Incidental Mutation 'R1832:Ccdc88b'
| ID |
204903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
039859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1832 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 6830900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 681
(Q681*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113440
AA Change: Q681*
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: Q681*
| 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 |
0.9700 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (82/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,962,277 (GRCm39) |
N525K |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adamts20 |
A |
T |
15: 94,184,225 (GRCm39) |
M1526K |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,771 (GRCm39) |
|
probably null |
Het |
| Ankrd1 |
C |
T |
19: 36,092,378 (GRCm39) |
C283Y |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Bhlhe22 |
G |
A |
3: 18,109,139 (GRCm39) |
C63Y |
probably damaging |
Het |
| Bmp8a |
A |
T |
4: 123,218,885 (GRCm39) |
|
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Chac2 |
T |
C |
11: 30,927,568 (GRCm39) |
N117S |
probably benign |
Het |
| Cimap3 |
C |
T |
3: 105,921,912 (GRCm39) |
E4K |
possibly damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,746 (GRCm39) |
I60F |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,970,850 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,264,644 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
G |
T |
7: 26,011,635 (GRCm39) |
E285D |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,426,928 (GRCm39) |
G176D |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,368,233 (GRCm39) |
Y246D |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,171,363 (GRCm39) |
S958C |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,728,832 (GRCm39) |
T8A |
possibly damaging |
Het |
| Fbh1 |
G |
T |
2: 11,772,211 (GRCm39) |
L157I |
probably benign |
Het |
| Fbxo40 |
C |
A |
16: 36,789,218 (GRCm39) |
G631* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,281 (GRCm39) |
|
probably null |
Het |
| Galc |
A |
G |
12: 98,200,499 (GRCm39) |
|
probably null |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Igkv13-54-1 |
A |
T |
6: 69,594,277 (GRCm39) |
M31L |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,041,933 (GRCm39) |
R67Q |
possibly damaging |
Het |
| Lcn10 |
A |
G |
2: 25,575,151 (GRCm39) |
D173G |
probably damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,926 (GRCm39) |
R656L |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ly6d |
T |
C |
15: 74,634,615 (GRCm39) |
K46E |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,306 (GRCm39) |
N88D |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,604,132 (GRCm39) |
E422V |
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,522,296 (GRCm39) |
V195A |
probably benign |
Het |
| Nmnat3 |
T |
C |
9: 98,281,521 (GRCm39) |
V41A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,319 (GRCm39) |
N38K |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,834 (GRCm39) |
R305G |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,492 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,684,886 (GRCm39) |
E751V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,189 (GRCm39) |
S355G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,390,134 (GRCm39) |
V821A |
probably damaging |
Het |
| Plxna4 |
A |
C |
6: 32,174,761 (GRCm39) |
D1109E |
probably benign |
Het |
| Ppard |
A |
G |
17: 28,516,084 (GRCm39) |
M103V |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,752 (GRCm39) |
T515A |
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,703,091 (GRCm39) |
I596V |
possibly damaging |
Het |
| Rnls |
A |
G |
19: 33,145,895 (GRCm39) |
S75P |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,903,997 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,835,628 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
G |
2: 27,125,581 (GRCm39) |
V311A |
possibly damaging |
Het |
| Sbno2 |
G |
T |
10: 79,896,439 (GRCm39) |
Y889* |
probably null |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,456 (GRCm39) |
V534E |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,066,441 (GRCm39) |
I768L |
probably benign |
Het |
| Slc10a1 |
G |
A |
12: 81,000,446 (GRCm39) |
S351F |
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,468 (GRCm39) |
V183E |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,164,054 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,841,069 (GRCm39) |
I114L |
probably benign |
Het |
| Smpd2 |
A |
T |
10: 41,364,232 (GRCm39) |
C189S |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,616,018 (GRCm39) |
V295D |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,380,627 (GRCm39) |
S514P |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,747,754 (GRCm39) |
I49M |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,337,619 (GRCm39) |
T431A |
probably benign |
Het |
| Vgf |
A |
T |
5: 137,060,153 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Vmn1r37 |
G |
T |
6: 66,708,780 (GRCm39) |
L135F |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,102,594 (GRCm39) |
A128T |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,650,197 (GRCm39) |
D323G |
probably benign |
Het |
| Zfp456 |
T |
A |
13: 67,515,482 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,264,780 (GRCm39) |
I593V |
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 |
|
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 |
|
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'- TTAACCTCAAGGCCTGCAAC -3'
(R):5'- CCAGAGGTCAGAATTGAAGTGC -3'
Sequencing Primer
(F):5'- TCAAGGCCTGCAACCTCTC -3'
(R):5'- GTCAGAATTGAAGTGCAGGAGTTGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation