Incidental Mutation 'IGL01361:Crtc1'
| ID |
75740 |
| 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 # |
IGL01361
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70835005-70892229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70840253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 540
(L540P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076615]
|
| AlphaFold |
Q68ED7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076615
AA Change: L540P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: L540P
| 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: 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,655,718 (GRCm39) |
Y27C |
probably damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
| Fdps |
A |
G |
3: 89,001,749 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
| Hdac7 |
A |
C |
15: 97,709,323 (GRCm39) |
M47R |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,583,196 (GRCm39) |
V370E |
possibly damaging |
Het |
| Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
| Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
| Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,343,508 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
| Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Crtc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Crtc1
|
APN |
8 |
70,892,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-10-07 |
Incidental Mutation