Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Sim2'

478900

Institutional Source

Beutler Lab

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 #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94084931-94127032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94097251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 115 (S115P)

Ref Sequence

ENSEMBL: ENSMUSP00000156302 (fasta)

Gene Model

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

AlphaFold

Q61079

Predicted Effect

probably damaging
Transcript: ENSMUST00000072182
AA Change: S115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: S115P

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 damaging
Transcript: ENSMUST00000231688
AA Change: S115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,145,613 (GRCm38)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,842,025 (GRCm38)	L41*	probably null	Het
Actn1	C	A	12: 80,174,455 (GRCm38)		probably null	Het
Adamts15	G	T	9: 30,902,062 (GRCm38)	R936S	probably benign	Het
Angel2	T	C	1: 190,932,871 (GRCm38)	S22P	probably benign	Het
Ank2	T	G	3: 126,946,821 (GRCm38)		probably benign	Het
Astn1	A	G	1: 158,509,993 (GRCm38)	D423G	probably damaging	Het
Casp9	A	G	4: 141,796,538 (GRCm38)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,487,853 (GRCm38)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,996,581 (GRCm38)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,331,326 (GRCm38)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,609,875 (GRCm38)	W335R	probably benign	Het
Ddr2	T	A	1: 170,005,102 (GRCm38)	I130F	probably benign	Het
Dnah2	C	T	11: 69,500,839 (GRCm38)	A677T	probably benign	Het
Dzip3	C	A	16: 48,951,842 (GRCm38)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,222,013 (GRCm38)	I637S	probably damaging	Het
Etv3	A	G	3: 87,529,364 (GRCm38)	D142G	probably benign	Het
Fabp5	C	T	3: 10,016,089 (GRCm38)	T126I	probably benign	Het
Fam13b	A	C	18: 34,494,774 (GRCm38)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,992,127 (GRCm38)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,756,668 (GRCm38)	F199S	possibly damaging	Het
Gm340	G	A	19: 41,583,547 (GRCm38)	G247D	possibly damaging	Het
Gm5493	A	G	17: 22,748,061 (GRCm38)	K57E	probably benign	Het
Gm7334	A	G	17: 50,699,237 (GRCm38)	M184V	probably benign	Het
Gm9894	T	C	13: 67,763,835 (GRCm38)		noncoding transcript	Het
Gpd2	T	A	2: 57,364,513 (GRCm38)	N674K	probably benign	Het
H2-M10.6	A	G	17: 36,813,067 (GRCm38)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,884,327 (GRCm38)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,138,292 (GRCm38)	T57A	probably benign	Het
Hrg	A	T	16: 22,954,518 (GRCm38)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 94,033,977 (GRCm38)	T262A	probably damaging	Het
Irak3	G	T	10: 120,143,137 (GRCm38)	P470T	probably damaging	Het
Itgbl1	A	T	14: 123,846,565 (GRCm38)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,864 (GRCm38)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,388,386 (GRCm38)	M1157K	probably damaging	Het
Mdc1	G	A	17: 35,848,633 (GRCm38)	G635D	probably benign	Het
Mdc1	A	G	17: 35,857,572 (GRCm38)	K1690R	probably benign	Het
Mpp3	A	T	11: 102,018,539 (GRCm38)		probably benign	Het
Ncor2	G	T	5: 125,020,011 (GRCm38)	H2285N	probably benign	Het
Neb	T	A	2: 52,257,827 (GRCm38)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,581,567 (GRCm38)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,725 (GRCm38)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,253,372 (GRCm38)	Q191P	probably damaging	Het
Or14j10	A	T	17: 37,623,967 (GRCm38)	S223T	possibly damaging	Het
Or1e30	C	T	11: 73,787,552 (GRCm38)	L205F	probably benign	Het
Or51ag1	T	A	7: 103,506,799 (GRCm38)	H49L	probably benign	Het
Patl1	T	G	19: 11,937,354 (GRCm38)	L623R	probably damaging	Het
Pdc	T	C	1: 150,333,366 (GRCm38)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,868,426 (GRCm38)	D370G	probably benign	Het
Pglyrp3	A	T	3: 92,031,534 (GRCm38)	I339F	probably damaging	Het
Plxnb1	T	C	9: 109,116,611 (GRCm38)	V2070A	probably damaging	Het
Poln	G	A	5: 34,109,431 (GRCm38)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,383,508 (GRCm38)	V218L	probably damaging	Het
Pygl	T	C	12: 70,216,654 (GRCm38)	D55G	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
RP24-351P7.8	T	C	7: 11,610,301 (GRCm38)	F62S	probably damaging	Het
Rsrp1	T	C	4: 134,924,381 (GRCm38)	F152S	probably damaging	Het
Slc17a1	T	A	13: 23,875,610 (GRCm38)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,325,658 (GRCm38)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,616,142 (GRCm38)	N69K	probably benign	Het
Slc51a	T	G	16: 32,479,766 (GRCm38)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,224,112 (GRCm38)	H448R	probably benign	Het
Smc3	G	A	19: 53,625,163 (GRCm38)		probably null	Het
Sox6	A	T	7: 115,486,628 (GRCm38)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,693,715 (GRCm38)		probably null	Het
Tsr1	C	T	11: 74,900,293 (GRCm38)		probably null	Het
Ttc12	T	C	9: 49,443,122 (GRCm38)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,368,311 (GRCm38)	V386E	probably benign	Het
Ush2a	T	A	1: 188,728,096 (GRCm38)		probably null	Het
Usp5	C	A	6: 124,817,613 (GRCm38)		probably benign	Het
Vmn1r216	T	C	13: 23,099,935 (GRCm38)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,418,149 (GRCm38)	L606*	probably null	Het
Wee2	T	A	6: 40,449,620 (GRCm38)		probably null	Het
Zfhx3	T	C	8: 108,792,527 (GRCm38)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,632,768 (GRCm38)	P120L	probably benign	Het

Other mutations in Sim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sim2	APN	16	94,114,944 (GRCm38)	nonsense	probably null
IGL01329:Sim2	APN	16	94,106,260 (GRCm38)	missense	possibly damaging	0.64
IGL01965:Sim2	APN	16	94,121,178 (GRCm38)	missense	probably benign	0.20
IGL01979:Sim2	APN	16	94,123,482 (GRCm38)	missense	possibly damaging	0.81
IGL02821:Sim2	APN	16	94,097,188 (GRCm38)	missense	probably damaging	1.00
IGL03027:Sim2	APN	16	94,109,492 (GRCm38)	splice site	probably benign
P0027:Sim2	UTSW	16	94,109,422 (GRCm38)	missense	probably benign	0.02
PIT4696001:Sim2	UTSW	16	94,094,309 (GRCm38)	missense	possibly damaging	0.49
R1836:Sim2	UTSW	16	94,123,577 (GRCm38)	critical splice donor site	probably null
R2034:Sim2	UTSW	16	94,085,942 (GRCm38)	missense	probably damaging	0.96
R4085:Sim2	UTSW	16	94,109,354 (GRCm38)	missense	possibly damaging	0.48
R4475:Sim2	UTSW	16	94,125,791 (GRCm38)	missense	probably benign
R4476:Sim2	UTSW	16	94,125,791 (GRCm38)	missense	probably benign
R4647:Sim2	UTSW	16	94,123,526 (GRCm38)	missense	possibly damaging	0.71
R4919:Sim2	UTSW	16	94,109,335 (GRCm38)	missense	probably benign	0.01
R4966:Sim2	UTSW	16	94,123,421 (GRCm38)	missense	probably benign	0.03
R5320:Sim2	UTSW	16	94,104,739 (GRCm38)	missense	probably benign	0.01
R5555:Sim2	UTSW	16	94,109,456 (GRCm38)	missense	probably damaging	1.00
R5591:Sim2	UTSW	16	94,097,189 (GRCm38)	missense	probably damaging	1.00
R5870:Sim2	UTSW	16	94,123,334 (GRCm38)	missense	probably damaging	0.99
R6302:Sim2	UTSW	16	94,097,230 (GRCm38)	missense	probably damaging	1.00
R6883:Sim2	UTSW	16	94,125,536 (GRCm38)	missense	probably benign	0.00
R7170:Sim2	UTSW	16	94,122,700 (GRCm38)	missense	probably benign	0.00
R7559:Sim2	UTSW	16	94,109,359 (GRCm38)	missense	possibly damaging	0.95
R7740:Sim2	UTSW	16	94,114,960 (GRCm38)	missense	probably benign	0.25
R8114:Sim2	UTSW	16	94,122,644 (GRCm38)	missense	probably benign	0.00
R8244:Sim2	UTSW	16	94,109,363 (GRCm38)	missense	probably damaging	0.99
R8682:Sim2	UTSW	16	94,123,333 (GRCm38)	missense	probably benign	0.23
T0722:Sim2	UTSW	16	94,109,422 (GRCm38)	missense	probably benign	0.02
X0063:Sim2	UTSW	16	94,122,698 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCACACATAAAGTTTTGCCTCAG -3'
(R):5'- TCTTGGAACAGAGCTGACCG -3'

Sequencing Primer
(F):5'- CCCCAGGCATGCTAAGC -3'
(R):5'- GCTGAGACGTACTGACATTAACCTC -3'

Posted On

2017-06-26