Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Sim1'

205068

Institutional Source

Beutler Lab

Gene Symbol

Sim1

Ensembl Gene

ENSMUSG00000019913

Gene Name

single-minded family bHLH transcription factor 1

Synonyms

bHLHe14

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50785924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 259 (D259G)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

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

AlphaFold

Q61045

Predicted Effect

probably damaging
Transcript: ENSMUST00000020071
AA Change: D259G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: D259G

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

0.7566

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,313 (GRCm39)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,504,786 (GRCm39)	S4C	unknown	Het
Abca3	A	T	17: 24,595,666 (GRCm39)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,240,981 (GRCm39)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,373,536 (GRCm39)	T1855M	probably damaging	Het
Ace	A	G	11: 105,876,920 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,153,065 (GRCm39)		probably benign	Het
Afm	T	A	5: 90,674,283 (GRCm39)	M265K	probably benign	Het
Agl	A	G	3: 116,582,000 (GRCm39)	F293S	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,424,065 (GRCm39)	S667I	probably benign	Het
Bco1	A	G	8: 117,844,176 (GRCm39)	T297A	probably benign	Het
Bmp1	T	C	14: 70,746,271 (GRCm39)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,031,623 (GRCm39)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,752,045 (GRCm39)	S845R	probably benign	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,897,242 (GRCm39)	S212P	probably benign	Het
Col10a1	G	C	10: 34,271,011 (GRCm39)	A328P	probably damaging	Het
Col4a2	A	G	8: 11,452,997 (GRCm39)	E188G	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,965 (GRCm39)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 103,998,446 (GRCm39)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,782,465 (GRCm39)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,850,323 (GRCm39)	C568Y	probably benign	Het
Dgki	C	A	6: 37,011,636 (GRCm39)		probably benign	Het
Dmrt1	A	T	19: 25,487,063 (GRCm39)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,270 (GRCm39)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,272,919 (GRCm39)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,594,930 (GRCm39)	S678A	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Ece1	A	G	4: 137,685,439 (GRCm39)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,180,530 (GRCm39)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm39)	E312G	probably damaging	Het
Eya3	T	A	4: 132,434,429 (GRCm39)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,395,552 (GRCm39)		probably benign	Het
Fem1c	C	T	18: 46,638,349 (GRCm39)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,429,718 (GRCm39)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,240,441 (GRCm39)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm10030	C	T	9: 110,833,947 (GRCm39)		noncoding transcript	Het
Gm3443	T	A	19: 21,533,043 (GRCm39)	H2Q	unknown	Het
Gm5800	T	C	14: 51,953,549 (GRCm39)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,539,905 (GRCm39)	R9L	probably damaging	Het
Gvin3	A	T	7: 106,202,983 (GRCm39)	V87D	possibly damaging	Het
Ica1l	A	G	1: 60,067,395 (GRCm39)		probably benign	Het
Ice1	G	A	13: 70,763,457 (GRCm39)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,575,172 (GRCm39)	R618S	unknown	Het
Itga2	C	A	13: 114,993,262 (GRCm39)	K784N	probably damaging	Het
Itga2	T	A	13: 114,993,263 (GRCm39)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,159,405 (GRCm39)	E402G	probably benign	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,503,517 (GRCm39)	L267I	probably damaging	Het
Map1s	A	G	8: 71,369,055 (GRCm39)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,845,901 (GRCm39)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,684,793 (GRCm39)	S16G	probably benign	Het
Nav3	T	C	10: 109,555,883 (GRCm39)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,456,197 (GRCm39)	N2417S	probably damaging	Het
Neb	T	C	2: 52,126,907 (GRCm39)	N3605S	probably damaging	Het
Net1	A	T	13: 3,962,941 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,461,164 (GRCm39)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,252,240 (GRCm39)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,318,071 (GRCm39)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or1a1	A	G	11: 74,086,479 (GRCm39)	H50R	probably benign	Het
Or2ag13	A	G	7: 106,473,348 (GRCm39)	Y35H	probably damaging	Het
Or5ae2	A	G	7: 84,505,690 (GRCm39)	T38A	probably damaging	Het
Or9k2b	A	G	10: 130,016,701 (GRCm39)	I16T	probably benign	Het
Pef1	C	A	4: 130,014,966 (GRCm39)	C10*	probably null	Het
Phf21b	A	G	15: 84,681,547 (GRCm39)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,470,152 (GRCm39)		probably null	Het
Pi16	A	G	17: 29,546,419 (GRCm39)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,772,949 (GRCm39)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,410,522 (GRCm39)	S1170P	probably damaging	Het
Pnma2	C	T	14: 67,154,662 (GRCm39)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm39)	I738T	probably damaging	Het
Prkcsh	A	T	9: 21,919,634 (GRCm39)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,192,498 (GRCm39)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,199,196 (GRCm39)	T123A	probably benign	Het
Robo4	A	G	9: 37,324,355 (GRCm39)	D961G	probably benign	Het
Rps27a	A	G	11: 29,496,299 (GRCm39)	Y105H	probably benign	Het
Scaper	A	G	9: 55,724,018 (GRCm39)	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,154,960 (GRCm39)	Q666H	probably benign	Het
Scn1a	T	A	2: 66,154,961 (GRCm39)	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,042,234 (GRCm39)		probably null	Het
Sec14l3	A	G	11: 4,016,510 (GRCm39)		probably benign	Het
Selp	C	A	1: 163,955,729 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,882,013 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,066,071 (GRCm39)	E679V	probably null	Het
Sytl3	G	A	17: 6,995,726 (GRCm39)	E169K	probably benign	Het
Taar1	T	C	10: 23,797,087 (GRCm39)	C262R	probably benign	Het
Taf7l2	T	C	10: 115,948,570 (GRCm39)	R319G	probably benign	Het
Tbc1d32	A	G	10: 55,893,700 (GRCm39)	I1291T	probably benign	Het
Tet1	G	A	10: 62,649,444 (GRCm39)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,110,795 (GRCm39)	G7W	probably damaging	Het
Thada	A	G	17: 84,533,432 (GRCm39)	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,897,989 (GRCm39)	V610A	probably benign	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Tmem65	A	T	15: 58,658,962 (GRCm39)	H200Q	probably damaging	Het
Trgc3	A	G	13: 19,447,535 (GRCm39)	T163A	possibly damaging	Het
Trim62	T	C	4: 128,803,018 (GRCm39)	V356A	possibly damaging	Het
Ttn	T	C	2: 76,562,502 (GRCm39)	D28781G	probably damaging	Het
Ttn	C	T	2: 76,593,604 (GRCm39)	V20679I	probably benign	Het
Tut7	A	T	13: 59,962,749 (GRCm39)	Y339*	probably null	Het
Unc80	A	T	1: 66,678,407 (GRCm39)	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,413,742 (GRCm39)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,899,456 (GRCm39)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,038,369 (GRCm39)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,650,487 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,389,359 (GRCm39)	T66A	probably benign	Het
Xirp2	T	A	2: 67,341,484 (GRCm39)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,940,384 (GRCm39)	T70M	probably damaging	Het
Zfp248	T	C	6: 118,405,931 (GRCm39)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,417,344 (GRCm39)	I593F	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
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'- AACAATCGCAGCATTTGGC -3'
(R):5'- CAGACAGGGACATAGCAGTC -3'

Sequencing Primer
(F):5'- CGAGAGAGAGCTGTCCCTTGATC -3'
(R):5'- GACATAGCAGTCCTTTTCAGAGTC -3'

Posted On

2014-06-23