Incidental Mutation 'IGL00228:Crtc1'
| ID |
2309 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crtc1
|
| Ensembl Gene |
ENSMUSG00000003575 |
| Gene Name |
CREB regulated transcription coactivator 1 |
| Synonyms |
Mect1, TORC1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
IGL00228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70835005-70892229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70892172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 13
(K13E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076615]
|
| AlphaFold |
Q68ED7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076615
AA Change: K13E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: K13E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TORC_N
|
6 |
66 |
1.1e-26 |
PFAM |
|
Pfam:TORC_M
|
148 |
289 |
4.8e-64 |
PFAM |
|
low complexity region
|
359 |
394 |
N/A |
INTRINSIC |
|
Pfam:TORC_C
|
555 |
630 |
9.2e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142769
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
| Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
| Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
| Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
| Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
| Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
| Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
| Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
| Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
| Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
| Other mutations in Crtc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Crtc1
|
APN |
8 |
70,840,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Crtc1
|
APN |
8 |
70,858,775 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0049:Crtc1
|
UTSW |
8 |
70,844,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0196:Crtc1
|
UTSW |
8 |
70,838,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Crtc1
|
UTSW |
8 |
70,855,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0588:Crtc1
|
UTSW |
8 |
70,892,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0744:Crtc1
|
UTSW |
8 |
70,845,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Crtc1
|
UTSW |
8 |
70,845,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0836:Crtc1
|
UTSW |
8 |
70,845,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0905:Crtc1
|
UTSW |
8 |
70,843,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Crtc1
|
UTSW |
8 |
70,844,769 (GRCm39) |
nonsense |
probably null |
|
|
R1300:Crtc1
|
UTSW |
8 |
70,840,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1533:Crtc1
|
UTSW |
8 |
70,850,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Crtc1
|
UTSW |
8 |
70,840,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2393:Crtc1
|
UTSW |
8 |
70,840,808 (GRCm39) |
missense |
probably benign |
|
|
R4867:Crtc1
|
UTSW |
8 |
70,855,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Crtc1
|
UTSW |
8 |
70,850,383 (GRCm39) |
splice site |
probably benign |
|
|
R6062:Crtc1
|
UTSW |
8 |
70,858,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6342:Crtc1
|
UTSW |
8 |
70,892,207 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R6912:Crtc1
|
UTSW |
8 |
70,850,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Crtc1
|
UTSW |
8 |
70,840,251 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8852:Crtc1
|
UTSW |
8 |
70,840,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Crtc1
|
UTSW |
8 |
70,840,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Crtc1
|
UTSW |
8 |
70,855,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9539:Crtc1
|
UTSW |
8 |
70,892,115 (GRCm39) |
missense |
probably benign |
|
|
R9738:Crtc1
|
UTSW |
8 |
70,840,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation