Incidental Mutation 'R0727:Ccdc88b'
| ID |
200688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
038909-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6831582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 482
(M482V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113440
AA Change: M482V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: M482V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
Pfam:HOOK
|
91 |
503 |
1.2e-16 |
PFAM |
|
coiled coil region
|
731 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113440
AA Change: M482V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: M482V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
Pfam:HOOK
|
91 |
503 |
1.2e-16 |
PFAM |
|
coiled coil region
|
731 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1429 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
| Validation Efficiency |
99% (70/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,016,937 (GRCm39) |
V83A |
possibly damaging |
Het |
| Adam2 |
A |
G |
14: 66,267,180 (GRCm39) |
I693T |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,536 (GRCm39) |
D214G |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,154,781 (GRCm39) |
Y36* |
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,852,072 (GRCm39) |
|
probably null |
Het |
| Catsperb |
G |
T |
12: 101,560,614 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,610,786 (GRCm39) |
K723E |
probably benign |
Het |
| Cep112 |
G |
A |
11: 108,397,380 (GRCm39) |
R375H |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,025 (GRCm39) |
S211P |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,950,954 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,039,828 (GRCm39) |
V1027A |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,100,898 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,123,311 (GRCm39) |
H307R |
probably damaging |
Het |
| Faah |
A |
G |
4: 115,862,257 (GRCm39) |
I242T |
probably damaging |
Het |
| Farsa |
T |
A |
8: 85,587,933 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,907,995 (GRCm39) |
L2669R |
probably damaging |
Het |
| Fgfr4 |
C |
A |
13: 55,304,041 (GRCm39) |
|
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,739,034 (GRCm39) |
S55P |
probably damaging |
Het |
| Grhl3 |
T |
A |
4: 135,273,565 (GRCm39) |
K562N |
possibly damaging |
Het |
| H2bl1 |
A |
G |
13: 99,120,735 (GRCm39) |
V97A |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,201,294 (GRCm39) |
V249A |
probably damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,601 (GRCm39) |
S304P |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,906 (GRCm39) |
|
probably null |
Het |
| Kif3c |
A |
G |
12: 3,416,776 (GRCm39) |
T266A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,956 (GRCm39) |
D3496G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,818,155 (GRCm39) |
V442G |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,648,044 (GRCm39) |
Y479C |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,954,350 (GRCm39) |
T52A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,004,978 (GRCm39) |
D150G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,221 (GRCm39) |
M2927V |
probably benign |
Het |
| Obi1 |
G |
C |
14: 104,717,624 (GRCm39) |
L250V |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,460 (GRCm39) |
V241L |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,315 (GRCm39) |
R229H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,458 (GRCm39) |
I13V |
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,363,245 (GRCm39) |
Y289* |
probably null |
Het |
| Or8k27 |
T |
C |
2: 86,276,282 (GRCm39) |
M15V |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,724 (GRCm39) |
Y149* |
probably null |
Het |
| Pabpc2 |
A |
C |
18: 39,908,187 (GRCm39) |
Q484P |
probably benign |
Het |
| Pbld2 |
T |
A |
10: 62,903,298 (GRCm39) |
V125D |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,399,184 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,465 (GRCm39) |
E785G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,607,656 (GRCm39) |
|
probably benign |
Het |
| R3hcc1l |
A |
G |
19: 42,564,514 (GRCm39) |
D29G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,791,318 (GRCm39) |
Y180* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,109,002 (GRCm39) |
S140G |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,320 (GRCm39) |
N122S |
possibly damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,118,292 (GRCm39) |
I93L |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,581,771 (GRCm39) |
G4798D |
probably damaging |
Het |
| Scaf11 |
G |
A |
15: 96,317,324 (GRCm39) |
P747S |
probably damaging |
Het |
| Sgo2b |
T |
G |
8: 64,380,816 (GRCm39) |
K672T |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,765,645 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Ssh3 |
G |
T |
19: 4,314,019 (GRCm39) |
H439Q |
probably damaging |
Het |
| Steap3 |
T |
A |
1: 120,155,547 (GRCm39) |
T471S |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,920,725 (GRCm39) |
I208L |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,994,081 (GRCm39) |
Y203C |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,926 (GRCm39) |
I304T |
possibly damaging |
Het |
| Top2a |
A |
T |
11: 98,902,974 (GRCm39) |
C404* |
probably null |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,809,069 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,133 (GRCm39) |
H2097L |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,831 (GRCm39) |
K156E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,630,386 (GRCm39) |
K1413E |
possibly damaging |
Het |
|
| Other mutations in Ccdc88b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Ccdc88b
|
APN |
19 |
6,822,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Ccdc88b
|
APN |
19 |
6,824,078 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02201:Ccdc88b
|
APN |
19 |
6,823,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02260:Ccdc88b
|
APN |
19 |
6,832,717 (GRCm39) |
splice site |
probably benign |
|
|
IGL02276:Ccdc88b
|
APN |
19 |
6,833,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02412:Ccdc88b
|
APN |
19 |
6,824,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Ccdc88b
|
APN |
19 |
6,834,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Ccdc88b
|
APN |
19 |
6,824,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Ccdc88b
|
UTSW |
19 |
6,831,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0544:Ccdc88b
|
UTSW |
19 |
6,834,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Ccdc88b
|
UTSW |
19 |
6,824,017 (GRCm39) |
missense |
probably benign |
|
|
R0975:Ccdc88b
|
UTSW |
19 |
6,823,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Ccdc88b
|
UTSW |
19 |
6,830,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Ccdc88b
|
UTSW |
19 |
6,827,739 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1471:Ccdc88b
|
UTSW |
19 |
6,831,391 (GRCm39) |
missense |
probably benign |
|
|
R1605:Ccdc88b
|
UTSW |
19 |
6,827,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1752:Ccdc88b
|
UTSW |
19 |
6,830,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1832:Ccdc88b
|
UTSW |
19 |
6,830,900 (GRCm39) |
nonsense |
probably null |
|
|
R1839:Ccdc88b
|
UTSW |
19 |
6,831,477 (GRCm39) |
splice site |
probably benign |
|
|
R1917:Ccdc88b
|
UTSW |
19 |
6,826,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Ccdc88b
|
UTSW |
19 |
6,831,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4012:Ccdc88b
|
UTSW |
19 |
6,826,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4350:Ccdc88b
|
UTSW |
19 |
6,827,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4427:Ccdc88b
|
UTSW |
19 |
6,827,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4676:Ccdc88b
|
UTSW |
19 |
6,830,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4677:Ccdc88b
|
UTSW |
19 |
6,825,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4720:Ccdc88b
|
UTSW |
19 |
6,835,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Ccdc88b
|
UTSW |
19 |
6,834,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ccdc88b
|
UTSW |
19 |
6,833,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ccdc88b
|
UTSW |
19 |
6,825,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5403:Ccdc88b
|
UTSW |
19 |
6,835,108 (GRCm39) |
missense |
unknown |
|
|
R5448:Ccdc88b
|
UTSW |
19 |
6,831,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Ccdc88b
|
UTSW |
19 |
6,831,203 (GRCm39) |
missense |
probably benign |
|
|
R5783:Ccdc88b
|
UTSW |
19 |
6,831,284 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5988:Ccdc88b
|
UTSW |
19 |
6,833,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Ccdc88b
|
UTSW |
19 |
6,826,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Ccdc88b
|
UTSW |
19 |
6,832,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6773:Ccdc88b
|
UTSW |
19 |
6,826,409 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7073:Ccdc88b
|
UTSW |
19 |
6,831,330 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7707:Ccdc88b
|
UTSW |
19 |
6,834,837 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7810:Ccdc88b
|
UTSW |
19 |
6,826,454 (GRCm39) |
missense |
probably benign |
|
|
R8298:Ccdc88b
|
UTSW |
19 |
6,827,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8349:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Ccdc88b
|
UTSW |
19 |
6,831,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Ccdc88b
|
UTSW |
19 |
6,824,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8714:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Ccdc88b
|
UTSW |
19 |
6,824,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Ccdc88b
|
UTSW |
19 |
6,831,203 (GRCm39) |
missense |
probably benign |
|
|
R9049:Ccdc88b
|
UTSW |
19 |
6,826,442 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9100:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,831,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9202:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Ccdc88b
|
UTSW |
19 |
6,826,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ccdc88b
|
UTSW |
19 |
6,833,541 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9385:Ccdc88b
|
UTSW |
19 |
6,833,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9441:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Ccdc88b
|
UTSW |
19 |
6,831,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ccdc88b
|
UTSW |
19 |
6,833,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Ccdc88b
|
UTSW |
19 |
6,831,199 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc88b
|
UTSW |
19 |
6,827,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTCACCTCCTATCTGGCAAG -3'
(R):5'- TGGAGCTGGAACTTCAGAGGAGTC -3'
Sequencing Primer
(F):5'- CTATCTGGCAAGCGGGG -3'
(R):5'- CCTTACTAAGTCTCTGAGAGGTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation