Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Sim2'

556816

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 #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93885963-93927891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93895168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

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: D62G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: D62G

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: D62G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,384,209 (GRCm39)		probably null	Het
Adam20	T	A	8: 41,247,985 (GRCm39)	Y32N	probably benign	Het
Adm	T	C	7: 110,227,496 (GRCm39)	V4A	probably benign	Het
Anpep	G	A	7: 79,489,212 (GRCm39)	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,672,341 (GRCm39)	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,396,069 (GRCm39)	M12K	possibly damaging	Het
Cad	T	C	5: 31,229,438 (GRCm39)	L1435P	probably damaging	Het
Cat	T	C	2: 103,302,157 (GRCm39)	D180G	probably damaging	Het
Cntln	C	T	4: 84,892,237 (GRCm39)	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,540,404 (GRCm39)	R339Q	probably benign	Het
Defa22	T	C	8: 21,652,352 (GRCm39)	L6P	probably damaging	Het
Dr1	T	A	5: 108,417,604 (GRCm39)	I50K	probably damaging	Het
Eln	C	T	5: 134,766,032 (GRCm39)	G57E	unknown	Het
Fat4	T	C	3: 38,943,153 (GRCm39)	I682T	probably benign	Het
Fat4	C	A	3: 39,036,506 (GRCm39)	A3386E	probably damaging	Het
Fcgr3	T	A	1: 170,885,319 (GRCm39)	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,573,993 (GRCm39)	L115M	probably damaging	Het
Herc1	T	A	9: 66,386,291 (GRCm39)	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,125,145 (GRCm39)	S106P	probably benign	Het
Kcns3	C	T	12: 11,142,749 (GRCm39)		probably benign	Het
Kndc1	T	A	7: 139,512,830 (GRCm39)	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,637,180 (GRCm39)	S690A	probably benign	Het
Lrfn5	T	C	12: 61,890,343 (GRCm39)	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,509,861 (GRCm39)	H450Q	probably damaging	Het
Mdm1	A	G	10: 117,994,445 (GRCm39)	T485A	probably benign	Het
Megf10	T	C	18: 57,410,760 (GRCm39)	C690R	probably damaging	Het
Myo7a	A	G	7: 97,712,806 (GRCm39)	M1723T	probably benign	Het
Nrip3	A	T	7: 109,364,714 (GRCm39)	C137*	probably null	Het
Or5w22	T	A	2: 87,363,124 (GRCm39)	I249N	probably damaging	Het
Pde4a	T	A	9: 21,122,297 (GRCm39)	M731K	probably benign	Het
Pebp1	A	G	5: 117,421,527 (GRCm39)	L117P	probably damaging	Het
Phc2	T	C	4: 128,598,995 (GRCm39)	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,284,713 (GRCm39)	F50S	probably benign	Het
Prpf4b	A	G	13: 35,083,825 (GRCm39)	S865G	probably benign	Het
Ptpn5	C	T	7: 46,738,354 (GRCm39)	V243M	probably benign	Het
Rora	T	C	9: 69,271,841 (GRCm39)	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,432,204 (GRCm39)	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,063,985 (GRCm39)	G95D	probably benign	Het
Sec24b	A	G	3: 129,788,040 (GRCm39)	V820A	probably benign	Het
Slc17a4	A	T	13: 24,084,497 (GRCm39)	V429D	probably benign	Het
Sp2	T	C	11: 96,852,799 (GRCm39)	T42A	probably damaging	Het
Spata3	G	A	1: 85,952,169 (GRCm39)	R141Q	unknown	Het
Sptbn2	A	T	19: 4,795,605 (GRCm39)	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,655,473 (GRCm39)	H501R	probably benign	Het
Tec	G	A	5: 72,931,178 (GRCm39)	T262M	possibly damaging	Het
Timm9	A	T	12: 71,172,305 (GRCm39)	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701 (GRCm39)		probably null	Het
Tmbim4	A	G	10: 120,053,529 (GRCm39)	I109M	probably benign	Het
Tmc7	T	C	7: 118,163,566 (GRCm39)	K110E	probably benign	Het
Tmem107	C	T	11: 68,963,399 (GRCm39)	P136L	probably benign	Het
Ttc21b	T	C	2: 66,061,563 (GRCm39)		probably null	Het
Ubd	A	C	17: 37,506,335 (GRCm39)	T74P	probably damaging	Het
Vps11	A	G	9: 44,269,486 (GRCm39)	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,376,448 (GRCm39)	T146A	probably benign	Het
Wdr38	G	T	2: 38,889,984 (GRCm39)		probably null	Het
Yes1	T	A	5: 32,841,969 (GRCm39)	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,569,323 (GRCm39)	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,635,949 (GRCm39)	V126A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAATTATGGGTCGGGAG -3'
(R):5'- TTAAAGATTCATGCCTGGGTCC -3'

Sequencing Primer
(F):5'- GGATTAAAGGCATGCTATACCTCCG -3'
(R):5'- TTTTTGGACCAGAGGCACC -3'

Posted On

2019-06-07