Incidental Mutation 'R7868:Ccdc33'
| ID |
607921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
045920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58028677-58118823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58069091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 547
(I547F)
|
| 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: I338F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: I338F
| 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: I547F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: I547F
| 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: I338F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: I338F
| 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: I547F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,587,430 (GRCm38) |
|
probably null |
Het |
| Acacb |
A |
G |
5: 114,248,227 (GRCm38) |
E2274G |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,532,641 (GRCm38) |
I21T |
possibly damaging |
Het |
| Aldh3b3 |
C |
T |
19: 3,968,492 (GRCm38) |
R57* |
probably null |
Het |
| Arhgap22 |
T |
C |
14: 33,364,516 (GRCm38) |
|
probably benign |
Het |
| B4galt5 |
G |
T |
2: 167,301,420 (GRCm38) |
Y361* |
probably null |
Het |
| BC005537 |
C |
T |
13: 24,803,399 (GRCm38) |
R7W |
possibly damaging |
Het |
| Bsn |
G |
T |
9: 108,114,899 (GRCm38) |
A1218D |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 77,108,412 (GRCm38) |
D283G |
probably damaging |
Het |
| Chdh |
A |
G |
14: 30,031,331 (GRCm38) |
N66D |
probably benign |
Het |
| Ckap2l |
T |
A |
2: 129,285,289 (GRCm38) |
Q323L |
probably damaging |
Het |
| Cpvl |
T |
A |
6: 53,974,760 (GRCm38) |
I13F |
possibly damaging |
Het |
| Creb3l2 |
G |
A |
6: 37,335,869 (GRCm38) |
P410L |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,969,864 (GRCm38) |
V960A |
probably benign |
Het |
| Dopey1 |
G |
A |
9: 86,501,984 (GRCm38) |
|
probably null |
Het |
| Dpysl5 |
A |
T |
5: 30,745,416 (GRCm38) |
D64V |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,114,099 (GRCm38) |
Q1041R |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,888,957 (GRCm38) |
V242A |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,146,542 (GRCm38) |
R341* |
probably null |
Het |
| Fbxo32 |
A |
T |
15: 58,214,590 (GRCm38) |
W8R |
probably damaging |
Het |
| Fpgs |
T |
C |
2: 32,683,460 (GRCm38) |
N455D |
probably damaging |
Het |
| Fsip1 |
G |
A |
2: 118,136,486 (GRCm38) |
Q453* |
probably null |
Het |
| Gm13103 |
A |
G |
4: 143,851,584 (GRCm38) |
H138R |
possibly damaging |
Het |
| Gm8257 |
T |
A |
14: 44,657,297 (GRCm38) |
E12V |
probably damaging |
Het |
| Gm8300 |
G |
T |
12: 87,516,618 (GRCm38) |
|
probably benign |
Het |
| Kdm3a |
A |
T |
6: 71,595,489 (GRCm38) |
D1029E |
probably benign |
Het |
| Lipo4 |
T |
G |
19: 33,511,568 (GRCm38) |
Q205P |
possibly damaging |
Het |
| Lpar6 |
A |
T |
14: 73,238,995 (GRCm38) |
N132I |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,449,234 (GRCm38) |
G866S |
|
Het |
| Man2c1 |
T |
C |
9: 57,137,986 (GRCm38) |
F460L |
probably damaging |
Het |
| Map3k7cl |
T |
C |
16: 87,581,212 (GRCm38) |
V72A |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,999,962 (GRCm38) |
|
probably null |
Het |
| Matn1 |
A |
G |
4: 130,955,000 (GRCm38) |
E496G |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,956,855 (GRCm38) |
V76E |
possibly damaging |
Het |
| Mtpap |
A |
G |
18: 4,380,673 (GRCm38) |
E117G |
probably damaging |
Het |
| Muc3 |
T |
A |
5: 137,146,777 (GRCm38) |
N15I |
|
Het |
| Mut |
C |
T |
17: 40,947,043 (GRCm38) |
R367C |
probably damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,460,447 (GRCm38) |
Y275H |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,448,052 (GRCm38) |
H56Q |
possibly damaging |
Het |
| Nrde2 |
G |
A |
12: 100,131,187 (GRCm38) |
R785C |
possibly damaging |
Het |
| Nsun4 |
C |
A |
4: 116,034,132 (GRCm38) |
C350F |
probably benign |
Het |
| Olfr1410 |
G |
A |
1: 92,608,515 (GRCm38) |
G226D |
possibly damaging |
Het |
| Olfr229 |
T |
A |
9: 39,909,986 (GRCm38) |
F61Y |
probably benign |
Het |
| Olfr417 |
A |
G |
1: 174,368,985 (GRCm38) |
T23A |
probably benign |
Het |
| Olfr560 |
A |
G |
7: 102,753,605 (GRCm38) |
L108P |
possibly damaging |
Het |
| Pdcd7 |
T |
A |
9: 65,346,979 (GRCm38) |
C280S |
probably damaging |
Het |
| Peak1 |
G |
T |
9: 56,260,470 (GRCm38) |
T58K |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,232,609 (GRCm38) |
E573G |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,000,964 (GRCm38) |
A1018T |
not run |
Het |
| Ralgapa1 |
G |
T |
12: 55,612,638 (GRCm38) |
D2032E |
probably benign |
Het |
| Rapgef4 |
T |
A |
2: 72,201,137 (GRCm38) |
N488K |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,761,185 (GRCm38) |
D420G |
probably benign |
Het |
| Smyd5 |
T |
A |
6: 85,444,315 (GRCm38) |
L337Q |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,906,380 (GRCm38) |
R2764H |
possibly damaging |
Het |
| Tex35 |
A |
T |
1: 157,099,338 (GRCm38) |
Y195* |
probably null |
Het |
| Tln2 |
T |
C |
9: 67,348,226 (GRCm38) |
K690E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,302,286 (GRCm38) |
T691A |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,900,332 (GRCm38) |
F246I |
possibly damaging |
Het |
| Ttn |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
2: 76,915,806 (GRCm38) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,460,033 (GRCm38) |
Y669F |
unknown |
Het |
| Uox |
A |
C |
3: 146,610,274 (GRCm38) |
D12A |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 54,696,267 (GRCm38) |
|
probably null |
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 |
|
|
R7239:Ccdc33
|
UTSW |
9 |
58,032,909 (GRCm38) |
nonsense |
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 |
|
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'- CCTGATAGAGGCTGCTAAGAAG -3'
(R):5'- TCACTGACAGGACCTGATTTGG -3'
Sequencing Primer
(F):5'- AGCTACATTTACCCGGATGG -3'
(R):5'- GACAGGACCTGATTTGGCCTTTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation