Incidental Mutation 'R9280:Ccdc33'
| ID |
703569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57965549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 591
(M591K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
AA Change: M406K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: M406K
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
560 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098682
AA Change: M591K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: M591K
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
281 |
385 |
5.79e-3 |
SMART |
|
coiled coil region
|
598 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
884 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119665
AA Change: M406K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: M406K
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215944
AA Change: M591K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
G |
T |
6: 125,039,938 (GRCm39) |
V514L |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,573 (GRCm39) |
I965M |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,818,021 (GRCm39) |
S1468C |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,116 (GRCm39) |
D652G |
possibly damaging |
Het |
| Apobec3 |
A |
C |
15: 79,791,082 (GRCm39) |
N392T |
|
Het |
| Ccdc39 |
T |
C |
3: 33,870,153 (GRCm39) |
E689G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,227 (GRCm39) |
M250K |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,975 (GRCm39) |
S344R |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,160,142 (GRCm39) |
Y57F |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,189,255 (GRCm39) |
I1540V |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,004,071 (GRCm39) |
Q3651H |
possibly damaging |
Het |
| Eif2a |
A |
G |
3: 58,447,009 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,511 (GRCm39) |
N331S |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,774 (GRCm39) |
P168S |
probably damaging |
Het |
| Fam76b |
A |
T |
9: 13,751,012 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,612 (GRCm39) |
E1356G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,201,523 (GRCm39) |
T517I |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,611 (GRCm39) |
C269R |
probably benign |
Het |
| Gm3404 |
C |
T |
5: 146,462,756 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,345,248 (GRCm39) |
F435S |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,295,490 (GRCm39) |
Y191N |
|
Het |
| Ide |
T |
C |
19: 37,307,801 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,420 (GRCm39) |
T90S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,410 (GRCm39) |
C311R |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,922 (GRCm39) |
E390G |
unknown |
Het |
| Ints1 |
C |
T |
5: 139,750,469 (GRCm39) |
C896Y |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,736 (GRCm39) |
E289G |
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,755,997 (GRCm39) |
R580W |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,099,445 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,579,812 (GRCm39) |
I429L |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,567,292 (GRCm39) |
D431G |
possibly damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,828 (GRCm39) |
T429A |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,539 (GRCm39) |
Y110N |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,135 (GRCm39) |
A1398T |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,973 (GRCm39) |
M358K |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,141,982 (GRCm39) |
L354R |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,458 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or5g25 |
G |
A |
2: 85,478,504 (GRCm39) |
R54* |
probably null |
Het |
| Or7e173 |
A |
C |
9: 19,938,639 (GRCm39) |
S198R |
probably benign |
Het |
| Otof |
A |
G |
5: 30,528,894 (GRCm39) |
F1838S |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,675,533 (GRCm39) |
T1071I |
possibly damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,794 (GRCm39) |
D342G |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,585 (GRCm39) |
L585P |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,114,505 (GRCm39) |
S469R |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,197,314 (GRCm39) |
F87L |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,145 (GRCm39) |
M152L |
probably benign |
Het |
| Rasa1 |
C |
T |
13: 85,436,732 (GRCm39) |
A99T |
unknown |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,132 (GRCm39) |
N760S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,669,898 (GRCm39) |
M232K |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,389 (GRCm39) |
H744Y |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,282,325 (GRCm39) |
S50P |
probably damaging |
Het |
| Slc25a36 |
A |
C |
9: 96,982,233 (GRCm39) |
L34R |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,401,003 (GRCm39) |
I127F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,939,978 (GRCm39) |
L175P |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,771 (GRCm39) |
T73A |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,680,268 (GRCm39) |
|
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,077,309 (GRCm39) |
E819V |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,290,809 (GRCm39) |
A181T |
probably benign |
Het |
| Trbj1-1 |
A |
G |
6: 41,510,830 (GRCm39) |
R11G |
|
Het |
| Ubash3b |
A |
C |
9: 41,072,877 (GRCm39) |
I12S |
unknown |
Het |
| Usp37 |
T |
C |
1: 74,489,699 (GRCm39) |
K828E |
probably damaging |
Het |
| Usp8 |
G |
C |
2: 126,561,944 (GRCm39) |
S46T |
unknown |
Het |
| Zfp418 |
A |
G |
7: 7,184,408 (GRCm39) |
T124A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,803 (GRCm39) |
T92A |
probably benign |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ccdc33
|
APN |
9 |
57,977,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL01403:Ccdc33
|
APN |
9 |
58,024,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Ccdc33
|
APN |
9 |
58,024,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL01714:Ccdc33
|
APN |
9 |
57,937,153 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02028:Ccdc33
|
APN |
9 |
57,983,861 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02158:Ccdc33
|
APN |
9 |
57,937,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02174:Ccdc33
|
APN |
9 |
57,940,938 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02805:Ccdc33
|
APN |
9 |
58,005,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0276:Ccdc33
|
UTSW |
9 |
57,965,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0537:Ccdc33
|
UTSW |
9 |
58,024,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Ccdc33
|
UTSW |
9 |
57,989,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0789:Ccdc33
|
UTSW |
9 |
58,024,497 (GRCm39) |
splice site |
probably benign |
|
|
R0791:Ccdc33
|
UTSW |
9 |
57,936,046 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0920:Ccdc33
|
UTSW |
9 |
57,940,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1541:Ccdc33
|
UTSW |
9 |
58,024,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Ccdc33
|
UTSW |
9 |
58,024,729 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1857:Ccdc33
|
UTSW |
9 |
57,939,991 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1976:Ccdc33
|
UTSW |
9 |
58,024,445 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Ccdc33
|
UTSW |
9 |
58,024,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2044:Ccdc33
|
UTSW |
9 |
57,938,395 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2224:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Ccdc33
|
UTSW |
9 |
57,983,913 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3899:Ccdc33
|
UTSW |
9 |
57,940,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,977,155 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4703:Ccdc33
|
UTSW |
9 |
57,940,953 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4705:Ccdc33
|
UTSW |
9 |
58,024,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4790:Ccdc33
|
UTSW |
9 |
57,937,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4817:Ccdc33
|
UTSW |
9 |
57,974,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4879:Ccdc33
|
UTSW |
9 |
57,974,839 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4931:Ccdc33
|
UTSW |
9 |
57,977,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc33
|
UTSW |
9 |
58,025,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ccdc33
|
UTSW |
9 |
57,940,267 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5327:Ccdc33
|
UTSW |
9 |
57,993,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5528:Ccdc33
|
UTSW |
9 |
57,936,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5534:Ccdc33
|
UTSW |
9 |
58,024,450 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5786:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5844:Ccdc33
|
UTSW |
9 |
57,940,489 (GRCm39) |
splice site |
probably benign |
|
|
R5975:Ccdc33
|
UTSW |
9 |
58,024,761 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6120:Ccdc33
|
UTSW |
9 |
57,993,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Ccdc33
|
UTSW |
9 |
58,009,201 (GRCm39) |
splice site |
probably null |
|
|
R6363:Ccdc33
|
UTSW |
9 |
58,021,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6610:Ccdc33
|
UTSW |
9 |
57,976,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6767:Ccdc33
|
UTSW |
9 |
57,940,527 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7072:Ccdc33
|
UTSW |
9 |
58,019,267 (GRCm39) |
makesense |
probably null |
|
|
R7121:Ccdc33
|
UTSW |
9 |
57,988,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Ccdc33
|
UTSW |
9 |
57,941,456 (GRCm39) |
splice site |
probably null |
|
|
R7239:Ccdc33
|
UTSW |
9 |
57,940,192 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7656:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7868:Ccdc33
|
UTSW |
9 |
57,976,374 (GRCm39) |
missense |
probably benign |
|
|
R8215:Ccdc33
|
UTSW |
9 |
57,939,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9139:Ccdc33
|
UTSW |
9 |
57,983,842 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9204:Ccdc33
|
UTSW |
9 |
57,938,388 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9297:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9318:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9361:Ccdc33
|
UTSW |
9 |
58,024,908 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9664:Ccdc33
|
UTSW |
9 |
57,993,855 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF003:Ccdc33
|
UTSW |
9 |
57,965,574 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1176:Ccdc33
|
UTSW |
9 |
58,024,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ccdc33
|
UTSW |
9 |
58,025,868 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGAGAGTCTACCCAAGAG -3'
(R):5'- CACCATGGAAGGACAGGTTC -3'
Sequencing Primer
(F):5'- AAGGGGGTCACACCTTCATTC -3'
(R):5'- GAAGGACAGGTTCAAAGTCTCTCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation