Incidental Mutation 'R4879:Ccdc33'
| ID |
375140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
042488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57974839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 345
(I345F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042205
AA Change: I345F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: I345F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
| 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 |
possibly damaging
Transcript: ENSMUST00000119665
AA Change: I345F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: I345F
| 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 |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215944
|
| Meta Mutation Damage Score |
0.1695 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
97% (86/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,526 (GRCm39) |
Y541F |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,911,083 (GRCm39) |
V136E |
probably benign |
Het |
| Aftph |
A |
G |
11: 20,648,311 (GRCm39) |
|
probably null |
Het |
| Ambra1 |
C |
T |
2: 91,603,039 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,690,415 (GRCm39) |
D73G |
probably benign |
Het |
| Asap3 |
G |
A |
4: 135,969,975 (GRCm39) |
D778N |
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,245,918 (GRCm39) |
Y591* |
probably null |
Het |
| Blk |
T |
C |
14: 63,613,414 (GRCm39) |
T365A |
probably benign |
Het |
| C4b |
G |
T |
17: 34,962,621 (GRCm39) |
S27Y |
probably damaging |
Het |
| C6 |
G |
T |
15: 4,833,129 (GRCm39) |
|
probably null |
Het |
| Cetn3 |
T |
A |
13: 81,940,268 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,244,389 (GRCm39) |
I387L |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,984 (GRCm39) |
C102R |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,456,321 (GRCm39) |
I789T |
probably benign |
Het |
| Cyp2c55 |
CA |
C |
19: 39,030,522 (GRCm39) |
|
probably null |
Het |
| Defa40 |
T |
A |
8: 21,740,380 (GRCm39) |
L62Q |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,022,534 (GRCm39) |
A1624V |
probably damaging |
Het |
| Dnah1 |
T |
G |
14: 31,022,705 (GRCm39) |
E1144A |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,201 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,367,517 (GRCm39) |
T1794I |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,953,019 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,971,282 (GRCm39) |
M778K |
probably benign |
Het |
| Fbxw10 |
G |
T |
11: 62,738,573 (GRCm39) |
A156S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,460,805 (GRCm39) |
F2632Y |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,534,628 (GRCm39) |
K160E |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,943,029 (GRCm39) |
K295E |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,370,119 (GRCm39) |
C465* |
probably null |
Het |
| Hoxb4 |
A |
G |
11: 96,211,014 (GRCm39) |
I205V |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Il36a |
A |
G |
2: 24,106,032 (GRCm39) |
N29S |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,011 (GRCm39) |
S292G |
probably benign |
Het |
| Itgb5 |
G |
C |
16: 33,696,348 (GRCm39) |
G180R |
probably damaging |
Het |
| Josd1-ps |
T |
C |
7: 27,648,768 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnip4 |
T |
C |
5: 48,567,207 (GRCm39) |
D120G |
possibly damaging |
Het |
| Kin |
A |
G |
2: 10,085,455 (GRCm39) |
D5G |
probably benign |
Het |
| Lrrtm2 |
C |
A |
18: 35,346,372 (GRCm39) |
G310V |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,186 (GRCm39) |
|
probably benign |
Het |
| Mepce |
C |
A |
5: 137,783,544 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
T |
A |
9: 108,691,114 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,937 (GRCm39) |
Q866L |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,183,962 (GRCm39) |
T3S |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,040 (GRCm39) |
H65Q |
possibly damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,107 (GRCm39) |
C241* |
probably null |
Het |
| Orai1 |
T |
C |
5: 123,149,894 (GRCm39) |
|
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,089 (GRCm39) |
C24Y |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,613,959 (GRCm39) |
D635N |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,375,322 (GRCm39) |
I567V |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,328,390 (GRCm39) |
S485P |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,087 (GRCm39) |
Y356C |
probably damaging |
Het |
| Sdcbp |
T |
C |
4: 6,381,056 (GRCm39) |
I67T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,679 (GRCm39) |
I537T |
probably benign |
Het |
| Slc66a1 |
A |
T |
4: 139,029,095 (GRCm39) |
|
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,974 (GRCm39) |
C442R |
probably damaging |
Het |
| Smpd5 |
A |
G |
15: 76,179,070 (GRCm39) |
H146R |
possibly damaging |
Het |
| Snai2 |
A |
G |
16: 14,524,605 (GRCm39) |
Y37C |
probably benign |
Het |
| Snapc4 |
C |
T |
2: 26,256,004 (GRCm39) |
S840N |
possibly damaging |
Het |
| Stpg2 |
T |
C |
3: 138,921,134 (GRCm39) |
I113T |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 55,925,125 (GRCm39) |
|
probably null |
Het |
| Tfg |
A |
T |
16: 56,521,520 (GRCm39) |
S39R |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,116,236 (GRCm39) |
S1330T |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,321 (GRCm39) |
T322A |
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,888,691 (GRCm39) |
Y291C |
probably damaging |
Het |
| Trcg1 |
A |
G |
9: 57,154,003 (GRCm39) |
D658G |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,782,304 (GRCm39) |
V143I |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,084 (GRCm39) |
K1691E |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,908,562 (GRCm39) |
M77K |
possibly damaging |
Het |
| Tubb2a |
A |
T |
13: 34,258,572 (GRCm39) |
M406K |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,717,751 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
C |
A |
5: 87,479,144 (GRCm39) |
R268L |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,323,410 (GRCm39) |
M982R |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,102 (GRCm39) |
K370N |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,739,355 (GRCm39) |
|
probably benign |
Het |
| Vps11 |
A |
C |
9: 44,264,597 (GRCm39) |
C660G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,926,338 (GRCm39) |
H1137R |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,188,322 (GRCm39) |
Y193H |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,009,444 (GRCm39) |
V470D |
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 |
|
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 |
|
R9280:Ccdc33
|
UTSW |
9 |
57,965,549 (GRCm39) |
missense |
probably benign |
|
|
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'- CCTTCAGAGCTTTCAACTGAAC -3'
(R):5'- GTGCCAGTCAGGTGTGAATG -3'
Sequencing Primer
(F):5'- GAGCTTTCAACTGAACCAATTGACTC -3'
(R):5'- CCATGTGGAAGCAGGGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation