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 |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58024908 bp (GRCm39)
|
| 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: 121,361,060 (GRCm39) |
A12T |
unknown |
Het |
| Aasdh |
T |
A |
5: 77,030,225 (GRCm39) |
T792S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,805,824 (GRCm39) |
L49Q |
probably damaging |
Het |
| Adcy3 |
G |
T |
12: 4,259,366 (GRCm39) |
R881L |
possibly damaging |
Het |
| Alox15 |
T |
G |
11: 70,241,679 (GRCm39) |
K67N |
probably damaging |
Het |
| Amotl1 |
C |
T |
9: 14,504,677 (GRCm39) |
R177Q |
probably benign |
Het |
| Ankrd34c |
T |
A |
9: 89,612,183 (GRCm39) |
I53F |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,658 (GRCm39) |
F932Y |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,515 (GRCm39) |
M281V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,726,521 (GRCm39) |
I3250N |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 94,061,646 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
A |
8: 105,564,039 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,479,654 (GRCm39) |
D1033V |
probably damaging |
Het |
| Cntln |
G |
T |
4: 84,968,151 (GRCm39) |
R790I |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,803,877 (GRCm39) |
V1656A |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,126,991 (GRCm39) |
S907P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,068,259 (GRCm39) |
D610V |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,896,524 (GRCm39) |
T4291I |
probably benign |
Het |
| Eya4 |
C |
A |
10: 22,985,766 (GRCm39) |
G579W |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,400,076 (GRCm39) |
I342M |
probably benign |
Het |
| Fhdc1 |
A |
C |
3: 84,356,140 (GRCm39) |
C435G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
T |
G |
5: 96,924,557 (GRCm39) |
L3666R |
probably damaging |
Het |
| Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
| Gtsf2 |
C |
T |
15: 103,348,066 (GRCm39) |
W148* |
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,714,429 (GRCm39) |
K466E |
possibly damaging |
Het |
| Higd2a |
T |
A |
13: 54,738,120 (GRCm39) |
D14E |
probably benign |
Het |
| Hlcs |
C |
T |
16: 93,939,799 (GRCm39) |
V513M |
probably benign |
Het |
| Ido1 |
T |
C |
8: 25,079,601 (GRCm39) |
T148A |
probably benign |
Het |
| Ighv1-5 |
T |
A |
12: 114,476,985 (GRCm39) |
T106S |
probably damaging |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,090 (GRCm39) |
T95A |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
G |
13: 9,199,937 (GRCm39) |
F278V |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,635,076 (GRCm39) |
R225H |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,252 (GRCm39) |
Y378H |
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,341,775 (GRCm39) |
C42S |
probably damaging |
Het |
| Or2y10 |
A |
G |
11: 49,455,303 (GRCm39) |
K185R |
probably damaging |
Het |
| Pdlim2 |
T |
G |
14: 70,402,190 (GRCm39) |
T309P |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prodh |
C |
T |
16: 17,898,834 (GRCm39) |
C207Y |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,229 (GRCm39) |
L168Q |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,228,132 (GRCm39) |
S393A |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,492 (GRCm39) |
Q189R |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,001,021 (GRCm39) |
L372S |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,037,144 (GRCm39) |
E699D |
probably benign |
Het |
| Speer1m |
C |
T |
5: 11,970,646 (GRCm39) |
T105M |
|
Het |
| Syt6 |
C |
A |
3: 103,482,679 (GRCm39) |
|
probably benign |
Het |
| Tent5b |
G |
T |
4: 133,213,461 (GRCm39) |
A111S |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,246 (GRCm39) |
E969G |
possibly damaging |
Het |
| Tie1 |
A |
C |
4: 118,336,829 (GRCm39) |
H632Q |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,417 (GRCm39) |
W372R |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,606 (GRCm39) |
V33A |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,575,886 (GRCm39) |
N324K |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,652,822 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
C |
6: 116,239,433 (GRCm39) |
*1335Q |
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,081,063 (GRCm39) |
T445I |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,122,737 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,624,364 (GRCm39) |
L244P |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,690,887 (GRCm39) |
I103F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,427,999 (GRCm39) |
T243S |
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 |
|
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 |
|
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'- TTGCCACAATAGCGGTACAG -3'
(R):5'- TATAGGCCTCCTCACTCTGGTG -3'
Sequencing Primer
(F):5'- CACAATAGCGGTACAGGTCTTCATG -3'
(R):5'- CTCACTCTGGTGGGGTCACATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation