Incidental Mutation 'R7239:Ccdc33'
| ID |
563085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
045346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58028677-58118823 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 58032909 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 713
(Q713*)
|
| 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 null
Transcript: ENSMUST00000042205
AA Change: Q528*
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: Q528*
| 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 null
Transcript: ENSMUST00000098682
AA Change: Q713*
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Q713*
| 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 null
Transcript: ENSMUST00000119665
AA Change: Q527*
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: Q527*
| 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 null
Transcript: ENSMUST00000215944
AA Change: Q713*
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,653,518 (GRCm38) |
V144A |
probably damaging |
Het |
| 4930402H24Rik |
C |
A |
2: 130,806,788 (GRCm38) |
R258L |
unknown |
Het |
| Abca5 |
A |
T |
11: 110,326,704 (GRCm38) |
Y109N |
possibly damaging |
Het |
| Abcb5 |
T |
C |
12: 118,928,725 (GRCm38) |
Q433R |
probably benign |
Het |
| Adamts7 |
G |
A |
9: 90,186,557 (GRCm38) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,476,612 (GRCm38) |
D3746G |
possibly damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,988,950 (GRCm38) |
S159L |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,517,376 (GRCm38) |
C377S |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 25,000,704 (GRCm38) |
P77L |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,754 (GRCm38) |
D257G |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,406,171 (GRCm38) |
N52K |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,710,082 (GRCm38) |
M562T |
probably benign |
Het |
| Cd96 |
A |
T |
16: 46,109,114 (GRCm38) |
L156Q |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,711,455 (GRCm38) |
T231A |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,872,850 (GRCm38) |
Q151L |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,231,677 (GRCm38) |
V1629M |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,854,380 (GRCm38) |
D601N |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,768,265 (GRCm38) |
V20M |
probably damaging |
Het |
| Eny2 |
A |
C |
15: 44,433,854 (GRCm38) |
D52A |
probably benign |
Het |
| Esp36 |
T |
C |
17: 38,417,241 (GRCm38) |
R93G |
possibly damaging |
Het |
| Fam227a |
A |
G |
15: 79,634,062 (GRCm38) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 38,983,840 (GRCm38) |
H3880Q |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,605,530 (GRCm38) |
V334E |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,095,964 (GRCm38) |
Q406R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,552,077 (GRCm38) |
N1092S |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,645,251 (GRCm38) |
T82K |
probably benign |
Het |
| Gnas |
G |
C |
2: 174,298,615 (GRCm38) |
G252R |
unknown |
Het |
| Gpatch2l |
A |
G |
12: 86,260,575 (GRCm38) |
|
probably null |
Het |
| Hist1h2ac |
A |
T |
13: 23,683,610 (GRCm38) |
I103N |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,652,950 (GRCm38) |
V204A |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,641,244 (GRCm38) |
L119P |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,952,194 (GRCm38) |
E56K |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,866,768 (GRCm38) |
I474T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,161,186 (GRCm38) |
V556A |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,204,255 (GRCm38) |
M382K |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,315,784 (GRCm38) |
V199A |
possibly damaging |
Het |
| Lpcat4 |
T |
A |
2: 112,242,707 (GRCm38) |
F200I |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,004,713 (GRCm38) |
T2282A |
|
Het |
| Lrrk1 |
T |
C |
7: 66,262,155 (GRCm38) |
T1886A |
probably benign |
Het |
| Meis2 |
T |
C |
2: 116,059,003 (GRCm38) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,700,176 (GRCm38) |
R1043K |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,604,601 (GRCm38) |
R156L |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,426,209 (GRCm38) |
H804Q |
probably damaging |
Het |
| Ndst3 |
T |
G |
3: 123,606,906 (GRCm38) |
E450D |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,292,135 (GRCm38) |
|
probably null |
Het |
| Npy |
A |
G |
6: 49,823,607 (GRCm38) |
N4D |
probably benign |
Het |
| Olfr855 |
A |
T |
9: 19,585,191 (GRCm38) |
Y218F |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,008,748 (GRCm38) |
S18G |
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 36,998,498 (GRCm38) |
F207V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,444,644 (GRCm38) |
I692F |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,416,149 (GRCm38) |
V200E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,493,981 (GRCm38) |
L345I |
probably benign |
Het |
| Psd2 |
G |
A |
18: 35,980,419 (GRCm38) |
A315T |
probably damaging |
Het |
| Rnf111 |
G |
A |
9: 70,469,373 (GRCm38) |
T328I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,458,788 (GRCm38) |
L3825P |
|
Het |
| Rtl1 |
C |
T |
12: 109,592,475 (GRCm38) |
V977I |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,277,656 (GRCm38) |
|
probably null |
Het |
| Slc25a2 |
G |
T |
18: 37,637,695 (GRCm38) |
N260K |
probably benign |
Het |
| Sprtn |
T |
C |
8: 124,900,244 (GRCm38) |
V121A |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,428,016 (GRCm38) |
L260W |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,588,781 (GRCm38) |
R406C |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,133,171 (GRCm38) |
R6G |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,735,813 (GRCm38) |
V526I |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,553,496 (GRCm38) |
R106H |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,234,180 (GRCm38) |
F405L |
probably damaging |
Het |
| Trbv13-1 |
C |
A |
6: 41,116,391 (GRCm38) |
T87K |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,574,786 (GRCm38) |
A87E |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,399,157 (GRCm38) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,881,328 (GRCm38) |
R8290C |
unknown |
Het |
| Ttn |
T |
C |
2: 76,787,290 (GRCm38) |
D16279G |
probably damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,254,731 (GRCm38) |
I14L |
probably benign |
Het |
| Vmn1r13 |
A |
T |
6: 57,210,626 (GRCm38) |
M257L |
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 26,267,177 (GRCm38) |
P116L |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,470,591 (GRCm38) |
T367A |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,911,756 (GRCm38) |
C235S |
probably damaging |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ccdc33
|
APN |
9 |
58,069,974 (GRCm38) |
splice site |
probably benign |
|
|
IGL01403:Ccdc33
|
APN |
9 |
58,117,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01411:Ccdc33
|
APN |
9 |
58,117,636 (GRCm38) |
splice site |
probably benign |
|
|
IGL01714:Ccdc33
|
APN |
9 |
58,029,870 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02028:Ccdc33
|
APN |
9 |
58,076,578 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02158:Ccdc33
|
APN |
9 |
58,030,419 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02174:Ccdc33
|
APN |
9 |
58,033,655 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL02805:Ccdc33
|
APN |
9 |
58,098,591 (GRCm38) |
missense |
probably benign |
0.43 |
|
R0276:Ccdc33
|
UTSW |
9 |
58,058,392 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0537:Ccdc33
|
UTSW |
9 |
58,117,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0737:Ccdc33
|
UTSW |
9 |
58,082,048 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0789:Ccdc33
|
UTSW |
9 |
58,117,214 (GRCm38) |
splice site |
probably benign |
|
|
R0791:Ccdc33
|
UTSW |
9 |
58,028,763 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0920:Ccdc33
|
UTSW |
9 |
58,033,672 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1541:Ccdc33
|
UTSW |
9 |
58,117,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Ccdc33
|
UTSW |
9 |
58,117,446 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1857:Ccdc33
|
UTSW |
9 |
58,032,708 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1976:Ccdc33
|
UTSW |
9 |
58,117,162 (GRCm38) |
nonsense |
probably null |
|
|
R1982:Ccdc33
|
UTSW |
9 |
58,117,168 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2044:Ccdc33
|
UTSW |
9 |
58,031,112 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2224:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2225:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2227:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2369:Ccdc33
|
UTSW |
9 |
58,076,630 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3899:Ccdc33
|
UTSW |
9 |
58,032,917 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4468:Ccdc33
|
UTSW |
9 |
58,069,872 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4468:Ccdc33
|
UTSW |
9 |
58,029,952 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4703:Ccdc33
|
UTSW |
9 |
58,033,670 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4705:Ccdc33
|
UTSW |
9 |
58,117,557 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4790:Ccdc33
|
UTSW |
9 |
58,029,957 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4817:Ccdc33
|
UTSW |
9 |
58,067,535 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4879:Ccdc33
|
UTSW |
9 |
58,067,556 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4931:Ccdc33
|
UTSW |
9 |
58,069,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc33
|
UTSW |
9 |
58,118,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Ccdc33
|
UTSW |
9 |
58,032,984 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5327:Ccdc33
|
UTSW |
9 |
58,086,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5528:Ccdc33
|
UTSW |
9 |
58,028,795 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5534:Ccdc33
|
UTSW |
9 |
58,117,167 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5786:Ccdc33
|
UTSW |
9 |
58,029,952 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5844:Ccdc33
|
UTSW |
9 |
58,033,206 (GRCm38) |
splice site |
probably benign |
|
|
R5975:Ccdc33
|
UTSW |
9 |
58,117,478 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6120:Ccdc33
|
UTSW |
9 |
58,086,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6256:Ccdc33
|
UTSW |
9 |
58,101,918 (GRCm38) |
splice site |
probably null |
|
|
R6363:Ccdc33
|
UTSW |
9 |
58,114,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6610:Ccdc33
|
UTSW |
9 |
58,069,136 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6767:Ccdc33
|
UTSW |
9 |
58,033,244 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7072:Ccdc33
|
UTSW |
9 |
58,111,984 (GRCm38) |
makesense |
probably null |
|
|
R7121:Ccdc33
|
UTSW |
9 |
58,080,884 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7182:Ccdc33
|
UTSW |
9 |
58,034,173 (GRCm38) |
splice site |
probably null |
|
|
R7655:Ccdc33
|
UTSW |
9 |
58,118,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7656:Ccdc33
|
UTSW |
9 |
58,118,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7868:Ccdc33
|
UTSW |
9 |
58,069,091 (GRCm38) |
missense |
probably benign |
|
|
R8215:Ccdc33
|
UTSW |
9 |
58,032,712 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9139:Ccdc33
|
UTSW |
9 |
58,076,559 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9204:Ccdc33
|
UTSW |
9 |
58,031,105 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9280:Ccdc33
|
UTSW |
9 |
58,058,266 (GRCm38) |
missense |
probably benign |
|
|
R9297:Ccdc33
|
UTSW |
9 |
58,086,593 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9318:Ccdc33
|
UTSW |
9 |
58,086,593 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9361:Ccdc33
|
UTSW |
9 |
58,117,625 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9664:Ccdc33
|
UTSW |
9 |
58,086,572 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
RF003:Ccdc33
|
UTSW |
9 |
58,058,291 (GRCm38) |
missense |
probably benign |
0.18 |
|
Z1176:Ccdc33
|
UTSW |
9 |
58,117,416 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Ccdc33
|
UTSW |
9 |
58,118,585 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCACCCATGATAGGCTTC -3'
(R):5'- GCTGGAGTAACTCTCATGGATC -3'
Sequencing Primer
(F):5'- CATGATAGGCTTCCCCTGTGG -3'
(R):5'- ATGGATCCCATGTGTGCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation