Incidental Mutation 'R4475:Sim2'
| ID |
384562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sim2
|
| Ensembl Gene |
ENSMUSG00000062713 |
| Gene Name |
single-minded family bHLH transcription factor 2 |
| Synonyms |
bHLHe15 |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
26 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93885963-93927891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93926650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 625
(S625P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072182]
[ENSMUST00000099512]
[ENSMUST00000163193]
[ENSMUST00000227141]
[ENSMUST00000228910]
[ENSMUST00000231688]
|
| AlphaFold |
Q61079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072182
AA Change: S625P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: S625P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
6 |
58 |
6.99e-5 |
SMART |
|
PAS
|
79 |
145 |
7.8e-13 |
SMART |
|
PAS
|
220 |
286 |
1.31e-5 |
SMART |
|
PAC
|
292 |
335 |
2.44e-5 |
SMART |
|
Pfam:SIM_C
|
358 |
650 |
4.5e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099512
|
| SMART Domains |
Protein: ENSMUSP00000097112
Gene: ENSMUSG00000040820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
Pfam:BPL_LplA_LipB
|
467 |
599 |
1.9e-21 |
PFAM |
|
Pfam:BPL_C
|
665 |
714 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163193
|
| SMART Domains |
Protein: ENSMUSP00000130981
Gene: ENSMUSG00000040820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
Pfam:BPL_LplA_LipB
|
467 |
599 |
3.6e-30 |
PFAM |
|
Pfam:BPL_C
|
665 |
714 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231688
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
Het |
|
| Other mutations in Sim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Sim2
|
APN |
16 |
93,915,803 (GRCm39) |
nonsense |
probably null |
|
|
IGL01329:Sim2
|
APN |
16 |
93,907,119 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01965:Sim2
|
APN |
16 |
93,922,037 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01979:Sim2
|
APN |
16 |
93,924,341 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02821:Sim2
|
APN |
16 |
93,898,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Sim2
|
APN |
16 |
93,910,351 (GRCm39) |
splice site |
probably benign |
|
|
P0027:Sim2
|
UTSW |
16 |
93,910,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4696001:Sim2
|
UTSW |
16 |
93,895,168 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1836:Sim2
|
UTSW |
16 |
93,924,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2034:Sim2
|
UTSW |
16 |
93,886,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4085:Sim2
|
UTSW |
16 |
93,910,213 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4476:Sim2
|
UTSW |
16 |
93,926,650 (GRCm39) |
missense |
probably benign |
|
|
R4647:Sim2
|
UTSW |
16 |
93,924,385 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4919:Sim2
|
UTSW |
16 |
93,910,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4966:Sim2
|
UTSW |
16 |
93,924,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5320:Sim2
|
UTSW |
16 |
93,905,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5555:Sim2
|
UTSW |
16 |
93,910,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Sim2
|
UTSW |
16 |
93,898,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Sim2
|
UTSW |
16 |
93,924,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6020:Sim2
|
UTSW |
16 |
93,898,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Sim2
|
UTSW |
16 |
93,898,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Sim2
|
UTSW |
16 |
93,926,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7170:Sim2
|
UTSW |
16 |
93,923,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7559:Sim2
|
UTSW |
16 |
93,910,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7740:Sim2
|
UTSW |
16 |
93,915,819 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8114:Sim2
|
UTSW |
16 |
93,923,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8244:Sim2
|
UTSW |
16 |
93,910,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8682:Sim2
|
UTSW |
16 |
93,924,192 (GRCm39) |
missense |
probably benign |
0.23 |
|
T0722:Sim2
|
UTSW |
16 |
93,910,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0063:Sim2
|
UTSW |
16 |
93,923,557 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGGATGGACACGTTTC -3'
(R):5'- CGTGCATATACAGTTCGCCC -3'
Sequencing Primer
(F):5'- ACACGTTTCTGAGTGGGC -3'
(R):5'- CATCTGCTGGACCTTGGG -3'
|
| Posted On |
2016-04-28 |
Incidental Mutation