Incidental Mutation 'IGL01886:Sim1'
ID 179131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sim1
Ensembl Gene ENSMUSG00000019913
Gene Name single-minded family bHLH transcription factor 1
Synonyms bHLHe14
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01886
Quality Score
Status
Chromosome 10
Chromosomal Location 50894754-50989152 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50984315 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 758 (S758T)
Ref Sequence ENSEMBL: ENSMUSP00000020071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020071]
AlphaFold Q61045
Predicted Effect probably damaging
Transcript: ENSMUST00000020071
AA Change: S758T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: S758T

DomainStartEndE-ValueType
HLH 6 59 8.73e-6 SMART
PAS 79 145 7.39e-14 SMART
PAS 220 286 5.61e-5 SMART
PAC 292 335 4.63e-6 SMART
Pfam:SIM_C 359 668 2.5e-114 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with abnormalities in the paraventricular and supraoptic nuclei. Heterozygous mutant mice are obese and may also be diabetic, hyperinsulinemic and insulin resistant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Sim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Sim1 APN 10 50981534 missense probably damaging 0.99
IGL01142:Sim1 APN 10 50910671 missense probably damaging 0.99
PIT4585001:Sim1 UTSW 10 50984188 nonsense probably null
R0128:Sim1 UTSW 10 50907961 missense probably damaging 1.00
R0130:Sim1 UTSW 10 50907961 missense probably damaging 1.00
R0717:Sim1 UTSW 10 50909828 missense probably damaging 1.00
R0948:Sim1 UTSW 10 50981327 nonsense probably null
R1169:Sim1 UTSW 10 50981522 missense probably benign 0.13
R1388:Sim1 UTSW 10 50895994 missense probably damaging 1.00
R1746:Sim1 UTSW 10 50984109 missense probably benign
R1778:Sim1 UTSW 10 50981553 nonsense probably null
R1834:Sim1 UTSW 10 50909828 missense probably damaging 1.00
R2434:Sim1 UTSW 10 50907958 missense probably damaging 1.00
R2919:Sim1 UTSW 10 50909815 missense probably benign 0.23
R3617:Sim1 UTSW 10 50909528 missense probably damaging 1.00
R3625:Sim1 UTSW 10 50981336 missense probably benign 0.30
R4152:Sim1 UTSW 10 50983854 missense probably damaging 0.98
R4414:Sim1 UTSW 10 50981612 missense probably benign 0.13
R4645:Sim1 UTSW 10 50983997 missense probably benign 0.13
R4781:Sim1 UTSW 10 50983785 missense probably benign 0.08
R4889:Sim1 UTSW 10 50981324 missense probably benign 0.05
R4924:Sim1 UTSW 10 50909902 missense probably damaging 1.00
R6625:Sim1 UTSW 10 50983986 missense probably benign
R6783:Sim1 UTSW 10 50908727 missense possibly damaging 0.72
R6876:Sim1 UTSW 10 50983695 missense possibly damaging 0.77
R6909:Sim1 UTSW 10 50909410 missense possibly damaging 0.92
R6924:Sim1 UTSW 10 50908539 missense probably benign 0.10
R7016:Sim1 UTSW 10 50984250 missense probably benign 0.03
R7135:Sim1 UTSW 10 50895927 missense probably damaging 0.99
R7149:Sim1 UTSW 10 50909540 missense probably damaging 1.00
R7300:Sim1 UTSW 10 50909518 missense probably benign 0.23
R7750:Sim1 UTSW 10 50896035 missense possibly damaging 0.94
R7973:Sim1 UTSW 10 50981323 missense probably damaging 1.00
R8087:Sim1 UTSW 10 50909555 missense possibly damaging 0.95
R8670:Sim1 UTSW 10 50908753 missense probably damaging 1.00
R8782:Sim1 UTSW 10 50896069 missense probably benign 0.11
R8894:Sim1 UTSW 10 50910530 missense possibly damaging 0.96
R9000:Sim1 UTSW 10 50984220 missense probably benign 0.31
R9000:Sim1 UTSW 10 50984221 missense possibly damaging 0.79
R9103:Sim1 UTSW 10 50909429 missense possibly damaging 0.91
R9153:Sim1 UTSW 10 50895933 missense probably damaging 1.00
R9163:Sim1 UTSW 10 50896069 missense probably benign 0.11
R9279:Sim1 UTSW 10 50983700 missense probably damaging 1.00
Z1177:Sim1 UTSW 10 50984328 missense possibly damaging 0.66
Posted On 2014-05-07