Incidental Mutation 'R9361:Ccdc33'
| ID |
708704 |
| 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 # |
R9361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58028677-58118823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58117625 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 106
(C106Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098681]
[ENSMUST00000098682]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098681
AA Change: C106Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098682
AA Change: C106Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: C106Y
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000215944
AA Change: C106Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
C |
T |
8: 120,634,321 (GRCm38) |
A12T |
unknown |
Het |
| 2810474O19Rik |
T |
G |
6: 149,326,634 (GRCm38) |
S393A |
possibly damaging |
Het |
| 4933402N22Rik |
C |
T |
5: 11,920,679 (GRCm38) |
T105M |
|
Het |
| A430089I19Rik |
G |
T |
5: 94,303,142 (GRCm38) |
P375H |
probably damaging |
Het |
| Aasdh |
T |
A |
5: 76,882,378 (GRCm38) |
T792S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,928,625 (GRCm38) |
L49Q |
probably damaging |
Het |
| Adcy3 |
G |
T |
12: 4,209,366 (GRCm38) |
R881L |
possibly damaging |
Het |
| Alox15 |
T |
G |
11: 70,350,853 (GRCm38) |
K67N |
probably damaging |
Het |
| Amotl1 |
C |
T |
9: 14,593,381 (GRCm38) |
R177Q |
probably benign |
Het |
| Ankrd34c |
T |
A |
9: 89,730,130 (GRCm38) |
I53F |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,658 (GRCm38) |
F932Y |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,907,343 (GRCm38) |
M281V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,849,322 (GRCm38) |
I3250N |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 93,335,018 (GRCm38) |
|
probably null |
Het |
| Ces2b |
G |
A |
8: 104,837,407 (GRCm38) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,585,861 (GRCm38) |
D1033V |
probably damaging |
Het |
| Cntln |
G |
T |
4: 85,049,914 (GRCm38) |
R790I |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,896,593 (GRCm38) |
V1656A |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,761,264 (GRCm38) |
D610V |
probably damaging |
Het |
| Eya4 |
C |
A |
10: 23,109,867 (GRCm38) |
G579W |
probably damaging |
Het |
| Fam46b |
G |
T |
4: 133,486,150 (GRCm38) |
A111S |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,492,794 (GRCm38) |
I342M |
probably benign |
Het |
| Fhdc1 |
A |
C |
3: 84,448,833 (GRCm38) |
C435G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm38) |
G125D |
probably benign |
Het |
| Fras1 |
T |
G |
5: 96,776,698 (GRCm38) |
L3666R |
probably damaging |
Het |
| Gm11639 |
C |
T |
11: 105,005,698 (GRCm38) |
T4291I |
probably benign |
Het |
| Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
| Gtsf2 |
C |
T |
15: 103,439,639 (GRCm38) |
W148* |
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,737,431 (GRCm38) |
K466E |
possibly damaging |
Het |
| Higd2a |
T |
A |
13: 54,590,307 (GRCm38) |
D14E |
probably benign |
Het |
| Hlcs |
C |
T |
16: 94,138,940 (GRCm38) |
V513M |
probably benign |
Het |
| Ido1 |
T |
C |
8: 24,589,585 (GRCm38) |
T148A |
probably benign |
Het |
| Ighv1-5 |
T |
A |
12: 114,513,365 (GRCm38) |
T106S |
probably damaging |
Het |
| Igkv4-92 |
T |
C |
6: 68,755,106 (GRCm38) |
T95A |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,189,077 (GRCm38) |
|
probably benign |
Het |
| Larp4b |
T |
G |
13: 9,149,901 (GRCm38) |
F278V |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,814 (GRCm38) |
R225H |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 120,014,771 (GRCm38) |
Y378H |
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,459,722 (GRCm38) |
C42S |
probably damaging |
Het |
| Olfr1380 |
A |
G |
11: 49,564,476 (GRCm38) |
K185R |
probably damaging |
Het |
| Pdlim2 |
T |
G |
14: 70,164,741 (GRCm38) |
T309P |
probably damaging |
Het |
| Prodh |
C |
T |
16: 18,080,970 (GRCm38) |
C207Y |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,055,887 (GRCm38) |
L168Q |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,819,695 (GRCm38) |
|
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,352,067 (GRCm38) |
Q189R |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,143,824 (GRCm38) |
L372S |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,691,744 (GRCm38) |
A100T |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,146,318 (GRCm38) |
E699D |
probably benign |
Het |
| St5 |
A |
G |
7: 109,527,784 (GRCm38) |
S907P |
probably damaging |
Het |
| Syt6 |
C |
A |
3: 103,575,363 (GRCm38) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,685,397 (GRCm38) |
E969G |
possibly damaging |
Het |
| Tie1 |
A |
C |
4: 118,479,632 (GRCm38) |
H632Q |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,746,418 (GRCm38) |
W372R |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 52,770,149 (GRCm38) |
V33A |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,418,543 (GRCm38) |
N324K |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 87,003,614 (GRCm38) |
|
probably null |
Het |
| Washc2 |
T |
C |
6: 116,262,472 (GRCm38) |
*1335Q |
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,191,051 (GRCm38) |
T445I |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 73,974,618 (GRCm38) |
C158R |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,890,437 (GRCm38) |
L244P |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,861,822 (GRCm38) |
I103F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,701,429 (GRCm38) |
T243S |
probably benign |
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 |
|
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 |
|
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'- TTGCCACAATAGCGGTACAG -3'
(R):5'- TATAGGCCTCCTCACTCTGGTG -3'
Sequencing Primer
(F):5'- CACAATAGCGGTACAGGTCTTCATG -3'
(R):5'- CTCACTCTGGTGGGGTCACATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation