Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Sim1'

366510

Institutional Source

Beutler Lab

Gene Symbol

Sim1

Ensembl Gene

ENSMUSG00000019913

Gene Name

single-minded family bHLH transcription factor 1

Synonyms

bHLHe14

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50859881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 581 (L581S)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

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

AlphaFold

Q61045

Predicted Effect

probably benign
Transcript: ENSMUST00000020071
AA Change: L581S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: L581S

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

0.1499

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,834,682 (GRCm39)	L636Q	probably damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Hsf4	G	A	8: 106,001,384 (GRCm39)		probably null	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,057,921 (GRCm39)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Myo5b	A	T	18: 74,877,752 (GRCm39)	T1584S	possibly damaging	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Skor1	T	C	9: 63,051,741 (GRCm39)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	probably damaging	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
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
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'- GATGTAGGTCGAGGTCACTG -3'
(R):5'- TATCCGAGACAGTGCAGTGG -3'

Sequencing Primer
(F):5'- CACTGGGATGAAGATAGTGTGGTC -3'
(R):5'- CATGAGGGCTGAGCATCTTTCC -3'

Posted On

2015-12-21