Incidental Mutation 'R2919:Sim1'
| ID |
255436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sim1
|
| Ensembl Gene |
ENSMUSG00000019913 |
| Gene Name |
single-minded family bHLH transcription factor 1 |
| Synonyms |
bHLHe14 |
| MMRRC Submission |
040504-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
50770850-50865248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50785911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 255
(Y255H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020071]
|
| AlphaFold |
Q61045 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020071
AA Change: Y255H
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020071
Gene: ENSMUSG00000019913
AA Change: Y255H
| 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 |
0.5044 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,122,001 (GRCm39) |
R27H |
probably benign |
Het |
| 2310002L09Rik |
A |
T |
4: 73,868,845 (GRCm39) |
L31Q |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,064,406 (GRCm39) |
D53N |
probably damaging |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Als2cl |
A |
T |
9: 110,726,567 (GRCm39) |
|
probably null |
Het |
| Atg9b |
T |
A |
5: 24,596,542 (GRCm39) |
T125S |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,343 (GRCm39) |
D1472G |
probably damaging |
Het |
| Cd1d2 |
C |
G |
3: 86,894,987 (GRCm39) |
P158A |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,627,543 (GRCm39) |
I94T |
probably benign |
Het |
| Chd6 |
T |
G |
2: 160,809,800 (GRCm39) |
D1487A |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,947 (GRCm39) |
Y340C |
probably damaging |
Het |
| Fbxl12 |
C |
T |
9: 20,553,509 (GRCm39) |
R26H |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,021 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,711,958 (GRCm39) |
A425E |
possibly damaging |
Het |
| Kif1a |
A |
G |
1: 92,974,464 (GRCm39) |
Y964H |
probably damaging |
Het |
| Lrp1b |
A |
C |
2: 41,660,911 (GRCm39) |
C66G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,321,075 (GRCm39) |
I1034V |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,124,879 (GRCm39) |
V820A |
possibly damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mroh9 |
A |
C |
1: 162,884,341 (GRCm39) |
M399R |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp2 |
G |
A |
5: 65,964,441 (GRCm39) |
G830D |
probably benign |
Het |
| Nagpa |
G |
A |
16: 5,021,651 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,067 (GRCm39) |
V111M |
probably damaging |
Het |
| Or5g23 |
G |
A |
2: 85,438,754 (GRCm39) |
P167S |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,260,221 (GRCm39) |
|
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,350,924 (GRCm39) |
R323W |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,643,279 (GRCm39) |
G513D |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,112,108 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,582 (GRCm39) |
E1419G |
unknown |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Sgk2 |
T |
G |
2: 162,841,115 (GRCm39) |
L175R |
probably damaging |
Het |
| Sgk2 |
C |
A |
2: 162,841,125 (GRCm39) |
F178L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,534,886 (GRCm39) |
I163N |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,870 (GRCm39) |
L31P |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Slfnl1 |
G |
T |
4: 120,390,275 (GRCm39) |
|
probably benign |
Het |
| Stradb |
G |
A |
1: 59,031,828 (GRCm39) |
V247M |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,289,967 (GRCm39) |
|
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,707,614 (GRCm39) |
|
probably benign |
Het |
| Syk |
C |
T |
13: 52,765,157 (GRCm39) |
P95S |
probably benign |
Het |
| Taar2 |
T |
A |
10: 23,817,454 (GRCm39) |
N331K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,117,587 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,188 (GRCm39) |
|
probably null |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,331,276 (GRCm39) |
C158S |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,988,548 (GRCm39) |
I310T |
probably benign |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Xirp1 |
T |
C |
9: 119,847,767 (GRCm39) |
E372G |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,790 (GRCm39) |
E198G |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,160 (GRCm39) |
N44D |
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 |
|
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'- AGACTCTGAACAGTTGCAGCAC -3'
(R):5'- TCAGAGTCTCTGTACTGCTACC -3'
Sequencing Primer
(F):5'- ACAATCGCAGCATTTGGC -3'
(R):5'- AGAGTCTCTGTACTGCTACCACCTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation