Incidental Mutation 'R0128:Sim1'
ID 60516
Institutional Source Beutler Lab
Gene Symbol Sim1
Ensembl Gene ENSMUSG00000019913
Gene Name single-minded family bHLH transcription factor 1
Synonyms bHLHe14
MMRRC Submission 038413-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0128 (G1)
Quality Score 220
Status Validated
Chromosome 10
Chromosomal Location 50770850-50865248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50784057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 104 (I104F)
Ref Sequence ENSEMBL: ENSMUSP00000020071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020071]
AlphaFold Q61045
Predicted Effect probably damaging
Transcript: ENSMUST00000020071
AA Change: I104F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: I104F

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
Meta Mutation Damage Score 0.4581 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,602 (GRCm39) probably benign Het
Abcd4 T G 12: 84,659,126 (GRCm39) Q210P possibly damaging Het
Ablim2 G A 5: 35,966,520 (GRCm39) probably benign Het
Acte1 G T 7: 143,445,492 (GRCm39) G178C probably damaging Het
Actl6b A G 5: 137,553,327 (GRCm39) N113S probably benign Het
Actn3 A T 19: 4,921,643 (GRCm39) V179E probably damaging Het
Aff4 C A 11: 53,306,293 (GRCm39) T1145N probably damaging Het
Ankrd42 G A 7: 92,241,067 (GRCm39) Q431* probably null Het
Anxa9 A G 3: 95,209,733 (GRCm39) S129P probably benign Het
Arfgef2 T G 2: 166,677,639 (GRCm39) I88S probably damaging Het
Asap3 C A 4: 135,961,915 (GRCm39) N285K probably damaging Het
Atp6v0a2 A G 5: 124,790,248 (GRCm39) N477S probably damaging Het
Atp7b C T 8: 22,518,188 (GRCm39) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm39) probably null Het
C87436 G A 6: 86,446,809 (GRCm39) G533D probably damaging Het
Ccdc138 T A 10: 58,364,182 (GRCm39) I314N probably damaging Het
Ccs A G 19: 4,875,654 (GRCm39) F237S probably damaging Het
Ccz1 T G 5: 143,946,112 (GRCm39) probably benign Het
Cdcp2 C T 4: 106,963,904 (GRCm39) probably benign Het
Chd1 A G 17: 17,613,829 (GRCm39) N531S probably damaging Het
Clptm1 A T 7: 19,368,932 (GRCm39) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cped1 T A 6: 22,121,038 (GRCm39) Y373N probably benign Het
Cr2 A T 1: 194,848,539 (GRCm39) V328D probably damaging Het
D630045J12Rik A T 6: 38,126,706 (GRCm39) probably benign Het
Dcdc2a A T 13: 25,371,655 (GRCm39) probably benign Het
Dlg1 G T 16: 31,676,883 (GRCm39) probably null Het
Epb41l5 A C 1: 119,477,632 (GRCm39) V705G possibly damaging Het
Ergic3 C A 2: 155,853,060 (GRCm39) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,608,903 (GRCm39) Y928H probably damaging Het
Fyn C T 10: 39,387,978 (GRCm39) T78M probably benign Het
Gdap2 A G 3: 100,109,311 (GRCm39) T443A probably damaging Het
Ghrl A T 6: 113,694,129 (GRCm39) probably benign Het
Gm4787 T A 12: 81,424,521 (GRCm39) K546* probably null Het
Gm6576 C G 15: 27,026,086 (GRCm39) noncoding transcript Het
Got1 C T 19: 43,512,816 (GRCm39) D27N probably benign Het
Gucy2c C T 6: 136,681,247 (GRCm39) V946I probably damaging Het
Hectd4 T C 5: 121,487,306 (GRCm39) Y3434H possibly damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Itpr1 A G 6: 108,448,170 (GRCm39) probably benign Het
Kctd1 G A 18: 15,107,237 (GRCm39) P743S probably benign Het
Klhl23 T C 2: 69,664,310 (GRCm39) V553A probably damaging Het
Krt24 T C 11: 99,171,093 (GRCm39) D495G probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Lipo3 C T 19: 33,534,506 (GRCm39) probably null Het
Lman2l G T 1: 36,463,945 (GRCm39) S171* probably null Het
Lrp1b T C 2: 41,401,520 (GRCm39) D378G probably damaging Het
Map3k4 T A 17: 12,466,950 (GRCm39) D1104V probably damaging Het
Mpeg1 T C 19: 12,438,587 (GRCm39) V15A probably benign Het
Narf C T 11: 121,141,662 (GRCm39) R356C probably damaging Het
Nebl T A 2: 17,397,834 (GRCm39) Q487H possibly damaging Het
Olfm5 G A 7: 103,810,133 (GRCm39) A76V probably benign Het
Or1j11 T A 2: 36,312,299 (GRCm39) D296E probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or52p1 A T 7: 104,267,788 (GRCm39) I301F probably damaging Het
Or5ak22 T A 2: 85,230,305 (GRCm39) S191C probably damaging Het
Or8k40 T C 2: 86,584,231 (GRCm39) M284V probably benign Het
Palb2 A T 7: 121,727,389 (GRCm39) Y160* probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Paxip1 C T 5: 27,949,183 (GRCm39) probably benign Het
Pclo A G 5: 14,729,811 (GRCm39) probably benign Het
Pdcd11 G A 19: 47,108,301 (GRCm39) V1223I probably benign Het
Pde6c T C 19: 38,157,813 (GRCm39) probably benign Het
Prr12 A G 7: 44,699,463 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,281 (GRCm39) probably benign Het
Samd5 A G 10: 9,550,683 (GRCm39) W9R probably damaging Het
Sfr1 A G 19: 47,723,457 (GRCm39) *320W probably null Het
Sft2d1rt A G 11: 45,943,120 (GRCm39) M1T probably null Het
Sh3bp4 A G 1: 89,073,036 (GRCm39) N628S possibly damaging Het
Slc1a3 T C 15: 8,665,693 (GRCm39) M519V probably benign Het
Smcp T A 3: 92,491,827 (GRCm39) T7S unknown Het
Sp4 A G 12: 118,264,551 (GRCm39) probably benign Het
Spag9 T A 11: 93,984,365 (GRCm39) I327N probably damaging Het
Thbs4 G T 13: 92,890,918 (GRCm39) H850N probably benign Het
Ubap2l A T 3: 89,928,680 (GRCm39) S478T possibly damaging Het
Unc79 A G 12: 103,054,693 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,255,054 (GRCm39) probably benign Het
Wrap73 A G 4: 154,226,957 (GRCm39) D19G possibly damaging Het
Other mutations in Sim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Sim1 APN 10 50,857,630 (GRCm39) missense probably damaging 0.99
IGL01142:Sim1 APN 10 50,786,767 (GRCm39) missense probably damaging 0.99
IGL01886:Sim1 APN 10 50,860,411 (GRCm39) missense probably damaging 1.00
PIT4585001:Sim1 UTSW 10 50,860,284 (GRCm39) nonsense probably null
R0130:Sim1 UTSW 10 50,784,057 (GRCm39) missense probably damaging 1.00
R0717:Sim1 UTSW 10 50,785,924 (GRCm39) missense probably damaging 1.00
R0948:Sim1 UTSW 10 50,857,423 (GRCm39) nonsense probably null
R1169:Sim1 UTSW 10 50,857,618 (GRCm39) missense probably benign 0.13
R1388:Sim1 UTSW 10 50,772,090 (GRCm39) missense probably damaging 1.00
R1746:Sim1 UTSW 10 50,860,205 (GRCm39) missense probably benign
R1778:Sim1 UTSW 10 50,857,649 (GRCm39) nonsense probably null
R1834:Sim1 UTSW 10 50,785,924 (GRCm39) missense probably damaging 1.00
R2434:Sim1 UTSW 10 50,784,054 (GRCm39) missense probably damaging 1.00
R2919:Sim1 UTSW 10 50,785,911 (GRCm39) missense probably benign 0.23
R3617:Sim1 UTSW 10 50,785,624 (GRCm39) missense probably damaging 1.00
R3625:Sim1 UTSW 10 50,857,432 (GRCm39) missense probably benign 0.30
R4152:Sim1 UTSW 10 50,859,950 (GRCm39) missense probably damaging 0.98
R4414:Sim1 UTSW 10 50,857,708 (GRCm39) missense probably benign 0.13
R4645:Sim1 UTSW 10 50,860,093 (GRCm39) missense probably benign 0.13
R4781:Sim1 UTSW 10 50,859,881 (GRCm39) missense probably benign 0.08
R4889:Sim1 UTSW 10 50,857,420 (GRCm39) missense probably benign 0.05
R4924:Sim1 UTSW 10 50,785,998 (GRCm39) missense probably damaging 1.00
R6625:Sim1 UTSW 10 50,860,082 (GRCm39) missense probably benign
R6783:Sim1 UTSW 10 50,784,823 (GRCm39) missense possibly damaging 0.72
R6876:Sim1 UTSW 10 50,859,791 (GRCm39) missense possibly damaging 0.77
R6909:Sim1 UTSW 10 50,785,506 (GRCm39) missense possibly damaging 0.92
R6924:Sim1 UTSW 10 50,784,635 (GRCm39) missense probably benign 0.10
R7016:Sim1 UTSW 10 50,860,346 (GRCm39) missense probably benign 0.03
R7135:Sim1 UTSW 10 50,772,023 (GRCm39) missense probably damaging 0.99
R7149:Sim1 UTSW 10 50,785,636 (GRCm39) missense probably damaging 1.00
R7300:Sim1 UTSW 10 50,785,614 (GRCm39) missense probably benign 0.23
R7750:Sim1 UTSW 10 50,772,131 (GRCm39) missense possibly damaging 0.94
R7973:Sim1 UTSW 10 50,857,419 (GRCm39) missense probably damaging 1.00
R8087:Sim1 UTSW 10 50,785,651 (GRCm39) missense possibly damaging 0.95
R8670:Sim1 UTSW 10 50,784,849 (GRCm39) missense probably damaging 1.00
R8782:Sim1 UTSW 10 50,772,165 (GRCm39) missense probably benign 0.11
R8894:Sim1 UTSW 10 50,786,626 (GRCm39) missense possibly damaging 0.96
R9000:Sim1 UTSW 10 50,860,317 (GRCm39) missense possibly damaging 0.79
R9000:Sim1 UTSW 10 50,860,316 (GRCm39) missense probably benign 0.31
R9103:Sim1 UTSW 10 50,785,525 (GRCm39) missense possibly damaging 0.91
R9153:Sim1 UTSW 10 50,772,029 (GRCm39) missense probably damaging 1.00
R9163:Sim1 UTSW 10 50,772,165 (GRCm39) missense probably benign 0.11
R9279:Sim1 UTSW 10 50,859,796 (GRCm39) missense probably damaging 1.00
Z1177:Sim1 UTSW 10 50,860,424 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GCTGGACCTATTTCCTGTTGAAGGC -3'
(R):5'- GCGGAGCTATTGAGTCATCCTGTC -3'

Sequencing Primer
(F):5'- ACTTACAGACCTGGGAGGTTC -3'
(R):5'- GAGTCATCCTGTCTGTCACCTAAG -3'
Posted On 2013-07-24