Incidental Mutation 'R4919:Sim2'
| ID |
378491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sim2
|
| Ensembl Gene |
ENSMUSG00000062713 |
| Gene Name |
single-minded family bHLH transcription factor 2 |
| Synonyms |
bHLHe15 |
| MMRRC Submission |
042521-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93885963-93927891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93910194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 199
(S199P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072182]
[ENSMUST00000231688]
|
| AlphaFold |
Q61079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072182
AA Change: S199P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: S199P
| 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: ENSMUST00000231688
AA Change: S199P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0995 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,245 (GRCm39) |
D240G |
possibly damaging |
Het |
| Aplf |
T |
C |
6: 87,607,046 (GRCm39) |
D456G |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,489 (GRCm39) |
F445S |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,709 (GRCm39) |
R214C |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,402,109 (GRCm39) |
I1101K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,523,983 (GRCm39) |
V728A |
probably benign |
Het |
| Gosr1 |
T |
A |
11: 76,625,392 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80 |
T |
A |
2: 119,273,073 (GRCm39) |
T468S |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,397 (GRCm39) |
K134E |
probably damaging |
Het |
| Klhl17 |
C |
T |
4: 156,318,344 (GRCm39) |
V93I |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,519,393 (GRCm39) |
P2239Q |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,173 (GRCm39) |
F161L |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,537,246 (GRCm39) |
I14F |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,813,974 (GRCm39) |
|
probably null |
Het |
| Musk |
A |
C |
4: 58,366,899 (GRCm39) |
I506L |
probably damaging |
Het |
| Mydgf |
C |
T |
17: 56,483,953 (GRCm39) |
V158I |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,963,071 (GRCm39) |
P459S |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,427 (GRCm39) |
K272* |
probably null |
Het |
| Or2w6 |
A |
T |
13: 21,842,794 (GRCm39) |
I233N |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,992 (GRCm39) |
V19A |
probably benign |
Het |
| Pnmt |
T |
A |
11: 98,277,477 (GRCm39) |
L7Q |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,142 (GRCm39) |
I197V |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,037,293 (GRCm39) |
S13P |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 85,001,305 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,712 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,146 (GRCm39) |
T250A |
possibly damaging |
Het |
| Sv2a |
A |
G |
3: 96,098,071 (GRCm39) |
N558S |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,401,305 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,405,561 (GRCm39) |
Y46C |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,578 (GRCm39) |
S668P |
possibly damaging |
Het |
| Vwa1 |
C |
A |
4: 155,855,057 (GRCm39) |
A326S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,752,115 (GRCm39) |
M327T |
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 |
|
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'- ATCTCAACAGGAACTTGGGTGAAG -3'
(R):5'- TGCTCATCTGCGACCAGTTC -3'
Sequencing Primer
(F):5'- ACTTGGGTGAAGGATGGCCTAC -3'
(R):5'- CTTTCTGGGCAGTCACAGCAATG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation