Incidental Mutation 'R7538:Ccdc88a'
ID |
583739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc88a
|
Ensembl Gene |
ENSMUSG00000032740 |
Gene Name |
coiled coil domain containing 88A |
Synonyms |
GIV, Girdin, D130005J21Rik, HkRP1, C330012F17Rik, C130096N06Rik, A430106J12Rik |
MMRRC Submission |
045610-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7538 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29413370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 636
(H636L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040182]
[ENSMUST00000155854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040182
AA Change: H636L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048978 Gene: ENSMUSG00000032740 AA Change: H636L
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
14 |
590 |
8.1e-36 |
PFAM |
low complexity region
|
614 |
625 |
N/A |
INTRINSIC |
Blast:BRLZ
|
665 |
719 |
6e-22 |
BLAST |
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
low complexity region
|
955 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
coiled coil region
|
1268 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1437 |
1444 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1576 |
N/A |
INTRINSIC |
internal_repeat_1
|
1609 |
1702 |
2.38e-6 |
PROSPERO |
internal_repeat_1
|
1708 |
1808 |
2.38e-6 |
PROSPERO |
low complexity region
|
1811 |
1824 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155854
|
SMART Domains |
Protein: ENSMUSP00000115117 Gene: ENSMUSG00000032740
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
low complexity region
|
146 |
176 |
N/A |
INTRINSIC |
Blast:BRLZ
|
228 |
283 |
7e-6 |
BLAST |
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (77/79) |
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 Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
C |
A |
9: 30,864,766 (GRCm39) |
P419H |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,118,792 (GRCm39) |
V919I |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,303,213 (GRCm39) |
V113I |
probably damaging |
Het |
Akr1d1 |
T |
A |
6: 37,513,043 (GRCm39) |
I113K |
probably benign |
Het |
Alx3 |
A |
T |
3: 107,511,680 (GRCm39) |
I230F |
probably damaging |
Het |
Apob |
A |
T |
12: 8,052,219 (GRCm39) |
D1220V |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,721,796 (GRCm39) |
L2083P |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,116,373 (GRCm39) |
I907V |
probably benign |
Het |
B4galnt3 |
G |
T |
6: 120,271,384 (GRCm39) |
S46* |
probably null |
Het |
Bfsp1 |
A |
C |
2: 143,673,755 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
A |
11: 118,302,291 (GRCm39) |
R9W |
possibly damaging |
Het |
Cfi |
G |
A |
3: 129,652,464 (GRCm39) |
R297H |
probably benign |
Het |
Cherp |
T |
A |
8: 73,216,263 (GRCm39) |
Q749L |
|
Het |
Clec10a |
A |
G |
11: 70,060,604 (GRCm39) |
D153G |
probably benign |
Het |
Cnga1 |
T |
C |
5: 72,769,723 (GRCm39) |
K99E |
probably benign |
Het |
Cyp2r1 |
A |
T |
7: 114,162,002 (GRCm39) |
V64D |
probably damaging |
Het |
Dact3 |
T |
A |
7: 16,609,443 (GRCm39) |
W32R |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,753 (GRCm39) |
C88R |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,135,782 (GRCm39) |
D1200V |
probably damaging |
Het |
Drosha |
C |
G |
15: 12,926,329 (GRCm39) |
S1262W |
probably damaging |
Het |
Dtnb |
T |
C |
12: 3,823,611 (GRCm39) |
M592T |
possibly damaging |
Het |
Eef2k |
T |
A |
7: 120,491,215 (GRCm39) |
V567E |
probably benign |
Het |
Fem1b |
A |
G |
9: 62,718,449 (GRCm39) |
S47P |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,180,019 (GRCm39) |
E2864G |
probably benign |
Het |
Fscn2 |
A |
G |
11: 120,258,152 (GRCm39) |
N358S |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,818,894 (GRCm39) |
S4876P |
possibly damaging |
Het |
Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,328,603 (GRCm39) |
Y410H |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,686,742 (GRCm39) |
G831D |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,904,194 (GRCm39) |
D228E |
probably benign |
Het |
Hdhd5 |
T |
C |
6: 120,498,257 (GRCm39) |
D114G |
possibly damaging |
Het |
Kcna2 |
A |
G |
3: 107,011,884 (GRCm39) |
Y155C |
probably benign |
Het |
Klc1 |
A |
G |
12: 111,751,879 (GRCm39) |
K441R |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,759,041 (GRCm39) |
L936P |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,979,238 (GRCm39) |
V1197A |
probably benign |
Het |
Mthfsd |
C |
T |
8: 121,825,525 (GRCm39) |
A349T |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,050,427 (GRCm39) |
R123W |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,553,427 (GRCm39) |
I4289F |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,566,747 (GRCm39) |
T1924I |
unknown |
Het |
Mybpc3 |
A |
C |
2: 90,950,832 (GRCm39) |
D220A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,146,587 (GRCm39) |
|
probably null |
Het |
Nectin2 |
A |
G |
7: 19,464,544 (GRCm39) |
W287R |
probably damaging |
Het |
Nipsnap1 |
A |
T |
11: 4,834,089 (GRCm39) |
T114S |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,124,115 (GRCm39) |
S102P |
probably benign |
Het |
Olfml2b |
A |
T |
1: 170,477,402 (GRCm39) |
K179I |
possibly damaging |
Het |
Or4a80 |
G |
T |
2: 89,582,665 (GRCm39) |
P169H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,235,773 (GRCm39) |
M1403V |
probably benign |
Het |
Phf7 |
T |
C |
14: 30,960,386 (GRCm39) |
D284G |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,534 (GRCm39) |
T319A |
possibly damaging |
Het |
Pik3ip1 |
A |
T |
11: 3,283,558 (GRCm39) |
I189F |
probably damaging |
Het |
Pik3r1 |
T |
A |
13: 101,825,914 (GRCm39) |
T371S |
probably damaging |
Het |
Prmt7 |
A |
G |
8: 106,964,018 (GRCm39) |
D304G |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,294,248 (GRCm39) |
V818A |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,959,305 (GRCm39) |
E185G |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 22,999,895 (GRCm39) |
F662V |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,803,411 (GRCm39) |
F70L |
probably benign |
Het |
Rcor1 |
A |
T |
12: 111,034,271 (GRCm39) |
|
probably null |
Het |
Rnasel |
A |
G |
1: 153,630,306 (GRCm39) |
K274R |
probably benign |
Het |
Rsbn1l |
G |
A |
5: 21,101,455 (GRCm39) |
T695I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sema3a |
T |
C |
5: 13,611,787 (GRCm39) |
V351A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,587 (GRCm39) |
L15P |
unknown |
Het |
Siah1a |
G |
A |
8: 87,451,840 (GRCm39) |
R215C |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,011,210 (GRCm39) |
V489D |
possibly damaging |
Het |
Slc22a17 |
A |
G |
14: 55,149,575 (GRCm39) |
I208T |
probably benign |
Het |
Slc36a4 |
G |
A |
9: 15,645,511 (GRCm39) |
V313M |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,023,114 (GRCm39) |
L145* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,053,260 (GRCm39) |
N3362D |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,946,602 (GRCm39) |
L475P |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,329,795 (GRCm39) |
T239K |
probably benign |
Het |
Trmt11 |
T |
G |
10: 30,436,870 (GRCm39) |
D290A |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,225,516 (GRCm39) |
D955V |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,603,101 (GRCm39) |
N257S |
probably benign |
Het |
Usp12 |
T |
C |
5: 146,731,430 (GRCm39) |
T15A |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,971,672 (GRCm39) |
Q526K |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,310,677 (GRCm39) |
|
probably null |
Het |
Zfp689 |
A |
T |
7: 127,044,010 (GRCm39) |
C207S |
probably damaging |
Het |
Zfpl1 |
C |
A |
19: 6,134,432 (GRCm39) |
E18* |
probably null |
Het |
|
Other mutations in Ccdc88a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Ccdc88a
|
APN |
11 |
29,449,341 (GRCm39) |
missense |
probably benign |
0.24 |
IGL00577:Ccdc88a
|
APN |
11 |
29,374,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00766:Ccdc88a
|
APN |
11 |
29,451,046 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01384:Ccdc88a
|
APN |
11 |
29,453,915 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01541:Ccdc88a
|
APN |
11 |
29,350,283 (GRCm39) |
missense |
probably benign |
|
IGL01647:Ccdc88a
|
APN |
11 |
29,454,321 (GRCm39) |
unclassified |
probably benign |
|
IGL02648:Ccdc88a
|
APN |
11 |
29,451,051 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02885:Ccdc88a
|
APN |
11 |
29,398,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03117:Ccdc88a
|
APN |
11 |
29,324,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03196:Ccdc88a
|
APN |
11 |
29,432,340 (GRCm39) |
missense |
possibly damaging |
0.56 |
trailor
|
UTSW |
11 |
29,444,099 (GRCm39) |
splice site |
probably null |
|
R0011:Ccdc88a
|
UTSW |
11 |
29,324,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Ccdc88a
|
UTSW |
11 |
29,324,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Ccdc88a
|
UTSW |
11 |
29,453,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0108:Ccdc88a
|
UTSW |
11 |
29,453,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0326:Ccdc88a
|
UTSW |
11 |
29,411,021 (GRCm39) |
missense |
probably benign |
0.01 |
R0565:Ccdc88a
|
UTSW |
11 |
29,411,042 (GRCm39) |
unclassified |
probably benign |
|
R0631:Ccdc88a
|
UTSW |
11 |
29,443,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R0632:Ccdc88a
|
UTSW |
11 |
29,432,749 (GRCm39) |
unclassified |
probably benign |
|
R0762:Ccdc88a
|
UTSW |
11 |
29,413,112 (GRCm39) |
unclassified |
probably benign |
|
R0838:Ccdc88a
|
UTSW |
11 |
29,350,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R0946:Ccdc88a
|
UTSW |
11 |
29,406,509 (GRCm39) |
missense |
probably benign |
|
R1192:Ccdc88a
|
UTSW |
11 |
29,454,049 (GRCm39) |
missense |
possibly damaging |
0.45 |
R1500:Ccdc88a
|
UTSW |
11 |
29,432,713 (GRCm39) |
missense |
probably benign |
0.00 |
R1701:Ccdc88a
|
UTSW |
11 |
29,427,427 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1826:Ccdc88a
|
UTSW |
11 |
29,439,637 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1902:Ccdc88a
|
UTSW |
11 |
29,411,788 (GRCm39) |
missense |
probably benign |
0.07 |
R1903:Ccdc88a
|
UTSW |
11 |
29,411,788 (GRCm39) |
missense |
probably benign |
0.07 |
R2021:Ccdc88a
|
UTSW |
11 |
29,453,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R2023:Ccdc88a
|
UTSW |
11 |
29,413,546 (GRCm39) |
nonsense |
probably null |
|
R2284:Ccdc88a
|
UTSW |
11 |
29,444,099 (GRCm39) |
splice site |
probably null |
|
R3236:Ccdc88a
|
UTSW |
11 |
29,397,995 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3409:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3410:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Ccdc88a
|
UTSW |
11 |
29,398,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R3620:Ccdc88a
|
UTSW |
11 |
29,380,227 (GRCm39) |
missense |
probably benign |
0.16 |
R4204:Ccdc88a
|
UTSW |
11 |
29,413,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4518:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4519:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4693:Ccdc88a
|
UTSW |
11 |
29,432,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Ccdc88a
|
UTSW |
11 |
29,372,586 (GRCm39) |
missense |
probably benign |
|
R4707:Ccdc88a
|
UTSW |
11 |
29,397,956 (GRCm39) |
missense |
probably benign |
|
R4732:Ccdc88a
|
UTSW |
11 |
29,435,906 (GRCm39) |
missense |
probably benign |
0.02 |
R4733:Ccdc88a
|
UTSW |
11 |
29,435,906 (GRCm39) |
missense |
probably benign |
0.02 |
R4734:Ccdc88a
|
UTSW |
11 |
29,432,720 (GRCm39) |
missense |
probably benign |
|
R4749:Ccdc88a
|
UTSW |
11 |
29,432,720 (GRCm39) |
missense |
probably benign |
|
R4817:Ccdc88a
|
UTSW |
11 |
29,410,907 (GRCm39) |
missense |
probably benign |
0.15 |
R4828:Ccdc88a
|
UTSW |
11 |
29,413,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R4979:Ccdc88a
|
UTSW |
11 |
29,432,133 (GRCm39) |
nonsense |
probably null |
|
R5288:Ccdc88a
|
UTSW |
11 |
29,448,416 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5373:Ccdc88a
|
UTSW |
11 |
29,413,409 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5374:Ccdc88a
|
UTSW |
11 |
29,413,409 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5401:Ccdc88a
|
UTSW |
11 |
29,413,279 (GRCm39) |
missense |
probably benign |
0.00 |
R5586:Ccdc88a
|
UTSW |
11 |
29,453,484 (GRCm39) |
missense |
probably benign |
0.00 |
R6660:Ccdc88a
|
UTSW |
11 |
29,432,663 (GRCm39) |
missense |
probably benign |
0.01 |
R7116:Ccdc88a
|
UTSW |
11 |
29,454,051 (GRCm39) |
missense |
probably benign |
0.01 |
R7353:Ccdc88a
|
UTSW |
11 |
29,413,368 (GRCm39) |
missense |
probably benign |
0.00 |
R7663:Ccdc88a
|
UTSW |
11 |
29,448,614 (GRCm39) |
critical splice donor site |
probably null |
|
R7769:Ccdc88a
|
UTSW |
11 |
29,432,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Ccdc88a
|
UTSW |
11 |
29,427,348 (GRCm39) |
missense |
probably benign |
0.15 |
R7810:Ccdc88a
|
UTSW |
11 |
29,435,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7826:Ccdc88a
|
UTSW |
11 |
29,453,563 (GRCm39) |
missense |
probably benign |
0.02 |
R7956:Ccdc88a
|
UTSW |
11 |
29,413,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Ccdc88a
|
UTSW |
11 |
29,443,934 (GRCm39) |
missense |
probably benign |
0.01 |
R8402:Ccdc88a
|
UTSW |
11 |
29,413,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R8409:Ccdc88a
|
UTSW |
11 |
29,453,544 (GRCm39) |
missense |
probably benign |
|
R8555:Ccdc88a
|
UTSW |
11 |
29,380,169 (GRCm39) |
missense |
probably benign |
|
R8676:Ccdc88a
|
UTSW |
11 |
29,410,860 (GRCm39) |
missense |
probably benign |
0.05 |
R8846:Ccdc88a
|
UTSW |
11 |
29,414,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ccdc88a
|
UTSW |
11 |
29,448,416 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8972:Ccdc88a
|
UTSW |
11 |
29,435,888 (GRCm39) |
missense |
probably benign |
0.07 |
R9353:Ccdc88a
|
UTSW |
11 |
29,427,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9362:Ccdc88a
|
UTSW |
11 |
29,453,922 (GRCm39) |
missense |
probably null |
0.55 |
R9385:Ccdc88a
|
UTSW |
11 |
29,405,422 (GRCm39) |
missense |
probably benign |
0.24 |
R9509:Ccdc88a
|
UTSW |
11 |
29,414,143 (GRCm39) |
missense |
probably benign |
0.27 |
R9610:Ccdc88a
|
UTSW |
11 |
29,427,316 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9611:Ccdc88a
|
UTSW |
11 |
29,427,316 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9664:Ccdc88a
|
UTSW |
11 |
29,405,484 (GRCm39) |
missense |
probably benign |
0.08 |
R9720:Ccdc88a
|
UTSW |
11 |
29,413,813 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCCCAGATTAGTGCTGAGG -3'
(R):5'- CGCTCCTTCGCAGTTCTAAG -3'
Sequencing Primer
(F):5'- CCAGATTAGTGCTGAGGCGAGAG -3'
(R):5'- GCAGTTCTAAGTTTTCTTCATCGAG -3'
|
Posted On |
2019-10-17 |