Incidental Mutation 'R7353:Ccdc88a'
| ID |
570754 |
| 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 |
045439-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29413368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 635
(N635K)
|
| 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: N635K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: N635K
| 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: 99.9%
- 20x: 99.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,714 (GRCm39) |
A11S |
unknown |
Het |
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,546,731 (GRCm39) |
I1369F |
probably damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,495 (GRCm39) |
I427F |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,542,993 (GRCm39) |
V397E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,710 (GRCm39) |
Y91F |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,341 (GRCm39) |
T454A |
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Boc |
C |
T |
16: 44,306,100 (GRCm39) |
V1070M |
unknown |
Het |
| Ccr2 |
T |
C |
9: 123,906,793 (GRCm39) |
S358P |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,663,100 (GRCm39) |
Q28R |
possibly damaging |
Het |
| Cenpf |
T |
A |
1: 189,386,335 (GRCm39) |
K1982* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,933,161 (GRCm39) |
I137F |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,943 (GRCm39) |
I1532K |
possibly damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,107,230 (GRCm39) |
R304L |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,394,912 (GRCm39) |
M664K |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,750,741 (GRCm39) |
E336V |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,791,683 (GRCm39) |
Y63H |
|
Het |
| Fbxo41 |
G |
T |
6: 85,456,958 (GRCm39) |
R404S |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,197,835 (GRCm39) |
Y456* |
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,523 (GRCm39) |
N286K |
probably damaging |
Het |
| Kcna5 |
A |
G |
6: 126,511,808 (GRCm39) |
S107P |
probably benign |
Het |
| Kcne2 |
A |
T |
16: 92,093,710 (GRCm39) |
H79L |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,025 (GRCm39) |
M113L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,755,513 (GRCm39) |
L263Q |
probably damaging |
Het |
| Lctl |
G |
A |
9: 64,034,249 (GRCm39) |
G296D |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,437,424 (GRCm39) |
I205F |
possibly damaging |
Het |
| Magel2 |
G |
T |
7: 62,029,079 (GRCm39) |
R661L |
unknown |
Het |
| Mcm10 |
G |
A |
2: 5,011,920 (GRCm39) |
P180S |
possibly damaging |
Het |
| Mia3 |
G |
T |
1: 183,108,247 (GRCm39) |
A446D |
|
Het |
| N4bp2 |
G |
A |
5: 65,963,714 (GRCm39) |
V588M |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,259 (GRCm39) |
V755M |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,229,099 (GRCm39) |
V213A |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,896,946 (GRCm39) |
T522A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 110,042,763 (GRCm39) |
Q21R |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,534,296 (GRCm39) |
L707S |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,587 (GRCm39) |
V452D |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,429 (GRCm39) |
F67L |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,702,915 (GRCm39) |
L63P |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,081 (GRCm39) |
M8L |
probably benign |
Het |
| Or1n1 |
G |
A |
2: 36,749,680 (GRCm39) |
R227* |
probably null |
Het |
| Or52s1 |
A |
C |
7: 102,861,516 (GRCm39) |
T150P |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,327 (GRCm39) |
T1405S |
|
Het |
| Pnrc1 |
G |
A |
4: 33,248,300 (GRCm39) |
P33L |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,085,684 (GRCm39) |
V312E |
possibly damaging |
Het |
| Rps17 |
T |
A |
7: 80,994,093 (GRCm39) |
E76V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,904,038 (GRCm39) |
G672S |
possibly damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,807 (GRCm39) |
N460S |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,339,764 (GRCm39) |
C56S |
possibly damaging |
Het |
| Speer1f |
G |
A |
5: 11,466,403 (GRCm39) |
D7N |
possibly damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Sult2a8 |
T |
C |
7: 14,147,640 (GRCm39) |
N217S |
possibly damaging |
Het |
| Tbx2 |
C |
A |
11: 85,724,315 (GRCm39) |
T128N |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,934,278 (GRCm39) |
M1313L |
probably benign |
Het |
| Tmc2 |
G |
A |
2: 130,038,497 (GRCm39) |
|
probably null |
Het |
| Tstd1 |
G |
T |
1: 171,247,523 (GRCm39) |
A69S |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,567 (GRCm39) |
D252G |
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,710,174 (GRCm39) |
N345D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,481,355 (GRCm39) |
D1694G |
probably benign |
Het |
| Vill |
T |
C |
9: 118,894,561 (GRCm39) |
V406A |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,564,887 (GRCm39) |
V258A |
possibly damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,452 (GRCm39) |
M817K |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,088 (GRCm39) |
S263P |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,714 (GRCm39) |
D481G |
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,952,778 (GRCm39) |
S81P |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,819,169 (GRCm39) |
V46A |
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 |
|
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 |
|
R9720:Ccdc88a
|
UTSW |
11 |
29,413,813 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGATTAGTGCTGAGGC -3'
(R):5'- CGCTCCTTCGCAGTTCTAAG -3'
Sequencing Primer
(F):5'- CCAGATTAGTGCTGAGGCGAGAG -3'
(R):5'- GCAGTTCTAAGTTTTCTTCATCGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation