Incidental Mutation 'IGL01014:Ccdc74a'
ID |
54022 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc74a
|
Ensembl Gene |
ENSMUSG00000041617 |
Gene Name |
coiled-coil domain containing 74A |
Synonyms |
2310015A05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL01014
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17464340-17468602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17467661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 200
(T200S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006053]
[ENSMUST00000012259]
[ENSMUST00000056962]
[ENSMUST00000080936]
[ENSMUST00000090159]
[ENSMUST00000163476]
[ENSMUST00000182117]
[ENSMUST00000182344]
[ENSMUST00000232236]
[ENSMUST00000182368]
[ENSMUST00000232645]
|
AlphaFold |
E9Q9U8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006053
|
SMART Domains |
Protein: ENSMUSP00000006053 Gene: ENSMUSG00000005899
Domain | Start | End | E-Value | Type |
Pfam:mit_SMPDase
|
8 |
768 |
N/A |
PFAM |
transmembrane domain
|
769 |
791 |
N/A |
INTRINSIC |
transmembrane domain
|
798 |
815 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000012259
|
SMART Domains |
Protein: ENSMUSP00000012259 Gene: ENSMUSG00000012114
Domain | Start | End | E-Value | Type |
Pfam:Med15
|
17 |
789 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056962
AA Change: T200S
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049541 Gene: ENSMUSG00000041617 AA Change: T200S
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:CCDC92
|
50 |
105 |
4.1e-24 |
PFAM |
low complexity region
|
154 |
164 |
N/A |
INTRINSIC |
Pfam:CCDC74_C
|
209 |
326 |
1.4e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080936
|
SMART Domains |
Protein: ENSMUSP00000079737 Gene: ENSMUSG00000012114
Domain | Start | End | E-Value | Type |
Pfam:Med15
|
17 |
749 |
1.2e-276 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090159
|
SMART Domains |
Protein: ENSMUSP00000087620 Gene: ENSMUSG00000005899
Domain | Start | End | E-Value | Type |
Pfam:mit_SMPDase
|
8 |
288 |
7.4e-177 |
PFAM |
Pfam:mit_SMPDase
|
287 |
752 |
9.4e-259 |
PFAM |
transmembrane domain
|
753 |
775 |
N/A |
INTRINSIC |
transmembrane domain
|
782 |
799 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163476
|
SMART Domains |
Protein: ENSMUSP00000131867 Gene: ENSMUSG00000005899
Domain | Start | End | E-Value | Type |
Pfam:mit_SMPDase
|
8 |
289 |
6.2e-177 |
PFAM |
Pfam:mit_SMPDase
|
285 |
739 |
9.8e-266 |
PFAM |
transmembrane domain
|
740 |
762 |
N/A |
INTRINSIC |
transmembrane domain
|
769 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170401
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182117
|
SMART Domains |
Protein: ENSMUSP00000138657 Gene: ENSMUSG00000041617
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:CCDC92
|
36 |
97 |
2e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182344
|
SMART Domains |
Protein: ENSMUSP00000138131 Gene: ENSMUSG00000041617
Domain | Start | End | E-Value | Type |
Pfam:CCDC92
|
18 |
79 |
1.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182671
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182976
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232236
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231480
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182368
|
SMART Domains |
Protein: ENSMUSP00000138262 Gene: ENSMUSG00000041617
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:CCDC92
|
49 |
110 |
2.9e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232012
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232645
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
Het |
|
Other mutations in Ccdc74a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01549:Ccdc74a
|
APN |
16 |
17,468,406 (GRCm39) |
missense |
probably benign |
|
IGL03144:Ccdc74a
|
APN |
16 |
17,466,730 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0390:Ccdc74a
|
UTSW |
16 |
17,468,340 (GRCm39) |
missense |
probably benign |
0.32 |
R1756:Ccdc74a
|
UTSW |
16 |
17,468,332 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2062:Ccdc74a
|
UTSW |
16 |
17,467,890 (GRCm39) |
missense |
probably benign |
0.00 |
R4697:Ccdc74a
|
UTSW |
16 |
17,467,613 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4864:Ccdc74a
|
UTSW |
16 |
17,466,736 (GRCm39) |
missense |
probably benign |
0.00 |
R6074:Ccdc74a
|
UTSW |
16 |
17,464,591 (GRCm39) |
nonsense |
probably null |
|
R6341:Ccdc74a
|
UTSW |
16 |
17,465,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R6404:Ccdc74a
|
UTSW |
16 |
17,467,889 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7843:Ccdc74a
|
UTSW |
16 |
17,464,613 (GRCm39) |
missense |
|
|
R7943:Ccdc74a
|
UTSW |
16 |
17,468,416 (GRCm39) |
missense |
probably benign |
|
R9175:Ccdc74a
|
UTSW |
16 |
17,468,042 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-28 |