Incidental Mutation 'IGL01105:Sim1'
ID52103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sim1
Ensembl Gene ENSMUSG00000019913
Gene Namesingle-minded family bHLH transcription factor 1
SynonymsbHLHe14
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01105
Quality Score
Status
Chromosome10
Chromosomal Location50894754-50989152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50981534 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 460 (H460R)
Ref Sequence ENSEMBL: ENSMUSP00000020071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020071]
Predicted Effect probably damaging
Transcript: ENSMUST00000020071
AA Change: H460R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: H460R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,972,059 V302E probably damaging Het
Ahcy T C 2: 155,067,361 D86G probably benign Het
Antxr2 G T 5: 98,004,943 probably benign Het
Cadps2 A G 6: 23,321,700 probably benign Het
Cdhr4 C T 9: 107,995,861 probably benign Het
Cdkn2c C T 4: 109,661,626 V44I probably damaging Het
Chodl T C 16: 78,941,263 Y40H probably damaging Het
Heatr3 A G 8: 88,161,893 D391G probably benign Het
Hephl1 T C 9: 15,089,024 T311A possibly damaging Het
Itpr1 G A 6: 108,381,333 S620N probably benign Het
Kank1 T A 19: 25,424,316 S1096T possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Krtap9-5 A G 11: 99,948,633 I53M unknown Het
Limk2 G A 11: 3,355,475 probably benign Het
Lrig2 G A 3: 104,464,168 R382* probably null Het
Mamdc2 T A 19: 23,331,002 D512V probably benign Het
March1 A T 8: 66,418,877 T353S possibly damaging Het
Mrc2 A G 11: 105,328,741 D312G probably damaging Het
Myh9 C T 15: 77,781,478 M627I probably benign Het
Nipa2 A T 7: 55,933,445 I184N probably damaging Het
Npy1r A G 8: 66,704,776 K246R probably benign Het
Pank4 C T 4: 154,972,465 probably benign Het
Pcdh12 T A 18: 38,275,347 E1035D probably damaging Het
Pias2 T A 18: 77,133,156 D362E probably damaging Het
Pkd1l3 G T 8: 109,662,241 V1872L possibly damaging Het
Postn T G 3: 54,362,710 I70S probably damaging Het
Ppef2 A G 5: 92,249,196 S107P possibly damaging Het
Prl3c1 T C 13: 27,202,425 V131A probably benign Het
Qsox2 A G 2: 26,209,685 V609A probably benign Het
Rhebl1 C A 15: 98,878,498 E139D probably benign Het
Ryr3 A G 2: 112,751,805 S2848P probably damaging Het
Scd2 T A 19: 44,298,058 I109N probably benign Het
Slc35f3 C A 8: 126,298,814 P10Q probably damaging Het
Slf1 T C 13: 77,100,912 probably benign Het
Stk10 G T 11: 32,577,740 V163L probably benign Het
Tssk6 A G 8: 69,902,812 T169A probably benign Het
Usp28 T A 9: 49,010,250 V256E probably damaging Het
Vmn2r77 A T 7: 86,811,664 I733F probably damaging Het
Other mutations in Sim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Sim1 APN 10 50910671 missense probably damaging 0.99
IGL01886:Sim1 APN 10 50984315 missense probably damaging 1.00
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
Posted On2013-06-21