Incidental Mutation 'R4749:Ccdc88a'
| ID |
357410 |
| 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 |
041969-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29432720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 222
(K222R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040182]
[ENSMUST00000140194]
[ENSMUST00000155854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040182
AA Change: K1242R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: K1242R
| 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: ENSMUST00000123561
AA Change: K222R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: K222R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
212 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140194
|
| SMART Domains |
Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
| Adgra2 |
A |
G |
8: 27,604,225 (GRCm39) |
K472E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,737 (GRCm39) |
D1106G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,232,551 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Arsi |
A |
T |
18: 61,050,533 (GRCm39) |
Y472F |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,826 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,252,135 (GRCm39) |
D88N |
probably benign |
Het |
| BC061237 |
T |
A |
14: 44,743,469 (GRCm39) |
V169E |
probably damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
| C9 |
G |
A |
15: 6,519,311 (GRCm39) |
V383I |
probably benign |
Het |
| Ccna2 |
T |
C |
3: 36,620,391 (GRCm39) |
S421G |
probably benign |
Het |
| Cflar |
T |
G |
1: 58,779,431 (GRCm39) |
V229G |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,267,131 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,315,732 (GRCm39) |
F1342L |
unknown |
Het |
| Colq |
C |
T |
14: 31,251,472 (GRCm39) |
R313H |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,359,974 (GRCm39) |
E345G |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,681 (GRCm39) |
V1014A |
unknown |
Het |
| Cyb561 |
A |
G |
11: 105,826,708 (GRCm39) |
F182L |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,833,617 (GRCm39) |
S317P |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,579,888 (GRCm39) |
E31G |
possibly damaging |
Het |
| Dsn1 |
G |
A |
2: 156,843,660 (GRCm39) |
L147F |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,043,990 (GRCm39) |
V277A |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,128,327 (GRCm39) |
I569K |
probably damaging |
Het |
| Erg |
T |
C |
16: 95,162,029 (GRCm39) |
N342S |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,409 (GRCm39) |
D247N |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,628 (GRCm39) |
D497G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,819,629 (GRCm39) |
I5121V |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,752,461 (GRCm39) |
D2155E |
probably benign |
Het |
| Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,887 (GRCm39) |
V296A |
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,302,644 (GRCm39) |
S970T |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,370 (GRCm39) |
|
probably null |
Het |
| Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
| Hsd3b3 |
G |
A |
3: 98,649,931 (GRCm39) |
P131S |
probably damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,672 (GRCm39) |
V211A |
probably damaging |
Het |
| Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,523,180 (GRCm39) |
D483E |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,727 (GRCm39) |
V474E |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,072,487 (GRCm39) |
Y64* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,357,786 (GRCm39) |
D664G |
possibly damaging |
Het |
| Map3k5 |
C |
A |
10: 20,007,798 (GRCm39) |
S1201Y |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,868,973 (GRCm39) |
E293G |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,551,599 (GRCm39) |
|
probably null |
Het |
| Mettl18 |
T |
C |
1: 163,824,354 (GRCm39) |
V225A |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,169 (GRCm39) |
I432F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,415,185 (GRCm39) |
Y2710* |
probably null |
Het |
| Neurl4 |
A |
T |
11: 69,801,894 (GRCm39) |
I1282F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,395,313 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Nktr |
A |
G |
9: 121,570,759 (GRCm39) |
D167G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,368,669 (GRCm39) |
I249T |
probably damaging |
Het |
| Nsfl1c |
A |
G |
2: 151,351,526 (GRCm39) |
T297A |
probably benign |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Or1e1 |
G |
A |
11: 73,245,322 (GRCm39) |
V248M |
probably damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
| Or4k6 |
A |
G |
14: 50,476,190 (GRCm39) |
S51P |
probably damaging |
Het |
| Or5b24 |
C |
T |
19: 12,912,581 (GRCm39) |
H160Y |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,327 (GRCm39) |
S375G |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,335,757 (GRCm39) |
F48S |
probably damaging |
Het |
| Phf2 |
A |
T |
13: 48,975,185 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
T |
8: 123,213,678 (GRCm39) |
M1739K |
possibly damaging |
Het |
| Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
| Pml |
C |
T |
9: 58,141,935 (GRCm39) |
R299H |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,130 (GRCm39) |
M236K |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,739,734 (GRCm39) |
C203S |
probably damaging |
Het |
| Prob1 |
C |
T |
18: 35,785,869 (GRCm39) |
R795H |
possibly damaging |
Het |
| Prr22 |
G |
C |
17: 57,078,274 (GRCm39) |
E142D |
possibly damaging |
Het |
| Prss56 |
C |
A |
1: 87,113,305 (GRCm39) |
A211E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,649 (GRCm39) |
S1054R |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,720,694 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
C |
A |
17: 26,063,248 (GRCm39) |
G19V |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,249 (GRCm39) |
T945M |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
| Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sharpin |
T |
A |
15: 76,231,767 (GRCm39) |
D314V |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,198,796 (GRCm39) |
L778Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc4a11 |
C |
A |
2: 130,532,787 (GRCm39) |
R222L |
probably damaging |
Het |
| Slc7a10 |
C |
T |
7: 34,900,187 (GRCm39) |
P502S |
probably damaging |
Het |
| Sort1 |
T |
G |
3: 108,263,639 (GRCm39) |
Y812* |
probably null |
Het |
| Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
| Tcp10b |
G |
A |
17: 13,289,832 (GRCm39) |
|
probably null |
Het |
| Tnc |
T |
C |
4: 63,913,876 (GRCm39) |
D1312G |
possibly damaging |
Het |
| Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
| Topors |
A |
T |
4: 40,261,015 (GRCm39) |
S756R |
unknown |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,432,734 (GRCm39) |
D744G |
probably benign |
Het |
| Vmn1r224 |
A |
G |
17: 20,640,013 (GRCm39) |
I197V |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
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 |
|
|
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 |
|
R9720:Ccdc88a
|
UTSW |
11 |
29,413,813 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTTGAAGACCGGTAACTTATC -3'
(R):5'- CCCTGGTAAGTCTAAATTGTGACTG -3'
Sequencing Primer
(F):5'- GAAGACCGGTAACTTATCATACTGAG -3'
(R):5'- TGTGACTGCTATTAAACACACAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation