Incidental Mutation 'R8369:Ccdc93'
| ID |
646275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc93
|
| Ensembl Gene |
ENSMUSG00000026339 |
| Gene Name |
coiled-coil domain containing 93 |
| Synonyms |
9230102M16Rik, 4633402D15Rik |
| MMRRC Submission |
067739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.851)
|
| Stock # |
R8369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121405597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 347
(Y347H)
|
| 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: Y347H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: Y347H
| 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: Y346H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: Y346H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
A |
16: 90,852,657 (GRCm39) |
H160Y |
probably benign |
Het |
| Abcc4 |
T |
G |
14: 118,864,869 (GRCm39) |
I386L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,761,669 (GRCm39) |
R1686* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,465,477 (GRCm39) |
I2122N |
probably benign |
Het |
| Arhgap44 |
A |
T |
11: 64,950,680 (GRCm39) |
D119E |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,747 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,065,752 (GRCm39) |
L9M |
|
Het |
| Brinp1 |
A |
T |
4: 68,716,936 (GRCm39) |
L304Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,044,465 (GRCm39) |
V349A |
probably benign |
Het |
| Cyb5r4 |
A |
T |
9: 86,922,486 (GRCm39) |
D165V |
probably benign |
Het |
| Cygb |
G |
A |
11: 116,540,109 (GRCm39) |
T180I |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,916,939 (GRCm39) |
S285R |
probably benign |
Het |
| Daxx |
G |
T |
17: 34,131,590 (GRCm39) |
C433F |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,185,043 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,938,766 (GRCm39) |
I115F |
probably damaging |
Het |
| Dnajc5b |
A |
G |
3: 19,664,796 (GRCm39) |
D198G |
probably damaging |
Het |
| Ercc1 |
T |
A |
7: 19,088,377 (GRCm39) |
C243* |
probably null |
Het |
| Ermard |
T |
C |
17: 15,273,560 (GRCm39) |
F382L |
probably damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,861,680 (GRCm39) |
G1879V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,150,905 (GRCm39) |
H516Q |
unknown |
Het |
| Gcsam |
T |
A |
16: 45,436,369 (GRCm39) |
W51R |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,181,097 (GRCm39) |
V122A |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,798,111 (GRCm39) |
S1065T |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Krt24 |
A |
T |
11: 99,173,534 (GRCm39) |
C262* |
probably null |
Het |
| Lrat |
T |
C |
3: 82,810,865 (GRCm39) |
E52G |
probably damaging |
Het |
| Misp3 |
T |
A |
8: 84,737,627 (GRCm39) |
H94L |
unknown |
Het |
| N4bp3 |
A |
G |
11: 51,535,253 (GRCm39) |
L312P |
probably damaging |
Het |
| Naxe |
T |
C |
3: 87,963,994 (GRCm39) |
T246A |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,519,847 (GRCm39) |
M1L |
probably benign |
Het |
| Slc7a6 |
G |
A |
8: 106,919,796 (GRCm39) |
A270T |
probably damaging |
Het |
| Sord |
T |
A |
2: 122,076,976 (GRCm39) |
I27K |
probably benign |
Het |
| Srek1ip1 |
A |
G |
13: 104,970,798 (GRCm39) |
E83G |
probably benign |
Het |
| Srgap3 |
A |
C |
6: 112,699,779 (GRCm39) |
N1090K |
probably benign |
Het |
| Sult2a6 |
A |
C |
7: 13,987,327 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,223,888 (GRCm39) |
I191N |
probably damaging |
Het |
| Thoc3 |
A |
G |
13: 54,615,708 (GRCm39) |
S119P |
probably damaging |
Het |
| Tirap |
A |
G |
9: 35,100,052 (GRCm39) |
S211P |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,876 (GRCm39) |
T632A |
probably benign |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,486 (GRCm39) |
I126F |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,710,480 (GRCm39) |
T114A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,342 (GRCm39) |
L77P |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,198 (GRCm39) |
T716I |
probably damaging |
Het |
| Yod1 |
A |
G |
1: 130,645,360 (GRCm39) |
K47R |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,304,201 (GRCm39) |
M1261K |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,583,448 (GRCm39) |
I1105T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,441,353 (GRCm39) |
K436N |
probably damaging |
Het |
| Zfp979 |
T |
C |
4: 147,697,548 (GRCm39) |
H387R |
possibly 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 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ccdc93
|
UTSW |
1 |
121,389,668 (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 |
|
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 |
|
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'- AAATGAAAGTCCTTCTGTGTAAGTC -3'
(R):5'- AGGCTTGTGGGTGATACAC -3'
Sequencing Primer
(F):5'- AAGTCTGTTTTAAGCCGATCTGG -3'
(R):5'- ATGCTGCTAATGTGACAGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation