Incidental Mutation 'R3870:Ccdc93'
| ID |
276480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc93
|
| Ensembl Gene |
ENSMUSG00000026339 |
| Gene Name |
coiled-coil domain containing 93 |
| Synonyms |
9230102M16Rik, 4633402D15Rik |
| MMRRC Submission |
040789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R3870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121390843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 272
(S272G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036025]
[ENSMUST00000112621]
|
| AlphaFold |
Q7TQK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036025
AA Change: S273G
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: S273G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KOG2701
|
27 |
206 |
2e-81 |
PFAM |
|
coiled coil region
|
316 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
558 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112621
AA Change: S272G
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: S272G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KOG2701
|
26 |
207 |
1.1e-86 |
PFAM |
|
coiled coil region
|
231 |
269 |
N/A |
INTRINSIC |
|
coiled coil region
|
315 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
557 |
598 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
90% (61/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,880,828 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,182,418 (GRCm39) |
C514F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,813 (GRCm39) |
|
probably benign |
Het |
| Armcx2 |
A |
T |
X: 133,707,048 (GRCm39) |
V195E |
probably benign |
Het |
| Atg7 |
T |
C |
6: 114,674,008 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,876,033 (GRCm39) |
Y1003* |
probably null |
Het |
| Ces1d |
C |
G |
8: 93,901,714 (GRCm39) |
L418F |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,247,948 (GRCm39) |
K1499M |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,967,434 (GRCm39) |
D120V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,211 (GRCm39) |
V71E |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,256,853 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,047,537 (GRCm39) |
|
probably benign |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm11555 |
G |
T |
11: 99,540,816 (GRCm39) |
C64* |
probably null |
Het |
| Gm5468 |
A |
G |
15: 25,414,561 (GRCm39) |
|
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,054,491 (GRCm39) |
L74Q |
probably damaging |
Het |
| Hnrnpa0 |
G |
A |
13: 58,275,713 (GRCm39) |
R139C |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,880 (GRCm39) |
Y387C |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,289,440 (GRCm39) |
D216E |
probably damaging |
Het |
| Lingo1 |
A |
T |
9: 56,527,009 (GRCm39) |
S533T |
probably benign |
Het |
| Lmtk2 |
T |
G |
5: 144,103,245 (GRCm39) |
|
probably benign |
Het |
| Map1s |
A |
G |
8: 71,369,745 (GRCm39) |
E939G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,645,360 (GRCm39) |
T695I |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,245,524 (GRCm39) |
R241W |
probably benign |
Het |
| Mfsd4a |
G |
A |
1: 131,974,091 (GRCm39) |
T261I |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,968,095 (GRCm39) |
S144P |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,492,239 (GRCm39) |
H727L |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,477 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,690 (GRCm39) |
R352G |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,134,055 (GRCm39) |
R222Q |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,418,047 (GRCm39) |
Y252* |
probably null |
Het |
| Pard3 |
T |
C |
8: 128,136,167 (GRCm39) |
S847P |
probably damaging |
Het |
| Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
| Plcb1 |
A |
C |
2: 135,167,591 (GRCm39) |
I462L |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,230,416 (GRCm39) |
V814A |
possibly damaging |
Het |
| Rasal3 |
G |
A |
17: 32,612,522 (GRCm39) |
R780W |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,768,427 (GRCm39) |
E359G |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,451 (GRCm39) |
L579F |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,582,781 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
A |
G |
1: 125,490,098 (GRCm39) |
T65A |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,762 (GRCm39) |
S180R |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,684,079 (GRCm39) |
T129A |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,810 (GRCm39) |
C529S |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,510,361 (GRCm39) |
M630L |
probably benign |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,905 (GRCm39) |
D103E |
probably benign |
Het |
| Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,178,891 (GRCm39) |
T111A |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,997,544 (GRCm39) |
Q4R |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,570,500 (GRCm39) |
S1149R |
probably damaging |
Het |
| Uncx |
T |
C |
5: 139,533,120 (GRCm39) |
L395P |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
| Usp32 |
A |
T |
11: 84,897,881 (GRCm39) |
Y1153* |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,042 (GRCm39) |
E264G |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,461,050 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,792,008 (GRCm39) |
I425V |
probably benign |
Het |
| Vstm4 |
C |
T |
14: 32,585,712 (GRCm39) |
A93V |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,909,885 (GRCm39) |
S97T |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,480,218 (GRCm39) |
C758R |
probably damaging |
Het |
|
| Other mutations in Ccdc93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Ccdc93
|
APN |
1 |
121,389,628 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01845:Ccdc93
|
APN |
1 |
121,390,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Ccdc93
|
APN |
1 |
121,376,005 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02610:Ccdc93
|
APN |
1 |
121,420,700 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02691:Ccdc93
|
APN |
1 |
121,414,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03003:Ccdc93
|
APN |
1 |
121,390,846 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02796:Ccdc93
|
UTSW |
1 |
121,418,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Ccdc93
|
UTSW |
1 |
121,420,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1229:Ccdc93
|
UTSW |
1 |
121,362,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Ccdc93
|
UTSW |
1 |
121,418,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Ccdc93
|
UTSW |
1 |
121,408,551 (GRCm39) |
missense |
probably benign |
|
|
R1559:Ccdc93
|
UTSW |
1 |
121,389,712 (GRCm39) |
splice site |
probably benign |
|
|
R1728:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1728:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1865:Ccdc93
|
UTSW |
1 |
121,426,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1897:Ccdc93
|
UTSW |
1 |
121,418,941 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2089:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3783:Ccdc93
|
UTSW |
1 |
121,365,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Ccdc93
|
UTSW |
1 |
121,389,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Ccdc93
|
UTSW |
1 |
121,411,065 (GRCm39) |
missense |
probably benign |
|
|
R5896:Ccdc93
|
UTSW |
1 |
121,390,849 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6251:Ccdc93
|
UTSW |
1 |
121,362,269 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7765:Ccdc93
|
UTSW |
1 |
121,427,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Ccdc93
|
UTSW |
1 |
121,426,960 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8017:Ccdc93
|
UTSW |
1 |
121,375,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Ccdc93
|
UTSW |
1 |
121,375,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Ccdc93
|
UTSW |
1 |
121,422,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8369:Ccdc93
|
UTSW |
1 |
121,405,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8789:Ccdc93
|
UTSW |
1 |
121,424,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8877:Ccdc93
|
UTSW |
1 |
121,403,867 (GRCm39) |
missense |
probably benign |
|
|
R8919:Ccdc93
|
UTSW |
1 |
121,426,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
|
R9436:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
|
R9437:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
|
R9438:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Ccdc93
|
UTSW |
1 |
121,365,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Ccdc93
|
UTSW |
1 |
121,403,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACACAGCCAACTGAGTGCTG -3'
(R):5'- ATGAATTTAGCTCATGGGCGGG -3'
Sequencing Primer
(F):5'- CCAACTGAGTGCTGGAGAC -3'
(R):5'- CATGGGCGGGCGTAGATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation