Incidental Mutation 'IGL02582:Smcr8'
ID 299371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smcr8
Ensembl Gene ENSMUSG00000049323
Gene Name Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
Synonyms 2310076G09Rik, D030073L15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02582
Quality Score
Status
Chromosome 11
Chromosomal Location 60668351-60679113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60669721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 290 (S290P)
Ref Sequence ENSEMBL: ENSMUSP00000099728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000056907] [ENSMUST00000102667] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417] [ENSMUST00000130068]
AlphaFold Q3UMB5
Predicted Effect probably benign
Transcript: ENSMUST00000002891
SMART Domains Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814

DomainStartEndE-ValueType
TOPRIM 35 169 5.04e-24 SMART
TOP1Bc 172 269 4.99e-37 SMART
TOP1Ac 315 569 1.47e-107 SMART
Pfam:zf-C4_Topoisom 655 694 1.7e-15 PFAM
Pfam:zf-GRF 813 854 9.7e-23 PFAM
low complexity region 884 896 N/A INTRINSIC
Pfam:zf-GRF 897 941 7.9e-24 PFAM
ZnF_C2HC 985 1001 7.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056907
AA Change: S290P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: S290P

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 78 262 5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102667
AA Change: S290P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: S290P

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 87 255 8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102668
SMART Domains Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814

DomainStartEndE-ValueType
TOPRIM 35 169 5.04e-24 SMART
TOP1Bc 172 269 4.99e-37 SMART
TOP1Ac 315 569 1.47e-107 SMART
Pfam:zf-C4_Topoisom 655 694 5.9e-16 PFAM
Pfam:zf-GRF 813 854 2.6e-21 PFAM
low complexity region 884 896 N/A INTRINSIC
Pfam:zf-GRF 897 941 4.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117743
SMART Domains Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814

DomainStartEndE-ValueType
TOPRIM 10 144 5.04e-24 SMART
TOP1Bc 147 244 4.99e-37 SMART
TOP1Ac 290 544 1.47e-107 SMART
Pfam:zf-C4_Topoisom 630 669 4.6e-16 PFAM
ZnF_C2HC 755 771 7.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120417
SMART Domains Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814

DomainStartEndE-ValueType
TOPRIM 10 144 5.04e-24 SMART
TOP1Bc 147 244 4.99e-37 SMART
TOP1Ac 290 544 1.47e-107 SMART
Pfam:zf-C4_Topoisom 630 666 1.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130068
SMART Domains Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814

DomainStartEndE-ValueType
PDB:4CGY|A 1 85 2e-48 PDB
SCOP:d1gkub3 5 85 7e-12 SMART
Blast:TOPRIM 10 85 7e-50 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mouse embryonic fibroblasts homozygous for a knock-out allele show impaired autophagy induction, a reduced autophagic flux, and abnormal expression of lysosomal enzymes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Smcr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Smcr8 APN 11 60,669,458 (GRCm39) splice site probably null
IGL00514:Smcr8 APN 11 60,669,193 (GRCm39) nonsense probably null
IGL01563:Smcr8 APN 11 60,674,671 (GRCm39) missense possibly damaging 0.55
IGL01650:Smcr8 APN 11 60,669,010 (GRCm39) missense probably damaging 1.00
IGL02390:Smcr8 APN 11 60,670,548 (GRCm39) missense probably benign 0.03
IGL03008:Smcr8 APN 11 60,669,287 (GRCm39) missense probably damaging 1.00
IGL03286:Smcr8 APN 11 60,668,853 (GRCm39) unclassified probably benign
chauvenist UTSW 11 60,669,424 (GRCm39) missense probably damaging 1.00
liberta UTSW 11 60,669,269 (GRCm39) missense probably damaging 1.00
patriot UTSW 11 60,668,858 (GRCm39) missense probably damaging 1.00
patriot2 UTSW 11 60,668,854 (GRCm39) start codon destroyed probably null 1.00
patriot3 UTSW 11 60,670,696 (GRCm39) nonsense probably null
R0022:Smcr8 UTSW 11 60,671,185 (GRCm39) missense probably damaging 1.00
R0022:Smcr8 UTSW 11 60,671,185 (GRCm39) missense probably damaging 1.00
R0197:Smcr8 UTSW 11 60,668,941 (GRCm39) missense probably damaging 1.00
R0333:Smcr8 UTSW 11 60,671,048 (GRCm39) missense possibly damaging 0.96
R0346:Smcr8 UTSW 11 60,670,576 (GRCm39) missense probably benign 0.00
R0701:Smcr8 UTSW 11 60,668,941 (GRCm39) missense probably damaging 1.00
R0720:Smcr8 UTSW 11 60,669,269 (GRCm39) missense probably damaging 1.00
R0883:Smcr8 UTSW 11 60,668,941 (GRCm39) missense probably damaging 1.00
R1178:Smcr8 UTSW 11 60,670,358 (GRCm39) missense probably damaging 1.00
R1418:Smcr8 UTSW 11 60,668,858 (GRCm39) missense probably damaging 1.00
R2012:Smcr8 UTSW 11 60,669,010 (GRCm39) missense probably damaging 1.00
R3690:Smcr8 UTSW 11 60,668,854 (GRCm39) start codon destroyed probably null 1.00
R3767:Smcr8 UTSW 11 60,670,330 (GRCm39) missense probably benign 0.30
R4801:Smcr8 UTSW 11 60,669,436 (GRCm39) splice site probably null
R4802:Smcr8 UTSW 11 60,669,436 (GRCm39) splice site probably null
R4862:Smcr8 UTSW 11 60,668,897 (GRCm39) missense probably benign 0.01
R5108:Smcr8 UTSW 11 60,670,696 (GRCm39) nonsense probably null
R5361:Smcr8 UTSW 11 60,669,118 (GRCm39) missense probably damaging 1.00
R5745:Smcr8 UTSW 11 60,674,977 (GRCm39) missense probably benign 0.00
R5806:Smcr8 UTSW 11 60,671,208 (GRCm39) critical splice donor site probably null
R6041:Smcr8 UTSW 11 60,670,394 (GRCm39) missense probably damaging 1.00
R6277:Smcr8 UTSW 11 60,669,635 (GRCm39) missense probably benign 0.07
R6289:Smcr8 UTSW 11 60,669,424 (GRCm39) missense probably damaging 1.00
R6445:Smcr8 UTSW 11 60,669,841 (GRCm39) missense possibly damaging 0.95
R6826:Smcr8 UTSW 11 60,669,688 (GRCm39) missense possibly damaging 0.85
R7062:Smcr8 UTSW 11 60,671,180 (GRCm39) missense probably damaging 1.00
R7176:Smcr8 UTSW 11 60,669,772 (GRCm39) missense probably damaging 1.00
R7516:Smcr8 UTSW 11 60,670,814 (GRCm39) missense probably benign 0.01
R7848:Smcr8 UTSW 11 60,670,750 (GRCm39) missense probably benign
R8487:Smcr8 UTSW 11 60,674,822 (GRCm39) missense probably damaging 0.98
R8552:Smcr8 UTSW 11 60,670,979 (GRCm39) missense probably damaging 1.00
R8717:Smcr8 UTSW 11 60,670,254 (GRCm39) missense probably damaging 1.00
R9204:Smcr8 UTSW 11 60,668,857 (GRCm39) missense probably damaging 1.00
R9218:Smcr8 UTSW 11 60,670,705 (GRCm39) missense probably benign
Z1186:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1186:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1186:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1187:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1187:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1187:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1188:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1188:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1188:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1189:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1189:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1189:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1190:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1190:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1190:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1191:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1191:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1191:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Z1192:Smcr8 UTSW 11 60,670,699 (GRCm39) missense probably benign
Z1192:Smcr8 UTSW 11 60,669,932 (GRCm39) missense probably benign
Z1192:Smcr8 UTSW 11 60,668,806 (GRCm39) unclassified probably benign
Posted On 2015-04-16