Incidental Mutation 'R3914:Ccdc174'
| ID |
309554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc174
|
| Ensembl Gene |
ENSMUSG00000034083 |
| Gene Name |
coiled-coil domain containing 174 |
| Synonyms |
C130022K22Rik |
| MMRRC Submission |
040912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91855034-91876824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91876338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 392
(A392S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037783]
[ENSMUST00000136090]
[ENSMUST00000205686]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037783
AA Change: A392S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: A392S
| 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: ENSMUST00000147188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205974
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
| AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
| Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
| Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
| Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly damaging |
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 |
|
R1237:Ccdc174
|
UTSW |
6 |
91,867,768 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- AGGCTACTCCATTTCTTAGCTG -3'
(R):5'- AAAGTGACTGTGGGCGCTTG -3'
Sequencing Primer
(F):5'- TCCTTGTTCTTAGATAATCTGTCGTG -3'
(R):5'- GTGGTGAGCTTTCAGAGGCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation