Incidental Mutation 'IGL01329:Sim2'
ID74436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sim2
Ensembl Gene ENSMUSG00000062713
Gene Namesingle-minded family bHLH transcription factor 2
SynonymsbHLHe15
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01329
Quality Score
Status
Chromosome16
Chromosomal Location94084931-94127032 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94106260 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 154 (Y154H)
Ref Sequence ENSEMBL: ENSMUSP00000072043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072182] [ENSMUST00000231688]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072182
AA Change: Y154H

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: Y154H

DomainStartEndE-ValueType
HLH 6 58 6.99e-5 SMART
PAS 79 145 7.8e-13 SMART
PAS 220 286 1.31e-5 SMART
PAC 292 335 2.44e-5 SMART
Pfam:SIM_C 358 650 4.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231688
AA Change: Y154H

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A G 19: 23,652,736 probably benign Het
Abcb4 T C 5: 8,894,166 probably null Het
Ankib1 A T 5: 3,734,194 probably benign Het
Birc3 T C 9: 7,860,732 Y195C probably damaging Het
Cand2 T C 6: 115,782,794 I142T probably benign Het
Cd163l1 T A 7: 140,224,639 probably null Het
Cdh15 T C 8: 122,865,323 probably benign Het
Ceacam5 G A 7: 17,745,609 G217D probably damaging Het
Cfap54 T A 10: 93,081,523 H25L unknown Het
Col22a1 A G 15: 71,907,040 V266A probably benign Het
D3Ertd751e A G 3: 41,748,697 D69G probably benign Het
Dnah3 T C 7: 120,022,941 I1518V probably damaging Het
Entpd8 A G 2: 25,084,346 K381R probably benign Het
Fli1 T A 9: 32,424,101 K345I probably damaging Het
G6pd2 T C 5: 61,809,938 V352A probably damaging Het
Gbp11 C T 5: 105,327,616 probably null Het
Gm11992 A G 11: 9,068,383 *292W probably null Het
Ifnar2 T A 16: 91,391,711 probably benign Het
Impg1 T C 9: 80,322,829 K661R probably benign Het
Inf2 G T 12: 112,611,856 E651* probably null Het
Ints1 A G 5: 139,767,503 probably benign Het
Iqcf4 T C 9: 106,570,633 K26E probably benign Het
Map4k3 A G 17: 80,644,184 V289A probably benign Het
Mis18bp1 T C 12: 65,158,441 K319R possibly damaging Het
Nubpl T C 12: 52,305,855 V291A probably damaging Het
Olfr1085 T C 2: 86,658,207 N84D probably benign Het
Olfr1305 A G 2: 111,872,950 F302L probably benign Het
Olfr726 C T 14: 50,083,997 R228H probably benign Het
Olfr983 A G 9: 40,092,028 S313P possibly damaging Het
Otof A G 5: 30,441,379 S29P probably benign Het
Pcca A G 14: 122,690,133 D436G possibly damaging Het
Rasef T A 4: 73,727,645 T496S probably damaging Het
Saa2 A G 7: 46,753,472 D49G probably benign Het
Scn2a A G 2: 65,717,508 I1015V probably benign Het
Spag17 A G 3: 100,095,549 H1863R probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Svil A G 18: 5,064,501 E1111G probably benign Het
Trabd2b T C 4: 114,409,125 V112A probably damaging Het
Vmn1r205 T C 13: 22,592,103 I276M probably benign Het
Vps13d A T 4: 145,156,206 I939N possibly damaging Het
Zc3h11a T C 1: 133,625,862 M515V probably benign Het
Zfp457 T C 13: 67,294,266 T82A possibly damaging Het
Other mutations in Sim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sim2 APN 16 94114944 nonsense probably null
IGL01965:Sim2 APN 16 94121178 missense probably benign 0.20
IGL01979:Sim2 APN 16 94123482 missense possibly damaging 0.81
IGL02821:Sim2 APN 16 94097188 missense probably damaging 1.00
IGL03027:Sim2 APN 16 94109492 splice site probably benign
P0027:Sim2 UTSW 16 94109422 missense probably benign 0.02
PIT4696001:Sim2 UTSW 16 94094309 missense possibly damaging 0.49
R1836:Sim2 UTSW 16 94123577 critical splice donor site probably null
R2034:Sim2 UTSW 16 94085942 missense probably damaging 0.96
R4085:Sim2 UTSW 16 94109354 missense possibly damaging 0.48
R4475:Sim2 UTSW 16 94125791 missense probably benign
R4476:Sim2 UTSW 16 94125791 missense probably benign
R4647:Sim2 UTSW 16 94123526 missense possibly damaging 0.71
R4919:Sim2 UTSW 16 94109335 missense probably benign 0.01
R4966:Sim2 UTSW 16 94123421 missense probably benign 0.03
R5320:Sim2 UTSW 16 94104739 missense probably benign 0.01
R5555:Sim2 UTSW 16 94109456 missense probably damaging 1.00
R5591:Sim2 UTSW 16 94097189 missense probably damaging 1.00
R5870:Sim2 UTSW 16 94123334 missense probably damaging 0.99
R6020:Sim2 UTSW 16 94097251 missense probably damaging 1.00
R6302:Sim2 UTSW 16 94097230 missense probably damaging 1.00
R6883:Sim2 UTSW 16 94125536 missense probably benign 0.00
R7170:Sim2 UTSW 16 94122700 missense probably benign 0.00
T0722:Sim2 UTSW 16 94109422 missense probably benign 0.02
X0063:Sim2 UTSW 16 94122698 missense possibly damaging 0.89
Posted On2013-10-07