18: 46,889,498 I734V probably benign Het
Man2c1 A G 9: 57,141,830 T871A probably benign Het
Ndufs1 A T 1: 63,164,737 C129S probably damaging Het
Neb A T 2: 52,290,819 F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 Y362* probably null Het
Olfr92 A T 17: 37,111,521 S154T probably benign Het
Olfr993 A T 2: 85,414,379 S167T probably benign Het
Patj A G 4: 98,465,140 D640G probably null Het
Plxnd1 A T 6: 115,962,357 M1502K probably damaging Het
Slc25a48 T C 13: 56,470,459 V303A probably benign Het
Sult2a6 T C 7: 14,225,972 D212G probably benign Het
Tep1 A T 14: 50,840,703 probably benign Het
Tmem65 A G 15: 58,784,902 probably benign Het
Togaram2 T C 17: 71,695,745 probably null Het
Trim36 T C 18: 46,167,508 T687A probably benign Het
Unc13b T A 4: 43,239,351 D3471E probably damaging Het
Urgcp T C 11: 5,717,238 probably null Het
Zfhx4 A T 3: 5,401,171 I2155F probably damaging Het
Zfp831 T A 2: 174,645,266 V578E probably benign 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
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
R0508:Sccpdh UTSW 1 179680515 splice site 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 On2016-08-02