Incidental Mutation 'R4862:Smcr8'
ID 374599
Institutional Source Beutler Lab
Gene Symbol Smcr8
Ensembl Gene ENSMUSG00000049323
Gene Name Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
Synonyms 2310076G09Rik, D030073L15Rik
MMRRC Submission 043260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4862 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60668351-60679113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60668897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 15 (E15G)
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: E15G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: E15G

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: E15G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: E15G

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
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 95% (40/42)
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
Acox3 A G 5: 35,747,083 (GRCm39) T167A probably benign Het
Aox1 T G 1: 58,134,316 (GRCm39) D1096E probably damaging Het
Arid4a A T 12: 71,122,721 (GRCm39) D1034V probably damaging Het
Ccdc168 G A 1: 44,097,178 (GRCm39) P1307S possibly damaging Het
Chaf1b T A 16: 93,684,022 (GRCm39) L91Q probably damaging Het
Copb2 G T 9: 98,463,320 (GRCm39) D512Y probably damaging Het
Daam1 A G 12: 71,988,981 (GRCm39) E127G unknown Het
Dhx16 A G 17: 36,194,154 (GRCm39) I422V probably benign Het
Dnah6 C T 6: 73,098,771 (GRCm39) V2043I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync2h1 A G 9: 7,147,717 (GRCm39) V971A probably benign Het
Elapor1 A G 3: 108,375,149 (GRCm39) S573P probably benign Het
Elmo1 A G 13: 20,633,682 (GRCm39) H448R probably benign Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Igkv6-13 C A 6: 70,434,765 (GRCm39) V27L probably benign Het
Krt28 A T 11: 99,255,936 (GRCm39) I441N possibly damaging Het
Lgr5 A T 10: 115,298,669 (GRCm39) D286E probably damaging Het
Mapkap1 A G 2: 34,513,442 (GRCm39) Y448C probably damaging Het
Or2f1 T C 6: 42,721,489 (GRCm39) Y173H possibly damaging Het
Or5t9 T A 2: 86,659,876 (GRCm39) V260E probably damaging Het
Ppt1 A C 4: 122,738,242 (GRCm39) N89T probably damaging Het
Prss3b T G 6: 41,009,345 (GRCm39) D163A possibly damaging Het
Ptgs1 G T 2: 36,127,267 (GRCm39) R51L probably damaging Het
Slc47a2 A G 11: 61,204,520 (GRCm39) F277S possibly damaging Het
Tbce A G 13: 14,173,004 (GRCm39) S476P possibly damaging Het
Tmem131l A T 3: 83,805,517 (GRCm39) probably benign Het
Unc5c T C 3: 141,495,534 (GRCm39) Y468H probably damaging Het
Ush1c A T 7: 45,878,664 (GRCm39) L117H probably damaging Het
Wdfy4 A G 14: 32,822,860 (GRCm39) probably null Het
Zfa-ps G T 10: 52,419,192 (GRCm39) noncoding transcript Het
Zfat C A 15: 68,051,959 (GRCm39) A605S probably benign Het
Zfp853 T A 5: 143,275,416 (GRCm39) Q68L unknown Het
Zfyve16 G A 13: 92,644,764 (GRCm39) T1146I probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTAGGATCCCCGGAAGTGC -3'
(R):5'- ACGAATGAAGCCTGGTAATCC -3'

Sequencing Primer
(F):5'- TCCCCGGAAGTGCAAAGAAG -3'
(R):5'- CAAAAACTTTGGTGTCATTGGGG -3'
Posted On 2016-03-17