Incidental Mutation 'R3820:Ccdc93'
| ID |
274841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc93
|
| Ensembl Gene |
ENSMUSG00000026339 |
| Gene Name |
coiled-coil domain containing 93 |
| Synonyms |
9230102M16Rik, 4633402D15Rik |
| MMRRC Submission |
040882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.851)
|
| Stock # |
R3820 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121389969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 253
(I253T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036025]
[ENSMUST00000112621]
|
| AlphaFold |
Q7TQK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036025
AA Change: I253T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: I253T
| 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 damaging
Transcript: ENSMUST00000112621
AA Change: I252T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: I252T
| 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 |
0.1128 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
T |
18: 6,630,166 (GRCm39) |
|
probably null |
Het |
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,798 (GRCm39) |
I57T |
probably benign |
Het |
| Adam6b |
C |
T |
12: 113,453,984 (GRCm39) |
T267I |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,338,030 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
G |
A |
14: 33,089,378 (GRCm39) |
E455K |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,094,583 (GRCm39) |
V917I |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Edar |
T |
C |
10: 58,457,185 (GRCm39) |
Y131C |
probably damaging |
Het |
| Eif5 |
A |
T |
12: 111,506,618 (GRCm39) |
R43* |
probably null |
Het |
| Eml4 |
C |
A |
17: 83,780,494 (GRCm39) |
T667K |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,636,827 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,424,270 (GRCm39) |
I3056F |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgb3 |
C |
A |
11: 104,524,438 (GRCm39) |
Y191* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,350,006 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,904 (GRCm39) |
H486R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,277 (GRCm39) |
N950S |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Micall2 |
C |
T |
5: 139,701,611 (GRCm39) |
G461D |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,811,419 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,659,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Prkar2a |
T |
G |
9: 108,624,155 (GRCm39) |
F391V |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,328 (GRCm39) |
C1056R |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,862 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,802,802 (GRCm39) |
Y112* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdrd5 |
A |
G |
1: 156,113,053 (GRCm39) |
V409A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,964,813 (GRCm39) |
N1436I |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,838,240 (GRCm39) |
S870R |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,143 (GRCm39) |
P509S |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,769,438 (GRCm39) |
C264S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,657,381 (GRCm39) |
K521* |
probably null |
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 |
|
R3870:Ccdc93
|
UTSW |
1 |
121,390,843 (GRCm39) |
missense |
probably benign |
0.23 |
|
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'- GCATTAGCTCTCACCCACAG -3'
(R):5'- AGAAGGCCCTGATGTCAGTG -3'
Sequencing Primer
(F):5'- ACAGCTCTCTCAAGCAGCCTTC -3'
(R):5'- CCCTGATGTCAGTGCTAAGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation