Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Sim2'

224385

Institutional Source

Beutler Lab

Gene Symbol

Sim2

Ensembl Gene

ENSMUSG00000062713

Gene Name

single-minded family bHLH transcription factor 2

Synonyms

bHLHe15

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2034 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

93885963-93927891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93886801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 43 (I43L)

Ref Sequence

ENSEMBL: ENSMUSP00000072043 (fasta)

Gene Model

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

AlphaFold

Q61079

Predicted Effect

probably damaging
Transcript: ENSMUST00000072182
AA Change: I43L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: I43L

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

possibly damaging
Transcript: ENSMUST00000231688
AA Change: I43L

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231710

Meta Mutation Damage Score

0.4538

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAGAAGACGTTGGGTGC -3'
(R):5'- GATTGGATTGTCCCTCAGCC -3'

Sequencing Primer
(F):5'- ACTCACCTGACCCCTGG -3'
(R):5'- CTTAGCTTAGGCCTGGGC -3'

Posted On

2014-08-25