Incidental Mutation 'IGL03144:Ccdc74a'
| ID |
410837 |
| 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 # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17464340-17468602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17466730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 146
(Q146K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006053]
[ENSMUST00000012259]
[ENSMUST00000056962]
[ENSMUST00000080936]
[ENSMUST00000090159]
[ENSMUST00000163476]
[ENSMUST00000182117]
[ENSMUST00000182368]
[ENSMUST00000182344]
[ENSMUST00000232645]
[ENSMUST00000232236]
|
| 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: Q146K
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
AA Change: Q146K
| 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: ENSMUST00000182526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182671
|
| 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: ENSMUST00000183279
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000232012
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232236
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
possibly damaging |
Het |
|
| Other mutations in Ccdc74a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Ccdc74a
|
APN |
16 |
17,467,661 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01549:Ccdc74a
|
APN |
16 |
17,468,406 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation