Mutagenetix > Incidental Mutation

Incidental Mutation 'R4085:Sim2'

317108

Institutional Source

Beutler Lab

Gene Symbol

Sim2

Ensembl Gene

ENSMUSG00000062713

Gene Name

single-minded family bHLH transcription factor 2

Synonyms

bHLHe15

MMRRC Submission

040979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93885963-93927891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93910213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 205 (Y205C)

Ref Sequence

ENSEMBL: ENSMUSP00000072043 (fasta)

Gene Model

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

AlphaFold

Q61079

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072182
AA Change: Y205C

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: Y205C

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 benign
Transcript: ENSMUST00000231688
AA Change: Y205C

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1961

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abca15	T	C	7: 119,981,949 (GRCm39)	V1088A	probably damaging	Het
Adgrl3	A	G	5: 81,660,391 (GRCm39)	I319V	probably benign	Het
Atraid	A	T	5: 31,209,650 (GRCm39)		probably benign	Het
Aurkaip1	A	T	4: 155,917,362 (GRCm39)	K172N	probably benign	Het
Bicd2	T	A	13: 49,538,438 (GRCm39)		probably null	Het
Ccr1	C	T	9: 123,763,987 (GRCm39)	R181H	probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	C	A	1: 82,448,909 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,203,618 (GRCm39)	V451A	probably benign	Het
Dcc	T	A	18: 71,959,240 (GRCm39)	Q177H	probably benign	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dynlrb1	G	T	2: 155,091,896 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,045,898 (GRCm39)	L592Q	possibly damaging	Het
Fam20b	T	C	1: 156,533,445 (GRCm39)	D57G	probably benign	Het
Fbxo33	A	G	12: 59,247,591 (GRCm39)		probably benign	Het
Fndc4	A	G	5: 31,451,121 (GRCm39)	I190T	probably damaging	Het
Gad1	G	T	2: 70,420,192 (GRCm39)	A359S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm43517	A	G	12: 49,437,897 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,821,533 (GRCm39)	V1052D	possibly damaging	Het
Herc6	G	A	6: 57,624,054 (GRCm39)	C608Y	probably benign	Het
Itpr2	T	A	6: 146,045,746 (GRCm39)	D2573V	probably damaging	Het
Kank2	A	G	9: 21,706,415 (GRCm39)	L201P	probably damaging	Het
Kdm1a	A	C	4: 136,279,273 (GRCm39)	Y762*	probably null	Het
Mef2c	C	T	13: 83,723,821 (GRCm39)	T9M	probably damaging	Het
Ndst4	A	G	3: 125,403,131 (GRCm39)	I413V	probably benign	Het
Nlrp1b	T	C	11: 71,052,588 (GRCm39)	T947A	probably damaging	Het
Nlrp5	C	A	7: 23,129,523 (GRCm39)	N863K	probably damaging	Het
Opn1sw	A	G	6: 29,380,143 (GRCm39)	I91T	possibly damaging	Het
Or2y13	T	C	11: 49,414,955 (GRCm39)	I135T	probably benign	Het
Pmfbp1	A	G	8: 110,221,579 (GRCm39)	K15E	possibly damaging	Het
Ppp3cb	A	G	14: 20,558,611 (GRCm39)	C484R	possibly damaging	Het
Rassf2	C	A	2: 131,846,299 (GRCm39)	G153C	probably damaging	Het
Rbm15b	T	C	9: 106,762,936 (GRCm39)	N411D	possibly damaging	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Sall1	C	T	8: 89,755,137 (GRCm39)	V1281M	probably benign	Het
Sall3	A	T	18: 81,015,348 (GRCm39)	M860K	probably damaging	Het
Sik2	A	T	9: 50,846,685 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,788,019 (GRCm39)	T92I	unknown	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taok2	T	C	7: 126,473,897 (GRCm39)	E403G	possibly damaging	Het
Tedc2	A	T	17: 24,438,813 (GRCm39)	V168E	probably benign	Het
Tle6	A	G	10: 81,430,349 (GRCm39)		probably null	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Ucp1	T	C	8: 84,020,580 (GRCm39)	I130T	probably benign	Het
Urb2	A	G	8: 124,757,680 (GRCm39)	H1129R	probably benign	Het
Vmn2r111	C	T	17: 22,778,096 (GRCm39)	G528R	probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xdh	A	T	17: 74,223,874 (GRCm39)	M506K	probably benign	Het

Other mutations in Sim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sim2	APN	16	93,915,803 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTCAACAGGAACTTGGGTGAAG -3'
(R):5'- TGCTCATCTGCGACCAGTTC -3'

Sequencing Primer
(F):5'- ACTTGGGTGAAGGATGGCCTAC -3'
(R):5'- GGCTTTCTGGGCAGTCACAG -3'

Posted On

2015-05-15