Incidental Mutation 'R5555:Sim2'
| ID |
435356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sim2
|
| Ensembl Gene |
ENSMUSG00000062713 |
| Gene Name |
single-minded family bHLH transcription factor 2 |
| Synonyms |
bHLHe15 |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93885963-93927891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93910315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 239
(D239G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072182]
[ENSMUST00000231688]
|
| AlphaFold |
Q61079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072182
AA Change: D239G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: D239G
| 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 damaging
Transcript: ENSMUST00000231688
AA Change: D239G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
probably benign |
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 |
|
R4475:Sim2
|
UTSW |
16 |
93,926,650 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CTTCCCAGGTCATTCACTGCAG -3'
(R):5'- TCGTATGGTCAGTGTGCATCAC -3'
Sequencing Primer
(F):5'- ATTCACTGCAGCGGCTAC -3'
(R):5'- GGTCAGTGTGCATCACAAGCTTAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation