Incidental Mutation 'R6876:Sim1'
ID 536423
Institutional Source Beutler Lab
Gene Symbol Sim1
Ensembl Gene ENSMUSG00000019913
Gene Name single-minded family bHLH transcription factor 1
Synonyms bHLHe14
MMRRC Submission 044972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6876 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 50770850-50865248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50859791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 551 (E551G)
Ref Sequence ENSEMBL: ENSMUSP00000020071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020071]
AlphaFold Q61045
Predicted Effect possibly damaging
Transcript: ENSMUST00000020071
AA Change: E551G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: E551G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,044,288 (GRCm39) T201A probably damaging Het
Abca12 T A 1: 71,302,667 (GRCm39) D2184V probably damaging Het
Abcf1 C T 17: 36,270,136 (GRCm39) D641N probably benign Het
Adgrv1 C A 13: 81,303,273 (GRCm39) probably null Het
Aftph T C 11: 20,659,744 (GRCm39) E693G probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Arv1 A G 8: 125,457,651 (GRCm39) K185R probably damaging Het
Ces4a T A 8: 105,871,624 (GRCm39) V258D possibly damaging Het
Col6a5 T C 9: 105,814,506 (GRCm39) D502G unknown Het
Diaph1 A T 18: 38,029,426 (GRCm39) H335Q unknown Het
Dtna G A 18: 23,744,167 (GRCm39) V404I probably benign Het
Ephb1 T C 9: 101,861,319 (GRCm39) D615G probably damaging Het
Gimap3 A T 6: 48,742,855 (GRCm39) I25N probably damaging Het
Hao1 A G 2: 134,343,069 (GRCm39) V274A probably benign Het
Hirip3 T C 7: 126,463,321 (GRCm39) S426P probably damaging Het
Igkv4-69 T C 6: 69,260,818 (GRCm39) D103G probably damaging Het
Kdm8 T C 7: 125,051,830 (GRCm39) V141A probably benign Het
Mink1 G T 11: 70,498,261 (GRCm39) A553S probably benign Het
Mpl T A 4: 118,314,317 (GRCm39) Y60F probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo5a C A 9: 75,067,772 (GRCm39) R609S probably benign Het
Myo5b A T 18: 74,841,026 (GRCm39) H969L probably benign Het
Or1n2 T A 2: 36,797,834 (GRCm39) I292N probably damaging Het
Or2h2c G C 17: 37,422,098 (GRCm39) Q259E probably damaging Het
Or2y16 T C 11: 49,335,068 (GRCm39) L130P probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Prodh2 T A 7: 30,205,925 (GRCm39) W207R probably damaging Het
Qng1 T C 13: 58,532,910 (GRCm39) D20G probably damaging Het
Rfx6 A G 10: 51,596,087 (GRCm39) K457E probably damaging Het
Soat2 T C 15: 102,069,049 (GRCm39) F358S probably damaging Het
Tes3-ps A G 13: 49,647,195 (GRCm39) K24E probably benign Het
Txndc16 A G 14: 45,400,497 (GRCm39) F335L possibly damaging Het
Unc45b T C 11: 82,813,738 (GRCm39) Y382H probably benign Het
Vmn2r60 A G 7: 41,785,087 (GRCm39) T100A probably null Het
Vmn2r93 T A 17: 18,525,450 (GRCm39) H369Q probably benign Het
Yy1 A G 12: 108,772,518 (GRCm39) I265V probably benign Het
Zfp54 A T 17: 21,654,239 (GRCm39) K244N probably 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
R0128:Sim1 UTSW 10 50,784,057 (GRCm39) missense probably damaging 1.00
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
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'- ACCCATGAGTGAGGTTTATCTTC -3'
(R):5'- TGTTGATAGTTTGCAAAACAGAGGG -3'

Sequencing Primer
(F):5'- TGTTATCTGCAGTTAAAACCCATTG -3'
(R):5'- TAATCATCTGCTGGGTGG -3'
Posted On 2018-10-18