Incidental Mutation 'R1976:Ccdc33'
| ID |
221728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
039989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58024445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 227
(Y227*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098681]
[ENSMUST00000098682]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098681
AA Change: Y227*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098682
AA Change: Y227*
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Y227*
| 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: ENSMUST00000128021
|
| SMART Domains |
Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136154
|
| SMART Domains |
Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215944
AA Change: Y227*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,815 (GRCm39) |
V3556A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,854,417 (GRCm39) |
I833V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,217,861 (GRCm39) |
H432L |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,463 (GRCm39) |
I204F |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,262 (GRCm39) |
F486I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,417,449 (GRCm39) |
L429Q |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,377 (GRCm39) |
V730A |
probably damaging |
Het |
| Cdadc1 |
A |
T |
14: 59,811,217 (GRCm39) |
V431E |
probably damaging |
Het |
| Dazap1 |
T |
A |
10: 80,110,454 (GRCm39) |
|
probably null |
Het |
| Dbpht2 |
T |
A |
12: 74,342,635 (GRCm39) |
|
noncoding transcript |
Het |
| Dennd4b |
A |
T |
3: 90,180,362 (GRCm39) |
T742S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,202 (GRCm39) |
E838G |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,045 (GRCm39) |
D1823E |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,906,233 (GRCm39) |
N556K |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,510,477 (GRCm39) |
I392M |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,388,238 (GRCm39) |
M831K |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
C |
7: 33,956,805 (GRCm39) |
N353K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,240,077 (GRCm39) |
936 |
probably benign |
Het |
| Gm4953 |
T |
A |
1: 158,995,923 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
T |
G |
8: 34,170,288 (GRCm39) |
|
probably null |
Het |
| Habp4 |
G |
T |
13: 64,332,420 (GRCm39) |
V344F |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,160,610 (GRCm39) |
D759G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,722,733 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,705,857 (GRCm39) |
V387E |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,389 (GRCm39) |
V319A |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,716 (GRCm39) |
K348N |
possibly damaging |
Het |
| Lsamp |
T |
C |
16: 41,709,430 (GRCm39) |
V103A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,026,195 (GRCm39) |
C538S |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,604,035 (GRCm39) |
S174P |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,099,926 (GRCm39) |
N607S |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,416,891 (GRCm39) |
S3279L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,289,995 (GRCm39) |
E211G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,165,311 (GRCm39) |
M649K |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,896,209 (GRCm39) |
V372A |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,859,668 (GRCm39) |
C288S |
probably benign |
Het |
| Rab23 |
T |
A |
1: 33,763,019 (GRCm39) |
C30S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,344 (GRCm39) |
T797A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,108 (GRCm39) |
D940G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,161,615 (GRCm39) |
E311G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,573 (GRCm39) |
I1598N |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,145,957 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Sprr3 |
T |
A |
3: 92,364,253 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,295 (GRCm39) |
V64D |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,424,336 (GRCm39) |
N483T |
possibly damaging |
Het |
| Trp53 |
C |
T |
11: 69,479,323 (GRCm39) |
T167M |
probably damaging |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,336,720 (GRCm39) |
L148P |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,509,527 (GRCm39) |
E44G |
possibly damaging |
Het |
| Usp40 |
T |
G |
1: 87,906,258 (GRCm39) |
Q659P |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,723 (GRCm39) |
C76R |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,925 (GRCm39) |
G660R |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,691 (GRCm39) |
H749L |
probably damaging |
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 |
|
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 |
|
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'- TTCGTGGAACCTAGAATCCTGAG -3'
(R):5'- TCAGACTGTCAACTGGAACCC -3'
Sequencing Primer
(F):5'- GTGCAATGAACTACTGCTTGC -3'
(R):5'- CAGCCAACCAGAGCTACAGGTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation