Incidental Mutation 'IGL01563:Smcr8'
ID 90893
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 # IGL01563
Quality Score
Status
Chromosome 11
Chromosomal Location 60668351-60679113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60674671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 816 (R816C)
Ref Sequence ENSEMBL: ENSMUSP00000055926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018744] [ENSMUST00000056907] [ENSMUST00000102667]
AlphaFold Q3UMB5
Predicted Effect probably benign
Transcript: ENSMUST00000018744
SMART Domains Protein: ENSMUSP00000018744
Gene: ENSMUSG00000020534

DomainStartEndE-ValueType
Pfam:SHMT 20 419 1.3e-211 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056907
AA Change: R816C

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: R816C

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 78 262 5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102667
SMART Domains Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 87 255 8e-10 PFAM
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,604,965 (GRCm39) E2205G probably damaging Het
Arid2 G A 15: 96,270,278 (GRCm39) V1464I probably damaging Het
Axin2 A G 11: 108,814,631 (GRCm39) Q173R probably damaging Het
Best1 A G 19: 9,964,099 (GRCm39) F454L probably benign Het
CK137956 T G 4: 127,864,428 (GRCm39) K67T possibly damaging Het
Col14a1 G A 15: 55,351,337 (GRCm39) G1555R unknown Het
Csad G A 15: 102,095,598 (GRCm39) S153F probably damaging Het
Cyp4f40 A T 17: 32,892,930 (GRCm39) D315V probably damaging Het
Galnt3 G A 2: 65,928,101 (GRCm39) A265V probably damaging Het
Gm5901 C A 7: 105,026,722 (GRCm39) Y163* probably null Het
Golga4 A G 9: 118,356,074 (GRCm39) probably benign Het
Greb1l A G 18: 10,469,399 (GRCm39) D138G probably damaging Het
Has1 A T 17: 18,063,924 (GRCm39) probably benign Het
Ighv1-42 A G 12: 114,900,804 (GRCm39) S94P probably damaging Het
Katnb1 T A 8: 95,824,787 (GRCm39) L569Q probably damaging Het
Nedd1 C T 10: 92,534,031 (GRCm39) probably null Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or8c15 T A 9: 38,120,997 (GRCm39) I214N probably damaging Het
Pdcd4 G A 19: 53,917,552 (GRCm39) R463H probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ro60 A G 1: 143,637,120 (GRCm39) V364A probably benign Het
Rps19bp1 A G 15: 80,145,532 (GRCm39) M84T probably benign Het
Sass6 A T 3: 116,398,847 (GRCm39) D43V probably damaging Het
Senp6 G A 9: 80,029,290 (GRCm39) S551N probably benign Het
Sh2d2a A G 3: 87,759,432 (GRCm39) E273G probably damaging Het
Slc16a14 T C 1: 84,889,908 (GRCm39) probably benign Het
Trappc8 A T 18: 20,970,103 (GRCm39) N962K probably benign Het
Trpc6 A G 9: 8,656,604 (GRCm39) E677G probably damaging Het
Ubap2 G T 4: 41,195,998 (GRCm39) P961T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vps41 T C 13: 18,966,897 (GRCm39) probably benign Het
Vwf A T 6: 125,568,128 (GRCm39) D341V probably damaging Het
Zfp618 C T 4: 62,998,133 (GRCm39) P45L 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
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
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 2013-12-09