Incidental Mutation 'R9720:Ccdc88a'
| ID |
730734 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29413813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 784
(S784G)
|
| 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: S784G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: S784G
| 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: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,183 (GRCm39) |
V968G |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,900,236 (GRCm39) |
V110A |
|
Het |
| Adamts2 |
T |
C |
11: 50,666,954 (GRCm39) |
M417T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,740,693 (GRCm39) |
I145T |
probably damaging |
Het |
| Ampd3 |
C |
A |
7: 110,377,056 (GRCm39) |
H16N |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,825,335 (GRCm39) |
S1335C |
|
Het |
| Ankrd26 |
G |
A |
6: 118,498,902 (GRCm39) |
S1208L |
probably damaging |
Het |
| Atmin |
G |
A |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| AU018091 |
T |
C |
7: 3,209,272 (GRCm39) |
T323A |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
T |
A |
10: 89,641,219 (GRCm39) |
S797T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,026,330 (GRCm39) |
I468V |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,302,297 (GRCm39) |
H1985L |
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,269,568 (GRCm39) |
V550A |
probably benign |
Het |
| Cd300ld2 |
C |
T |
11: 114,903,118 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,686,621 (GRCm39) |
A227V |
probably benign |
Het |
| Clcn7 |
G |
T |
17: 25,374,471 (GRCm39) |
R524L |
probably damaging |
Het |
| Cldn22 |
G |
A |
8: 48,277,786 (GRCm39) |
A75T |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,724 (GRCm39) |
D146G |
probably benign |
Het |
| Dhx32 |
C |
A |
7: 133,324,857 (GRCm39) |
E607* |
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,716,580 (GRCm39) |
Y350C |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,976 (GRCm39) |
D181V |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,673 (GRCm39) |
N137S |
probably damaging |
Het |
| Gar1 |
C |
T |
3: 129,620,497 (GRCm39) |
G197S |
unknown |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Hap1 |
T |
A |
11: 100,246,696 (GRCm39) |
I70F |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,920,607 (GRCm39) |
Y150C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,810 (GRCm39) |
V59I |
probably damaging |
Het |
| Il15 |
T |
G |
8: 83,058,608 (GRCm39) |
K142Q |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,654,804 (GRCm39) |
Y225H |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,588,226 (GRCm39) |
I145F |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,284,083 (GRCm39) |
T499S |
probably benign |
Het |
| Lrriq4 |
A |
G |
3: 30,714,077 (GRCm39) |
N490S |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,935,238 (GRCm39) |
S1763P |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,304 (GRCm39) |
V1000A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,358,793 (GRCm39) |
S414P |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,165,499 (GRCm39) |
V622A |
possibly damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,581 (GRCm39) |
V281A |
probably benign |
Het |
| Or6d14 |
T |
C |
6: 116,534,016 (GRCm39) |
V210A |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,603,287 (GRCm39) |
D2234G |
probably damaging |
Het |
| Pde6c |
A |
T |
19: 38,157,887 (GRCm39) |
Y637F |
probably benign |
Het |
| Pigg |
T |
A |
5: 108,467,800 (GRCm39) |
C266* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
| Pkp2 |
T |
C |
16: 16,087,584 (GRCm39) |
V756A |
probably benign |
Het |
| Pole |
C |
T |
5: 110,484,909 (GRCm39) |
T2245I |
probably benign |
Het |
| Ppm1g |
A |
C |
5: 31,360,914 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,298 (GRCm39) |
I340M |
possibly damaging |
Het |
| Pvr |
G |
A |
7: 19,643,121 (GRCm39) |
R371* |
probably null |
Het |
| Rassf9 |
G |
A |
10: 102,348,369 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,559,882 (GRCm39) |
N652K |
possibly damaging |
Het |
| Sall4 |
G |
C |
2: 168,592,160 (GRCm39) |
S998C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 142,197,796 (GRCm39) |
Y2150H |
probably damaging |
Het |
| Serpinb3b |
A |
T |
1: 107,083,669 (GRCm39) |
I170K |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,682,137 (GRCm39) |
D390V |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,930 (GRCm39) |
V11A |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,040,584 (GRCm39) |
T220I |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,733 (GRCm39) |
I216T |
probably benign |
Het |
| Tas2r122 |
G |
T |
6: 132,688,634 (GRCm39) |
D86E |
probably benign |
Het |
| Tbxa2r |
T |
A |
10: 81,169,018 (GRCm39) |
C236S |
probably benign |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,286 (GRCm39) |
T80K |
probably benign |
Het |
| Trav6d-5 |
T |
A |
14: 53,033,077 (GRCm39) |
C109S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,847,495 (GRCm39) |
M982T |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,683,485 (GRCm39) |
T2176S |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,910,890 (GRCm39) |
T259A |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,197 (GRCm39) |
I397K |
probably benign |
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 |
|
R7538:Ccdc88a
|
UTSW |
11 |
29,413,370 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCAGCTAGAGAACAAGG -3'
(R):5'- TCTTTTAGACGAACACAGGACTC -3'
Sequencing Primer
(F):5'- CTCCAGCTAGAGAACAAGGAGCTG -3'
(R):5'- GACGAACACAGGACTCTTTATATAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation