Incidental Mutation 'IGL01965:Sim2'
| ID |
182509 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sim2
|
| Ensembl Gene |
ENSMUSG00000062713 |
| Gene Name |
single-minded family bHLH transcription factor 2 |
| Synonyms |
bHLHe15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
93885963-93927891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93922037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 294
(Y294F)
|
| 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: Y294F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: Y294F
| 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 |
noncoding transcript
Transcript: ENSMUST00000231295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231688
AA Change: Y294F
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| 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 |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation