Incidental Mutation 'R6883:Sim2'
| ID |
536915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sim2
|
| Ensembl Gene |
ENSMUSG00000062713 |
| Gene Name |
single-minded family bHLH transcription factor 2 |
| Synonyms |
bHLHe15 |
| MMRRC Submission |
044978-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6883 (G1)
|
| Quality Score |
114.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93885963-93927891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93926395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 540
(A540S)
|
| 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: A540S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072043
Gene: ENSMUSG00000062713
AA Change: A540S
| 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 |
probably benign
Transcript: ENSMUST00000231688
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
92% (45/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
| Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
| Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
| Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,576,172 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
| Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
| Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
| Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,492,110 (GRCm39) |
W352R |
probably damaging |
Het |
| Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
| Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
| Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
| Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
| Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
| Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
| Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tuba4a |
A |
G |
1: 75,194,066 (GRCm39) |
S5P |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
| Unkl |
C |
T |
17: 25,449,307 (GRCm39) |
A78V |
probably damaging |
Het |
| Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
| Vmn2r51 |
G |
T |
7: 9,834,025 (GRCm39) |
Q338K |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
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 |
|
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 |
|
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'- TTTCTGTGAACCTGGCACG -3'
(R):5'- CGTTGGTGATGATGACCGAG -3'
Sequencing Primer
(F):5'- ACGAGCGTCTCTGTGCAAG -3'
(R):5'- TGGTAGTTGAGCAGCACG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation