Incidental Mutation 'R5298:Ccdc97'
| ID |
405531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc97
|
| Ensembl Gene |
ENSMUSG00000002608 |
| Gene Name |
coiled-coil domain containing 97 |
| Synonyms |
D7Ertd462e, 2810446P04Rik, 1200014H14Rik |
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25410537-25418460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25415432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002683]
[ENSMUST00000125699]
|
| AlphaFold |
Q9DBT3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002683
AA Change: V77A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002683
Gene: ENSMUSG00000002608
AA Change: V77A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2052
|
156 |
327 |
4.1e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125699
AA Change: V12A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154143
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably damaging |
Het |
|
| Other mutations in Ccdc97 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Ccdc97
|
APN |
7 |
25,414,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Ccdc97
|
UTSW |
7 |
25,415,405 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0369:Ccdc97
|
UTSW |
7 |
25,413,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0617:Ccdc97
|
UTSW |
7 |
25,413,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Ccdc97
|
UTSW |
7 |
25,414,453 (GRCm39) |
splice site |
probably benign |
|
|
R4247:Ccdc97
|
UTSW |
7 |
25,415,459 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4747:Ccdc97
|
UTSW |
7 |
25,418,348 (GRCm39) |
splice site |
probably null |
|
|
R5310:Ccdc97
|
UTSW |
7 |
25,415,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Ccdc97
|
UTSW |
7 |
25,415,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6812:Ccdc97
|
UTSW |
7 |
25,412,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Ccdc97
|
UTSW |
7 |
25,414,384 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Ccdc97
|
UTSW |
7 |
25,414,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Ccdc97
|
UTSW |
7 |
25,412,494 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9105:Ccdc97
|
UTSW |
7 |
25,412,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCGGCACAGTAGAAATCAG -3'
(R):5'- ATGCCCTTAACTAAAGACTCCTCTTG -3'
Sequencing Primer
(F):5'- TAGAAATCAGCACGGTGGTCTCC -3'
(R):5'- TCTTGACTCTCAGACGGCGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation