Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Sim1'

101519

Institutional Source

Beutler Lab

Gene Symbol

Sim1

Ensembl Gene

ENSMUSG00000019913

Gene Name

single-minded family bHLH transcription factor 1

Synonyms

bHLHe14

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50857618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 456 (V456E)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020071]

AlphaFold

Q61045

Predicted Effect

probably benign
Transcript: ENSMUST00000020071
AA Change: V456E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: V456E

Domain	Start	End	E-Value	Type
HLH	6	59	8.73e-6	SMART
PAS	79	145	7.39e-14	SMART
PAS	220	286	5.61e-5	SMART
PAC	292	335	4.63e-6	SMART
Pfam:SIM_C	359	668	2.5e-114	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with abnormalities in the paraventricular and supraoptic nuclei. Heterozygous mutant mice are obese and may also be diabetic, hyperinsulinemic and insulin resistant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	probably benign	Het

Other mutations in Sim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Sim1	APN	10	50,857,630 (GRCm39)	missense	probably damaging	0.99
IGL01142:Sim1	APN	10	50,786,767 (GRCm39)	missense	probably damaging	0.99
IGL01886:Sim1	APN	10	50,860,411 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Sim1	UTSW	10	50,860,284 (GRCm39)	nonsense	probably null
R0128:Sim1	UTSW	10	50,784,057 (GRCm39)	missense	probably damaging	1.00
R0130:Sim1	UTSW	10	50,784,057 (GRCm39)	missense	probably damaging	1.00
R0717:Sim1	UTSW	10	50,785,924 (GRCm39)	missense	probably damaging	1.00
R0948:Sim1	UTSW	10	50,857,423 (GRCm39)	nonsense	probably null
R1388:Sim1	UTSW	10	50,772,090 (GRCm39)	missense	probably damaging	1.00
R1746:Sim1	UTSW	10	50,860,205 (GRCm39)	missense	probably benign
R1778:Sim1	UTSW	10	50,857,649 (GRCm39)	nonsense	probably null
R1834:Sim1	UTSW	10	50,785,924 (GRCm39)	missense	probably damaging	1.00
R2434:Sim1	UTSW	10	50,784,054 (GRCm39)	missense	probably damaging	1.00
R2919:Sim1	UTSW	10	50,785,911 (GRCm39)	missense	probably benign	0.23
R3617:Sim1	UTSW	10	50,785,624 (GRCm39)	missense	probably damaging	1.00
R3625:Sim1	UTSW	10	50,857,432 (GRCm39)	missense	probably benign	0.30
R4152:Sim1	UTSW	10	50,859,950 (GRCm39)	missense	probably damaging	0.98
R4414:Sim1	UTSW	10	50,857,708 (GRCm39)	missense	probably benign	0.13
R4645:Sim1	UTSW	10	50,860,093 (GRCm39)	missense	probably benign	0.13
R4781:Sim1	UTSW	10	50,859,881 (GRCm39)	missense	probably benign	0.08
R4889:Sim1	UTSW	10	50,857,420 (GRCm39)	missense	probably benign	0.05
R4924:Sim1	UTSW	10	50,785,998 (GRCm39)	missense	probably damaging	1.00
R6625:Sim1	UTSW	10	50,860,082 (GRCm39)	missense	probably benign
R6783:Sim1	UTSW	10	50,784,823 (GRCm39)	missense	possibly damaging	0.72
R6876:Sim1	UTSW	10	50,859,791 (GRCm39)	missense	possibly damaging	0.77
R6909:Sim1	UTSW	10	50,785,506 (GRCm39)	missense	possibly damaging	0.92
R6924:Sim1	UTSW	10	50,784,635 (GRCm39)	missense	probably benign	0.10
R7016:Sim1	UTSW	10	50,860,346 (GRCm39)	missense	probably benign	0.03
R7135:Sim1	UTSW	10	50,772,023 (GRCm39)	missense	probably damaging	0.99
R7149:Sim1	UTSW	10	50,785,636 (GRCm39)	missense	probably damaging	1.00
R7300:Sim1	UTSW	10	50,785,614 (GRCm39)	missense	probably benign	0.23
R7750:Sim1	UTSW	10	50,772,131 (GRCm39)	missense	possibly damaging	0.94
R7973:Sim1	UTSW	10	50,857,419 (GRCm39)	missense	probably damaging	1.00
R8087:Sim1	UTSW	10	50,785,651 (GRCm39)	missense	possibly damaging	0.95
R8670:Sim1	UTSW	10	50,784,849 (GRCm39)	missense	probably damaging	1.00
R8782:Sim1	UTSW	10	50,772,165 (GRCm39)	missense	probably benign	0.11
R8894:Sim1	UTSW	10	50,786,626 (GRCm39)	missense	possibly damaging	0.96
R9000:Sim1	UTSW	10	50,860,317 (GRCm39)	missense	possibly damaging	0.79
R9000:Sim1	UTSW	10	50,860,316 (GRCm39)	missense	probably benign	0.31
R9103:Sim1	UTSW	10	50,785,525 (GRCm39)	missense	possibly damaging	0.91
R9153:Sim1	UTSW	10	50,772,029 (GRCm39)	missense	probably damaging	1.00
R9163:Sim1	UTSW	10	50,772,165 (GRCm39)	missense	probably benign	0.11
R9279:Sim1	UTSW	10	50,859,796 (GRCm39)	missense	probably damaging	1.00
Z1177:Sim1	UTSW	10	50,860,424 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

Posted On

2014-01-15