Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01142:Sim1'

52159

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01142

Quality Score

Status

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50786767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 333 (T333K)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020071]

AlphaFold

Q61045

Predicted Effect

probably damaging
Transcript: ENSMUST00000020071
AA Change: T333K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: T333K

Domain	Start	End	E-Value	Type
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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	C	T	2: 19,302,709 (GRCm39)		probably benign	Het
Cacnb3	T	A	15: 98,539,883 (GRCm39)	L269*	probably null	Het
Calu	T	C	6: 29,366,207 (GRCm39)		probably null	Het
Cep97	A	G	16: 55,742,561 (GRCm39)	S129P	probably damaging	Het
Cpt1b	T	C	15: 89,303,196 (GRCm39)	M620V	probably benign	Het
Dnah7b	T	C	1: 46,234,538 (GRCm39)		probably null	Het
Evi5	T	C	5: 107,963,477 (GRCm39)	K410R	probably benign	Het
Gad2	T	C	2: 22,571,297 (GRCm39)		probably benign	Het
Helb	A	T	10: 119,947,049 (GRCm39)	V88D	probably damaging	Het
Hexim2	A	G	11: 103,024,960 (GRCm39)	E19G	probably benign	Het
Klhl25	T	C	7: 75,516,344 (GRCm39)	Y112H	probably damaging	Het
Lin52	T	C	12: 84,503,009 (GRCm39)		probably benign	Het
Ms4a4c	A	G	19: 11,403,614 (GRCm39)	T157A	probably benign	Het
Or12e8	T	C	2: 87,187,889 (GRCm39)	F34L	possibly damaging	Het
Or7g17	A	G	9: 18,768,830 (GRCm39)	N303S	probably damaging	Het
Plxnb1	A	G	9: 108,931,765 (GRCm39)	T472A	probably benign	Het
Sez6	T	G	11: 77,864,642 (GRCm39)	V534G	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem115	A	G	9: 107,411,844 (GRCm39)	N56S	possibly damaging	Het
Ubac1	T	C	2: 25,896,580 (GRCm39)	I150V	probably damaging	Het
Vps13a	T	C	19: 16,664,479 (GRCm39)	K1455E	possibly damaging	Het
Yrdc	T	C	4: 124,747,787 (GRCm39)	F97L	probably damaging	Het

Other mutations in Sim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Sim1	APN	10	50,857,630 (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
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

Posted On

2013-06-21