Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Sim1'

197254

Institutional Source

Beutler Lab

Gene Symbol

Sim1

Ensembl Gene

ENSMUSG00000019913

Gene Name

single-minded family bHLH transcription factor 1

Synonyms

bHLHe14

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 50857649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 466 (C466*)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

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

AlphaFold

Q61045

Predicted Effect

probably null
Transcript: ENSMUST00000020071
AA Change: C466*

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: C466*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	C	7: 29,260,131 (GRCm39)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,244,995 (GRCm39)	M119T	probably damaging	Het
Aadacl2	A	G	3: 59,924,871 (GRCm39)		probably null	Het
Abca9	C	T	11: 110,021,542 (GRCm39)	W1056*	probably null	Het
Adam20	A	C	8: 41,249,698 (GRCm39)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 84,656,666 (GRCm39)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,904,638 (GRCm39)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,580,580 (GRCm39)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,602,333 (GRCm39)	E89G	probably benign	Het
Aldh16a1	G	A	7: 44,796,732 (GRCm39)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,372,443 (GRCm39)	K210E	probably benign	Het
Baz2b	T	C	2: 59,836,480 (GRCm39)	T18A	unknown	Het
Bub1	A	C	2: 127,645,042 (GRCm39)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,731,272 (GRCm39)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,741,239 (GRCm39)	P77Q	possibly damaging	Het
Cfap410	G	T	10: 77,818,778 (GRCm39)	A150S	probably benign	Het
Chga	T	A	12: 102,527,959 (GRCm39)	M150K	probably benign	Het
Chmp3	A	G	6: 71,554,791 (GRCm39)	E162G	probably benign	Het
Clip3	A	G	7: 29,996,861 (GRCm39)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,511,867 (GRCm39)		probably benign	Het
Cuedc2	C	T	19: 46,320,079 (GRCm39)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,087,627 (GRCm39)	F428V	probably damaging	Het
Ddx60	A	G	8: 62,427,210 (GRCm39)	I762V	possibly damaging	Het
Def6	G	A	17: 28,439,160 (GRCm39)	R257Q	probably benign	Het
Dkkl1	A	T	7: 44,860,819 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,677,625 (GRCm39)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm39)	R33C	probably benign	Het
Elavl2	T	A	4: 91,141,715 (GRCm39)	Y269F	probably damaging	Het
Esco2	A	G	14: 66,068,711 (GRCm39)	S200P	possibly damaging	Het
Fcrl1	T	A	3: 87,292,626 (GRCm39)		probably benign	Het
Fhod1	C	A	8: 106,056,309 (GRCm39)	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,383,796 (GRCm39)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,410,907 (GRCm39)		probably null	Het
Fpr-rs7	T	C	17: 20,334,277 (GRCm39)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,797,844 (GRCm39)		probably benign	Het
Gm4841	A	T	18: 60,404,020 (GRCm39)	Y24*	probably null	Het
Greb1	G	A	12: 16,740,895 (GRCm39)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,800,590 (GRCm39)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,152,806 (GRCm39)		probably benign	Het
Ice2	T	C	9: 69,322,930 (GRCm39)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,571,593 (GRCm39)	Q288L	probably damaging	Het
Ift56	T	A	6: 38,386,411 (GRCm39)	D377E	possibly damaging	Het
Ik	T	C	18: 36,889,871 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,063,445 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,577,972 (GRCm39)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,697,362 (GRCm39)	T87A	probably damaging	Het
Lama5	G	A	2: 179,837,274 (GRCm39)		probably benign	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,374,682 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,845,944 (GRCm39)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,809,908 (GRCm39)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,111,823 (GRCm39)	D565G	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Msrb2	T	A	2: 19,388,114 (GRCm39)	D87E	probably benign	Het
Muc20	T	C	16: 32,614,511 (GRCm39)	T289A	possibly damaging	Het
Myo15a	C	A	11: 60,369,238 (GRCm39)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 108,088,421 (GRCm39)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,348,972 (GRCm39)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,210,738 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,096,793 (GRCm39)	E1334G	probably damaging	Het
Odad2	A	T	18: 7,127,388 (GRCm39)	C942S	probably damaging	Het
Or52e8b	A	T	7: 104,673,370 (GRCm39)	N272K	probably benign	Het
Or5an1c	T	A	19: 12,218,819 (GRCm39)	I69F	probably benign	Het
Or6c6c	T	C	10: 129,541,574 (GRCm39)	Y276H	probably benign	Het
Or9s13	G	A	1: 92,548,342 (GRCm39)	G238E	possibly damaging	Het
Or9s14	A	T	1: 92,535,831 (GRCm39)	N91Y	possibly damaging	Het
P4ha3	A	T	7: 99,949,898 (GRCm39)		probably null	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,710,083 (GRCm39)	Y411N	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Phrf1	T	A	7: 140,812,369 (GRCm39)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,778,196 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,769,234 (GRCm39)		probably benign	Het
Plxna2	A	G	1: 194,493,278 (GRCm39)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,843,254 (GRCm39)	T183I	probably damaging	Het
Prxl2b	A	T	4: 154,981,814 (GRCm39)	V151D	probably damaging	Het
Ptger4	A	T	15: 5,264,576 (GRCm39)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm39)		probably benign	Het
Rdh7	A	G	10: 127,720,590 (GRCm39)	S261P	probably benign	Het
Reg3a	A	G	6: 78,360,269 (GRCm39)	T150A	probably benign	Het
Rnf111	A	G	9: 70,383,394 (GRCm39)	S180P	probably benign	Het
Rnf17	A	G	14: 56,759,856 (GRCm39)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,085,873 (GRCm39)	Y117*	probably null	Het
Rnps1-ps	A	T	6: 7,983,124 (GRCm39)		noncoding transcript	Het
Rogdi	T	C	16: 4,828,369 (GRCm39)	T165A	probably benign	Het
Rpe65	A	G	3: 159,328,485 (GRCm39)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,494,405 (GRCm39)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm39)	E257D	probably benign	Het
Spi1	T	A	2: 90,929,867 (GRCm39)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,873,909 (GRCm39)		probably benign	Het
Tbcb	A	G	7: 29,931,037 (GRCm39)	Y28H	probably benign	Het
Tecta	C	T	9: 42,254,927 (GRCm39)	C1752Y	probably damaging	Het
Tep1	T	C	14: 51,067,079 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm39)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Trappc14	T	C	5: 138,260,739 (GRCm39)		probably null	Het
Trim13	G	T	14: 61,843,068 (GRCm39)	A362S	probably benign	Het
Trim47	T	A	11: 116,000,646 (GRCm39)	D134V	probably damaging	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,775,415 (GRCm39)	A222S	possibly damaging	Het
Wdr17	A	G	8: 55,143,249 (GRCm39)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm39)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,751,785 (GRCm39)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,521,788 (GRCm39)	K419R	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
R1169:Sim1	UTSW	10	50,857,618 (GRCm39)	missense	probably benign	0.13
R1388:Sim1	UTSW	10	50,772,090 (GRCm39)	missense	probably damaging	1.00
R1746:Sim1	UTSW	10	50,860,205 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- GATCGGAATCTGACCATGACAGCC -3'
(R):5'- ATTTTACAGCCTCCTGCTGGGAATC -3'

Sequencing Primer
(F):5'- ACCATGACAGCCAGTGGG -3'
(R):5'- CTGGGAATCTAGTGACCTTCAAGC -3'

Posted On

2014-05-23