Incidental Mutation 'R0333:Smcr8'
ID 38344
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 038542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0333 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60668351-60679113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60671048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 732 (V732A)
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 possibly damaging
Transcript: ENSMUST00000056907
AA Change: V732A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: V732A

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Folliculin 78 262 5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102667
AA Change: V732A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: V732A

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 0.1900 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 T C 9: 106,118,480 (GRCm39) N214S probably benign Het
Antxr1 A G 6: 87,165,820 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,818 (GRCm39) probably null Het
Cab39l A G 14: 59,737,060 (GRCm39) E60G probably damaging Het
Cdc5l G T 17: 45,704,142 (GRCm39) probably benign Het
Cux2 T C 5: 121,998,671 (GRCm39) E1423G probably benign Het
Dbndd1 G T 8: 124,233,512 (GRCm39) Q165K probably damaging Het
Drd1 C A 13: 54,208,082 (GRCm39) C37F probably damaging Het
Elp3 G A 14: 65,828,042 (GRCm39) P11L probably benign Het
F830045P16Rik A G 2: 129,314,777 (GRCm39) Y167H probably damaging Het
Gimap3 G A 6: 48,742,664 (GRCm39) Q89* probably null Het
H2ac25 C A 11: 58,845,685 (GRCm39) S41* probably null Het
Herc1 G A 9: 66,371,981 (GRCm39) probably null Het
Ipo11 A G 13: 107,007,271 (GRCm39) V603A probably benign Het
Kifap3 G A 1: 163,624,833 (GRCm39) A130T probably damaging Het
Klhl23 A G 2: 69,664,241 (GRCm39) Y530C probably damaging Het
Map4k1 C T 7: 28,699,186 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,600 (GRCm39) L778M probably damaging Het
Mtdh T C 15: 34,118,247 (GRCm39) S344P possibly damaging Het
Ncoa3 T G 2: 165,896,211 (GRCm39) N371K probably damaging Het
Ncor2 C A 5: 125,111,408 (GRCm39) probably benign Het
Nrn1l A G 8: 106,621,052 (GRCm39) E48G probably benign Het
Nudcd1 A G 15: 44,264,683 (GRCm39) I271T probably benign Het
Or1e17 A T 11: 73,831,593 (GRCm39) I174F possibly damaging Het
Or2t1 T C 14: 14,328,498 (GRCm38) L129P probably damaging Het
Pard3b A G 1: 62,269,371 (GRCm39) N653S probably benign Het
Plekhg1 A C 10: 3,914,419 (GRCm39) K1380N probably damaging Het
Ppara T A 15: 85,675,161 (GRCm39) I210N probably damaging Het
Ppp2r5b A G 19: 6,279,077 (GRCm39) probably benign Het
Prkn T C 17: 11,286,027 (GRCm39) F6L probably damaging Het
Prr14l A G 5: 32,985,337 (GRCm39) L1386P probably damaging Het
Ralgapa1 A G 12: 55,829,685 (GRCm39) probably benign Het
Reln A T 5: 22,134,240 (GRCm39) L2563I probably damaging Het
Rps7 A G 12: 28,681,200 (GRCm39) probably benign Het
Rslcan18 T C 13: 67,246,686 (GRCm39) K309E probably damaging Het
Sec14l5 C T 16: 4,984,930 (GRCm39) T92M probably damaging Het
Slc22a8 G A 19: 8,585,514 (GRCm39) probably benign Het
Smad2 G A 18: 76,395,692 (GRCm39) A44T probably damaging Het
Spata2l A G 8: 123,960,371 (GRCm39) F306S probably damaging Het
Stab2 T C 10: 86,677,491 (GRCm39) D2552G probably benign Het
Tctn3 A T 19: 40,595,711 (GRCm39) L358H possibly damaging Het
Tk2 C T 8: 104,975,146 (GRCm39) probably benign Het
Tm6sf2 C T 8: 70,530,564 (GRCm39) R215C probably damaging Het
Tmbim6 T C 15: 99,304,555 (GRCm39) I204T probably damaging Het
Tubgcp2 C A 7: 139,579,260 (GRCm39) W675C probably damaging Het
Usp48 T A 4: 137,321,794 (GRCm39) I62N probably damaging Het
Vmn2r74 T C 7: 85,601,491 (GRCm39) T716A probably benign Het
Vps13b C A 15: 35,879,949 (GRCm39) T3008K probably damaging Het
Wnk1 G A 6: 119,905,124 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGGAAAACACTGACCCTTCTCCC -3'
(R):5'- CCTGGAACCAGTTACCTTTGTAGGC -3'

Sequencing Primer
(F):5'- TGAGCCTGGATAACTACTCGG -3'
(R):5'- TTGTAGGCCAATAAGCTTCCAC -3'
Posted On 2013-05-23