Incidental Mutation 'IGL01650:Smcr8'
ID 102797
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 # IGL01650
Quality Score
Status
Chromosome 11
Chromosomal Location 60668351-60679113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60669010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 53 (F53L)
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 damaging
Transcript: ENSMUST00000056907
AA Change: F53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: F53L

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 78 262 5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102667
AA Change: F53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: F53L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,070,067 (GRCm39) D281G probably damaging Het
Arhgap28 T C 17: 68,180,127 (GRCm39) E236G probably damaging Het
Bltp1 G A 3: 37,046,822 (GRCm39) probably benign Het
Btbd3 A T 2: 138,126,025 (GRCm39) D334V probably damaging Het
Cabp4 T C 19: 4,189,323 (GRCm39) E78G probably benign Het
Clcn4 T C 7: 7,287,280 (GRCm39) probably benign Het
Col14a1 A G 15: 55,270,089 (GRCm39) Y600C unknown Het
Cpne4 A G 9: 104,778,710 (GRCm39) D167G probably damaging Het
Eif3a T A 19: 60,762,434 (GRCm39) I450F probably damaging Het
Enpp2 T A 15: 54,783,329 (GRCm39) Y10F probably benign Het
Fam227a A T 15: 79,518,274 (GRCm39) H339Q possibly damaging Het
Far2 C A 6: 148,074,985 (GRCm39) T406K possibly damaging Het
Fmo1 A G 1: 162,661,153 (GRCm39) S377P probably benign Het
Fsip2 G A 2: 82,821,430 (GRCm39) S5721N probably benign Het
Gatb T C 3: 85,520,791 (GRCm39) I300T possibly damaging Het
Gpam T C 19: 55,070,132 (GRCm39) N375D probably benign Het
Gsdma G T 11: 98,564,513 (GRCm39) D331Y probably damaging Het
Kif13b T C 14: 65,002,594 (GRCm39) V1073A probably benign Het
Mfsd4b1 T A 10: 39,879,115 (GRCm39) M261L probably benign Het
Nav1 A T 1: 135,382,498 (GRCm39) D1321E probably damaging Het
Or4f59 A G 2: 111,872,720 (GRCm39) I219T possibly damaging Het
Or52j3 A G 7: 102,836,286 (GRCm39) I159M probably benign Het
Or6c69 A G 10: 129,747,550 (GRCm39) V199A probably benign Het
Or6c76b T A 10: 129,692,936 (GRCm39) L183Q probably damaging Het
Or8g32 G T 9: 39,305,252 (GRCm39) S55I probably damaging Het
Ppp1r10 G T 17: 36,242,053 (GRCm39) R857L unknown Het
Prune2 T A 19: 17,145,656 (GRCm39) I2752N possibly damaging Het
Pxdn T C 12: 30,052,400 (GRCm39) I859T probably benign Het
Ros1 T C 10: 52,031,075 (GRCm39) D510G probably damaging Het
Sema3g C A 14: 30,943,744 (GRCm39) P208H probably benign Het
Tnfsf13b A T 8: 10,081,411 (GRCm39) I219F probably damaging Het
Vmn1r62 T C 7: 5,679,024 (GRCm39) V235A probably damaging Het
Vmn2r44 C A 7: 8,383,103 (GRCm39) probably null Het
Zkscan7 A G 9: 122,723,892 (GRCm39) D287G 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
IGL02390:Smcr8 APN 11 60,670,548 (GRCm39) missense probably benign 0.03
IGL02582:Smcr8 APN 11 60,669,721 (GRCm39) missense probably benign 0.00
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 2014-01-21