Incidental Mutation 'R1237:Ccdc174'
| ID |
152457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc174
|
| Ensembl Gene |
ENSMUSG00000034083 |
| Gene Name |
coiled-coil domain containing 174 |
| Synonyms |
C130022K22Rik |
| MMRRC Submission |
039304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91855034-91876824 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 91867768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037783]
[ENSMUST00000136090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037783
|
| SMART Domains |
Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
coiled coil region
|
64 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
152 |
N/A |
INTRINSIC |
|
Pfam:DUF4078
|
215 |
303 |
4.4e-32 |
PFAM |
|
low complexity region
|
323 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151378
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
| Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
| Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
| Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
| Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
| Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
| Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccdc174 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01633:Ccdc174
|
APN |
6 |
91,857,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02391:Ccdc174
|
APN |
6 |
91,875,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02619:Ccdc174
|
APN |
6 |
91,876,538 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02698:Ccdc174
|
APN |
6 |
91,867,834 (GRCm39) |
missense |
probably benign |
|
|
R0482:Ccdc174
|
UTSW |
6 |
91,872,247 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0612:Ccdc174
|
UTSW |
6 |
91,867,873 (GRCm39) |
splice site |
probably benign |
|
|
R0801:Ccdc174
|
UTSW |
6 |
91,872,313 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1124:Ccdc174
|
UTSW |
6 |
91,876,561 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1388:Ccdc174
|
UTSW |
6 |
91,858,225 (GRCm39) |
splice site |
probably null |
|
|
R2176:Ccdc174
|
UTSW |
6 |
91,865,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3914:Ccdc174
|
UTSW |
6 |
91,876,338 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4342:Ccdc174
|
UTSW |
6 |
91,862,337 (GRCm39) |
nonsense |
probably null |
|
|
R4775:Ccdc174
|
UTSW |
6 |
91,867,875 (GRCm39) |
splice site |
probably null |
|
|
R4880:Ccdc174
|
UTSW |
6 |
91,876,572 (GRCm39) |
unclassified |
probably benign |
|
|
R5579:Ccdc174
|
UTSW |
6 |
91,858,331 (GRCm39) |
splice site |
probably null |
|
|
R5787:Ccdc174
|
UTSW |
6 |
91,858,291 (GRCm39) |
nonsense |
probably null |
|
|
R5869:Ccdc174
|
UTSW |
6 |
91,862,399 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6277:Ccdc174
|
UTSW |
6 |
91,857,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Ccdc174
|
UTSW |
6 |
91,865,138 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF008:Ccdc174
|
UTSW |
6 |
91,876,347 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCACAGCAAGCTTAGTGAGTC -3'
(R):5'- CAGGTTGTTCCCTGAGCACAGAAG -3'
Sequencing Primer
(F):5'- GCAAGCTTAGTGAGTCTCAGC -3'
(R):5'- GTTCCCTGAGCACAGAAGATTATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation