Incidental Mutation 'R7655:Ccdc33'
| ID |
591142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
045731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7655 (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 58118465 bp (GRCm38)
|
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
A |
G |
12: 83,992,917 (GRCm38) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,409,332 (GRCm38) |
M237V |
|
Het |
| Arntl2 |
A |
G |
6: 146,806,442 (GRCm38) |
T21A |
probably benign |
Het |
| Atrnl1 |
C |
A |
19: 57,611,379 (GRCm38) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,009,335 (GRCm38) |
K71* |
probably null |
Het |
| Brpf1 |
A |
T |
6: 113,314,874 (GRCm38) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,739,342 (GRCm38) |
D382A |
possibly damaging |
Het |
| Cd244 |
T |
A |
1: 171,577,255 (GRCm38) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 66,171,030 (GRCm38) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,362,450 (GRCm38) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,607,756 (GRCm38) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,859,316 (GRCm38) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,496,005 (GRCm38) |
S2699G |
possibly damaging |
Het |
| Fam206a |
A |
G |
4: 56,804,218 (GRCm38) |
I78V |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,977,542 (GRCm38) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,769,667 (GRCm38) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 30,930,598 (GRCm38) |
|
probably null |
Het |
| Gm15922 |
T |
C |
7: 3,739,282 (GRCm38) |
E82G |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 35,809,099 (GRCm38) |
M1637L |
probably benign |
Het |
| Gm906 |
T |
G |
13: 50,247,086 (GRCm38) |
K401N |
probably benign |
Het |
| Grm5 |
T |
G |
7: 88,130,251 (GRCm38) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,252,560 (GRCm38) |
T157A |
probably damaging |
Het |
| Luc7l2 |
A |
G |
6: 38,603,464 (GRCm38) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 35,850,881 (GRCm38) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 67,295,394 (GRCm38) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,885,275 (GRCm38) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,944,572 (GRCm38) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,609,526 (GRCm38) |
V629L |
unknown |
Het |
| Ncapd3 |
T |
A |
9: 27,055,505 (GRCm38) |
I545N |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,042,768 (GRCm38) |
T1291M |
|
Het |
| Olfr1487 |
A |
T |
19: 13,619,833 (GRCm38) |
I181F |
probably damaging |
Het |
| Olfr419 |
T |
A |
1: 174,250,218 (GRCm38) |
K236N |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm38) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,117,757 (GRCm38) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,479,405 (GRCm38) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,582,902 (GRCm38) |
G365D |
probably damaging |
Het |
| Ppp2r3a |
A |
T |
9: 101,211,712 (GRCm38) |
F471I |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,100,035 (GRCm38) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,984,128 (GRCm38) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 190,162,221 (GRCm38) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,540,983 (GRCm38) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,914,139 (GRCm38) |
I363T |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,761,209 (GRCm38) |
E134G |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,694,453 (GRCm38) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,167,588 (GRCm38) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,730,986 (GRCm38) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,591,008 (GRCm38) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,635,351 (GRCm38) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,670,380 (GRCm38) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,865,497 (GRCm38) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,763,244 (GRCm38) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,105,908 (GRCm38) |
Q91L |
possibly damaging |
Het |
| Spag9 |
A |
C |
11: 93,996,563 (GRCm38) |
H98P |
possibly damaging |
Het |
| T2 |
T |
A |
17: 8,418,215 (GRCm38) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,897,035 (GRCm38) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,407,420 (GRCm38) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,452,189 (GRCm38) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,798,343 (GRCm38) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 45,321,809 (GRCm38) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,842,612 (GRCm38) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,728,316 (GRCm38) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,685,114 (GRCm38) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,910,982 (GRCm38) |
D388E |
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 |
|
|
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 |
|
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'- TTACAGGACCAGCGTTTGC -3'
(R):5'- CACTGGACCTGGAGTTTGAG -3'
Sequencing Primer
(F):5'- ACCAGCGTTTGCCCAAG -3'
(R):5'- ACCTGGAGTTTGAGATCTTGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation