Incidental Mutation 'IGL02883:Crtc1'
| ID |
362867 |
| 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 # |
IGL02883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70835005-70892229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70858775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 112
(G112S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076615]
|
| AlphaFold |
Q68ED7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076615
AA Change: G112S
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: G112S
| 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: ENSMUST00000125273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153632
|
| 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 |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
| Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
| Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
| Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
| Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
| Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
| Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
| Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
| Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
| Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
| Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
| Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
| Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
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 |
|
IGL01361:Crtc1
|
APN |
8 |
70,840,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation