Incidental Mutation 'R7656:Ccdc33'
ID |
591206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc33
|
Ensembl Gene |
ENSMUSG00000037716 |
Gene Name |
coiled-coil domain containing 33 |
Synonyms |
LOC382077, 4930535E21Rik |
MMRRC Submission |
045732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7656 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58025748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 94
(R94W)
|
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: R94W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098682
AA Change: R94W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096279 Gene: ENSMUSG00000037716 AA Change: R94W
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 null
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 null
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: R94W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
Efhc1 |
A |
G |
1: 21,031,281 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,853,462 (GRCm39) |
K18* |
probably null |
Het |
Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
Ncapd3 |
T |
A |
9: 26,966,801 (GRCm39) |
I545N |
possibly damaging |
Het |
Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,768,934 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
T |
9: 101,088,911 (GRCm39) |
F471I |
probably benign |
Het |
Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,659,090 (GRCm39) |
E134G |
probably damaging |
Het |
Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
Spag9 |
A |
C |
11: 93,887,389 (GRCm39) |
H98P |
possibly damaging |
Het |
Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
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 |
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'- CTTACAGGACCAGCGTTTGC -3'
(R):5'- ACCTGGAGTTTGAGATCTTGAG -3'
Sequencing Primer
(F):5'- ACCAGCGTTTGCCCAAG -3'
(R):5'- AGATCTTGAGTGTGGGATTTAATGAG -3'
|
Posted On |
2019-11-12 |