Incidental Mutation 'R1388:Ccdc174'
| ID |
162490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc174
|
| Ensembl Gene |
ENSMUSG00000034083 |
| Gene Name |
coiled-coil domain containing 174 |
| Synonyms |
C130022K22Rik |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1388 (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 A
at 91858225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037783]
[ENSMUST00000136090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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: ENSMUST00000138868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206250
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
R1237:Ccdc174
|
UTSW |
6 |
91,867,768 (GRCm39) |
splice site |
probably benign |
|
|
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'- GTTTACAGCTCCAGCTTTGTCATATGC -3'
(R):5'- AGTTGGCCCTTCATATCCAGAGTCC -3'
Sequencing Primer
(F):5'- TCATATGCTGATGGAGGCTG -3'
(R):5'- tttcttggcattccctaaaaaaatac -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation