Incidental Mutation 'IGL03166:Snorc'
ID 411659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snorc
Ensembl Gene ENSMUSG00000026258
Gene Name secondary ossification center associated regulator of chondrocyte maturation
Synonyms Snorc, 3110079O15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03166
Quality Score
Status
Chromosome 1
Chromosomal Location 87397993-87403204 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 87402933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027476] [ENSMUST00000027477] [ENSMUST00000068681]
AlphaFold Q9CXL7
Predicted Effect probably benign
Transcript: ENSMUST00000027476
SMART Domains Protein: ENSMUSP00000027476
Gene: ENSMUSG00000026258

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DUF4690 26 121 7.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027477
SMART Domains Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 15 28 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
RhoGEF 187 366 8.16e-46 SMART
PH 400 513 1.2e-7 SMART
SH3 525 582 8.43e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068681
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
low complexity region 213 226 N/A INTRINSIC
RhoGEF 277 456 8.16e-46 SMART
PH 490 603 1.2e-7 SMART
SH3 615 672 8.43e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166463
Predicted Effect probably benign
Transcript: ENSMUST00000168235
SMART Domains Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
Blast:RhoGEF 2 40 1e-16 BLAST
PH 74 187 1.2e-7 SMART
Blast:SH3 199 232 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191095
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Reduced viability of homozygous mutants is seen. Surviving male homozygous mutant mice exhibit decreased mean serum triglyceride levels when compared with controls. Female homozygous mutants exhibit decreased activity levels during the 12-hour habituation period of home-cage activity testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Ankfn1 G T 11: 89,429,264 (GRCm39) A40D probably benign Het
Arhgap20 T A 9: 51,761,077 (GRCm39) I940K possibly damaging Het
Arhgap24 T C 5: 103,023,552 (GRCm39) probably benign Het
Bdp1 T C 13: 100,172,308 (GRCm39) T2103A probably benign Het
Cep350 A G 1: 155,739,346 (GRCm39) S2166P possibly damaging Het
Dlg2 T C 7: 91,549,938 (GRCm39) probably benign Het
Fhip2b A T 14: 70,827,616 (GRCm39) C160S probably damaging Het
Fyco1 A T 9: 123,657,452 (GRCm39) L908H probably benign Het
Gprc5b C A 7: 118,583,222 (GRCm39) A216S probably benign Het
Lamc1 A G 1: 153,208,047 (GRCm39) V80A probably benign Het
Lilra6 T C 7: 3,915,626 (GRCm39) I370V possibly damaging Het
Lim2 T A 7: 43,080,047 (GRCm39) C11* probably null Het
Lrp1b T A 2: 41,001,050 (GRCm39) H2058L probably damaging Het
Lrp3 G T 7: 34,901,905 (GRCm39) L659I probably benign Het
Lrrc8a T G 2: 30,145,377 (GRCm39) S64A probably benign Het
Lsr C T 7: 30,661,522 (GRCm39) probably null Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Man2c1 T A 9: 57,046,382 (GRCm39) V479E probably damaging Het
Mtf2 T A 5: 108,254,586 (GRCm39) D462E probably benign Het
Mx2 T C 16: 97,347,990 (GRCm39) I205T probably damaging Het
Nos1 T A 5: 118,052,517 (GRCm39) probably benign Het
Optc C T 1: 133,831,530 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,254 (GRCm39) N319D probably benign Het
Orm1 C A 4: 63,262,831 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,288,940 (GRCm39) E820G probably damaging Het
Pkp1 A T 1: 135,805,862 (GRCm39) M612K probably damaging Het
Pno1 T A 11: 17,154,513 (GRCm39) probably null Het
Rbm34 T C 8: 127,697,606 (GRCm39) Q35R probably damaging Het
Ryr3 A T 2: 112,471,457 (GRCm39) Y4564* probably null Het
Slc34a3 T C 2: 25,122,186 (GRCm39) I140V probably damaging Het
Slc43a1 T C 2: 84,687,700 (GRCm39) I419T possibly damaging Het
Sltm C A 9: 70,450,251 (GRCm39) A17E possibly damaging Het
Smpdl3b T C 4: 132,468,842 (GRCm39) D125G probably benign Het
Supt3 G T 17: 45,234,106 (GRCm39) A48S probably damaging Het
Tlr3 A G 8: 45,855,965 (GRCm39) F72L probably benign Het
Trim36 T C 18: 46,345,388 (GRCm39) E15G probably benign Het
Tubb4b-ps1 A T 5: 7,229,965 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,871,331 (GRCm39) T651A probably benign Het
Wdr76 G T 2: 121,364,787 (GRCm39) V462F possibly damaging Het
Wnk2 C A 13: 49,224,520 (GRCm39) G1112* probably null Het
Zfp868 A C 8: 70,064,965 (GRCm39) C123W probably damaging Het
Zyg11b T A 4: 108,123,086 (GRCm39) M294L probably benign Het
Other mutations in Snorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02988:Snorc UTSW 1 87,402,926 (GRCm39) splice site probably null
R7258:Snorc UTSW 1 87,402,789 (GRCm39) missense probably benign 0.01
R8903:Snorc UTSW 1 87,402,826 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02