Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Sim1'

695856

Institutional Source

Beutler Lab

Gene Symbol

Sim1

Ensembl Gene

ENSMUSG00000019913

Gene Name

single-minded family bHLH transcription factor 1

Synonyms

bHLHe14

MMRRC Submission

068975-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50770850-50865248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50772165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 58 (E58G)

Ref Sequence

ENSEMBL: ENSMUSP00000020071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020071] [ENSMUST00000219436]

AlphaFold

Q61045

Predicted Effect

probably benign
Transcript: ENSMUST00000020071
AA Change: E58G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: E58G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219436
AA Change: E58G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arhgap35	C	A	7: 16,295,549 (GRCm39)	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cdc14a	G	T	3: 116,122,213 (GRCm39)	D251E	possibly damaging	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,342,198 (GRCm39)	R40H	probably damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Prkag1	T	C	15: 98,711,900 (GRCm39)	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,425,444 (GRCm39)	V380A	probably damaging	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	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
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
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'- GAGCCCGAGACACGATGAAA -3'
(R):5'- CCAACCAAATATATCGAATGTGTTGG -3'

Sequencing Primer
(F):5'- AGAAAAGTCTAAAAATGCTGCCCG -3'
(R):5'- TCGAATGTGTTGGAGAGAGAAATAC -3'

Posted On

2022-02-07