Incidental Mutation 'R1016:Crtc1'
ID |
96326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crtc1
|
Ensembl Gene |
ENSMUSG00000003575 |
Gene Name |
CREB regulated transcription coactivator 1 |
Synonyms |
Mect1, TORC1 |
MMRRC Submission |
039120-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.420)
|
Stock # |
R1016 (G1)
|
Quality Score |
200 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70835005-70892229 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 70844769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 351
(Y351*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076615]
|
AlphaFold |
Q68ED7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076615
AA Change: Y351*
|
SMART Domains |
Protein: ENSMUSP00000075916 Gene: ENSMUSG00000003575 AA Change: Y351*
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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCCTGTGTAAAGCTGATGGC -3'
(R):5'- TCCTGTGTGAGATCCACCCTCAAC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- ACAAGTTGGGCTCCCTTGC -3'
|
Posted On |
2014-01-05 |