Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Sim2'

3942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sim2

Ensembl Gene

ENSMUSG00000062713

Gene Name

single-minded family bHLH transcription factor 2

Synonyms

bHLHe15

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

93885963-93927891 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 93915803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 255 (Y255*)

Ref Sequence

ENSEMBL: ENSMUSP00000156302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072182] [ENSMUST00000231688]

AlphaFold

Q61079

Predicted Effect

probably null
Transcript: ENSMUST00000072182
AA Change: Y255*

SMART Domains

Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: Y255*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000231688
AA Change: Y255*

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Sim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Sim2	APN	16	93,907,119 (GRCm39)	missense	possibly damaging	0.64
IGL01965:Sim2	APN	16	93,922,037 (GRCm39)	missense	probably benign	0.20
IGL01979:Sim2	APN	16	93,924,341 (GRCm39)	missense	possibly damaging	0.81
IGL02821:Sim2	APN	16	93,898,047 (GRCm39)	missense	probably damaging	1.00
IGL03027:Sim2	APN	16	93,910,351 (GRCm39)	splice site	probably benign
P0027:Sim2	UTSW	16	93,910,281 (GRCm39)	missense	probably benign	0.02
PIT4696001:Sim2	UTSW	16	93,895,168 (GRCm39)	missense	possibly damaging	0.49
R1836:Sim2	UTSW	16	93,924,436 (GRCm39)	critical splice donor site	probably null
R2034:Sim2	UTSW	16	93,886,801 (GRCm39)	missense	probably damaging	0.96
R4085:Sim2	UTSW	16	93,910,213 (GRCm39)	missense	possibly damaging	0.48
R4475:Sim2	UTSW	16	93,926,650 (GRCm39)	missense	probably benign
R4476:Sim2	UTSW	16	93,926,650 (GRCm39)	missense	probably benign
R4647:Sim2	UTSW	16	93,924,385 (GRCm39)	missense	possibly damaging	0.71
R4919:Sim2	UTSW	16	93,910,194 (GRCm39)	missense	probably benign	0.01
R4966:Sim2	UTSW	16	93,924,280 (GRCm39)	missense	probably benign	0.03
R5320:Sim2	UTSW	16	93,905,598 (GRCm39)	missense	probably benign	0.01
R5555:Sim2	UTSW	16	93,910,315 (GRCm39)	missense	probably damaging	1.00
R5591:Sim2	UTSW	16	93,898,048 (GRCm39)	missense	probably damaging	1.00
R5870:Sim2	UTSW	16	93,924,193 (GRCm39)	missense	probably damaging	0.99
R6020:Sim2	UTSW	16	93,898,110 (GRCm39)	missense	probably damaging	1.00
R6302:Sim2	UTSW	16	93,898,089 (GRCm39)	missense	probably damaging	1.00
R6883:Sim2	UTSW	16	93,926,395 (GRCm39)	missense	probably benign	0.00
R7170:Sim2	UTSW	16	93,923,559 (GRCm39)	missense	probably benign	0.00
R7559:Sim2	UTSW	16	93,910,218 (GRCm39)	missense	possibly damaging	0.95
R7740:Sim2	UTSW	16	93,915,819 (GRCm39)	missense	probably benign	0.25
R8114:Sim2	UTSW	16	93,923,503 (GRCm39)	missense	probably benign	0.00
R8244:Sim2	UTSW	16	93,910,222 (GRCm39)	missense	probably damaging	0.99
R8682:Sim2	UTSW	16	93,924,192 (GRCm39)	missense	probably benign	0.23
T0722:Sim2	UTSW	16	93,910,281 (GRCm39)	missense	probably benign	0.02
X0063:Sim2	UTSW	16	93,923,557 (GRCm39)	missense	possibly damaging	0.89

Posted On

2012-04-20