Incidental Mutation 'R4677:Ccdc88b'
| ID |
349706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
042014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4677 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6825636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1206
(A1206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113440
AA Change: A1206S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: A1206S
| 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 |
0.1036 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (85/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,793,587 (GRCm39) |
M1T |
probably null |
Het |
| Akap3 |
T |
C |
6: 126,842,226 (GRCm39) |
S282P |
probably damaging |
Het |
| Anxa10 |
A |
G |
8: 62,516,054 (GRCm39) |
I206T |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,713 (GRCm39) |
D52G |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,228 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,626,329 (GRCm39) |
E87G |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,923,197 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,901 (GRCm39) |
N852D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,336,665 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,516,020 (GRCm39) |
T145A |
unknown |
Het |
| Dcdc2b |
T |
C |
4: 129,507,936 (GRCm39) |
T39A |
probably damaging |
Het |
| Ddx55 |
A |
T |
5: 124,705,997 (GRCm39) |
D474V |
probably benign |
Het |
| Dipk2a |
A |
T |
9: 94,402,457 (GRCm39) |
C402S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,010,640 (GRCm39) |
L521P |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,707,010 (GRCm39) |
D497G |
probably null |
Het |
| Fam151a |
A |
G |
4: 106,605,456 (GRCm39) |
E606G |
possibly damaging |
Het |
| Fbxw11 |
T |
A |
11: 32,692,535 (GRCm39) |
L502* |
probably null |
Het |
| Fcrl1 |
A |
G |
3: 87,297,563 (GRCm39) |
S337G |
possibly damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,439 (GRCm39) |
F296L |
probably benign |
Het |
| Gm17472 |
C |
A |
6: 42,957,809 (GRCm39) |
T26N |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,751,870 (GRCm39) |
V564A |
probably benign |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,726 (GRCm39) |
Y195H |
probably damaging |
Het |
| Igkc |
A |
T |
6: 70,703,662 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
T |
9: 58,064,642 (GRCm39) |
D288E |
probably damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,197 (GRCm39) |
S36G |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,821,159 (GRCm39) |
H3134Q |
possibly damaging |
Het |
| Loricrin |
A |
G |
3: 91,989,050 (GRCm39) |
Y79H |
unknown |
Het |
| Lrp1b |
A |
G |
2: 40,691,496 (GRCm39) |
F3327S |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 115,952,332 (GRCm39) |
H637Y |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,290,220 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
T |
G |
10: 76,306,404 (GRCm39) |
F172L |
probably damaging |
Het |
| Muc19 |
G |
A |
15: 91,772,411 (GRCm39) |
|
noncoding transcript |
Het |
| Muc21 |
T |
A |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,224,212 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,481,840 (GRCm39) |
I252L |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,154,152 (GRCm39) |
H588Q |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,878 (GRCm39) |
V351A |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,062 (GRCm39) |
N155S |
probably benign |
Het |
| Or51b17 |
T |
C |
7: 103,542,615 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,315 (GRCm39) |
T44A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,032 (GRCm39) |
S7R |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,411,865 (GRCm39) |
N480D |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,145,833 (GRCm39) |
K374E |
probably damaging |
Het |
| Pdhx |
G |
A |
2: 102,903,811 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,100,237 (GRCm39) |
Y1888H |
probably damaging |
Het |
| Pnpla2 |
T |
A |
7: 141,038,356 (GRCm39) |
M203K |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
G |
T |
6: 71,870,498 (GRCm39) |
H321N |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,743,366 (GRCm39) |
|
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,342,100 (GRCm39) |
T192A |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,889 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,187,387 (GRCm39) |
P1372S |
possibly damaging |
Het |
| Rps6ka4 |
G |
T |
19: 6,816,854 (GRCm39) |
T107K |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,329,980 (GRCm39) |
T1169A |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,721,553 (GRCm39) |
W2626L |
probably damaging |
Het |
| Scn4a |
C |
T |
11: 106,214,788 (GRCm39) |
V1270I |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,806 (GRCm39) |
S333P |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,224,019 (GRCm39) |
|
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,137,137 (GRCm39) |
V262M |
possibly damaging |
Het |
| Tll1 |
A |
T |
8: 64,504,411 (GRCm39) |
F662I |
probably benign |
Het |
| Tmem161a |
A |
T |
8: 70,633,597 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,535,907 (GRCm39) |
V465G |
possibly damaging |
Het |
| Trcg1 |
A |
G |
9: 57,153,144 (GRCm39) |
K596E |
possibly damaging |
Het |
| Trim27 |
T |
A |
13: 21,365,086 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,964,752 (GRCm39) |
I1406V |
possibly damaging |
Het |
| Tssc4 |
T |
A |
7: 142,624,246 (GRCm39) |
S254T |
probably damaging |
Het |
| Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,257,705 (GRCm39) |
T288A |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,343,692 (GRCm39) |
R441S |
probably benign |
Het |
| Vmn1r29 |
T |
C |
6: 58,284,285 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,613,082 (GRCm39) |
I46L |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,775 (GRCm39) |
I429F |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,212,176 (GRCm39) |
R421G |
probably benign |
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 |
|
R0727:Ccdc88b
|
UTSW |
19 |
6,831,582 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CATGCTCACAGGTACTCTCG -3'
(R):5'- TAGAGTGGGTTAGTCACTGCC -3'
Sequencing Primer
(F):5'- CTGCTCTCGATGCAGATGGTC -3'
(R):5'- GGTTAGTCACTGCCCCTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation