Incidental Mutation 'R0609:Cdc42bpa'
| ID |
54477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
038798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R0609 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179867744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 193
(H193R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076687]
[ENSMUST00000097450]
[ENSMUST00000097453]
[ENSMUST00000111117]
[ENSMUST00000134959]
[ENSMUST00000212756]
|
| AlphaFold |
Q3UU96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076687
AA Change: H193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: H193R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
77 |
343 |
1.06e-86 |
SMART |
|
S_TK_X
|
344 |
406 |
1.18e-15 |
SMART |
|
coiled coil region
|
435 |
588 |
N/A |
INTRINSIC |
|
coiled coil region
|
632 |
735 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
800 |
860 |
2.7e-29 |
PFAM |
|
C1
|
919 |
968 |
4.09e-7 |
SMART |
|
PH
|
989 |
1109 |
6.02e-8 |
SMART |
|
CNH
|
1134 |
1411 |
3.37e-17 |
SMART |
|
low complexity region
|
1456 |
1468 |
N/A |
INTRINSIC |
|
PBD
|
1477 |
1512 |
2.05e-10 |
SMART |
|
low complexity region
|
1531 |
1546 |
N/A |
INTRINSIC |
|
low complexity region
|
1567 |
1580 |
N/A |
INTRINSIC |
|
low complexity region
|
1606 |
1620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097450
AA Change: H193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: H193R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
77 |
343 |
1.06e-86 |
SMART |
|
S_TK_X
|
344 |
406 |
1.18e-15 |
SMART |
|
coiled coil region
|
435 |
669 |
N/A |
INTRINSIC |
|
coiled coil region
|
713 |
816 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
881 |
941 |
2.2e-29 |
PFAM |
|
C1
|
1000 |
1049 |
4.09e-7 |
SMART |
|
PH
|
1070 |
1190 |
6.02e-8 |
SMART |
|
CNH
|
1215 |
1492 |
3.37e-17 |
SMART |
|
low complexity region
|
1537 |
1549 |
N/A |
INTRINSIC |
|
PBD
|
1558 |
1593 |
2.05e-10 |
SMART |
|
low complexity region
|
1612 |
1627 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
|
low complexity region
|
1687 |
1701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097453
AA Change: H193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: H193R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
77 |
343 |
1.06e-86 |
SMART |
|
S_TK_X
|
344 |
406 |
1.18e-15 |
SMART |
|
coiled coil region
|
435 |
669 |
N/A |
INTRINSIC |
|
coiled coil region
|
713 |
816 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
881 |
941 |
2.5e-29 |
PFAM |
|
C1
|
972 |
1021 |
4.09e-7 |
SMART |
|
PH
|
1042 |
1162 |
6.02e-8 |
SMART |
|
CNH
|
1187 |
1464 |
3.37e-17 |
SMART |
|
low complexity region
|
1509 |
1521 |
N/A |
INTRINSIC |
|
PBD
|
1530 |
1565 |
2.05e-10 |
SMART |
|
low complexity region
|
1584 |
1599 |
N/A |
INTRINSIC |
|
low complexity region
|
1620 |
1633 |
N/A |
INTRINSIC |
|
low complexity region
|
1659 |
1673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111117
AA Change: H193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: H193R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
77 |
343 |
1.06e-86 |
SMART |
|
S_TK_X
|
344 |
406 |
1.18e-15 |
SMART |
|
low complexity region
|
484 |
499 |
N/A |
INTRINSIC |
|
Pfam:KELK
|
529 |
608 |
1.1e-32 |
PFAM |
|
coiled coil region
|
713 |
816 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
881 |
941 |
2.6e-29 |
PFAM |
|
C1
|
1013 |
1062 |
4.09e-7 |
SMART |
|
PH
|
1083 |
1203 |
6.02e-8 |
SMART |
|
CNH
|
1228 |
1505 |
3.37e-17 |
SMART |
|
low complexity region
|
1550 |
1562 |
N/A |
INTRINSIC |
|
PBD
|
1571 |
1606 |
2.05e-10 |
SMART |
|
low complexity region
|
1625 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1661 |
1674 |
N/A |
INTRINSIC |
|
low complexity region
|
1700 |
1714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134959
|
| SMART Domains |
Protein: ENSMUSP00000142018
Gene: ENSMUSG00000026490
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AW2|A
|
2 |
90 |
1e-58 |
PDB |
|
SCOP:d1koba_
|
50 |
90 |
7e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143350
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212756
AA Change: H193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9731 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
A |
T |
14: 35,533,418 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
T |
A |
5: 8,997,376 (GRCm39) |
C952S |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,979,647 (GRCm39) |
D272G |
probably benign |
Het |
| Aim2 |
G |
A |
1: 173,289,530 (GRCm39) |
D158N |
probably damaging |
Het |
| Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
| Apoc2 |
A |
G |
7: 19,407,278 (GRCm39) |
S28P |
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,473,179 (GRCm39) |
T1628I |
probably benign |
Het |
| Atp10a |
G |
A |
7: 58,469,488 (GRCm39) |
|
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,552,229 (GRCm39) |
Y618H |
probably damaging |
Het |
| Casp12 |
T |
A |
9: 5,346,554 (GRCm39) |
F27Y |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,883,951 (GRCm39) |
N439K |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,204,281 (GRCm39) |
K253N |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,052,334 (GRCm39) |
M105T |
probably benign |
Het |
| Cdon |
C |
A |
9: 35,389,907 (GRCm39) |
P854T |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 56,997,187 (GRCm39) |
M117T |
possibly damaging |
Het |
| Cep89 |
A |
T |
7: 35,134,955 (GRCm39) |
E674D |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,012,002 (GRCm39) |
A203V |
probably damaging |
Het |
| Clstn1 |
C |
A |
4: 149,713,757 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
T |
A |
9: 108,787,215 (GRCm39) |
D565E |
unknown |
Het |
| Cpb1 |
T |
A |
3: 20,316,638 (GRCm39) |
Y304F |
probably damaging |
Het |
| Cps1 |
T |
G |
1: 67,211,961 (GRCm39) |
Y710D |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
| Dars1 |
A |
G |
1: 128,333,118 (GRCm39) |
V102A |
probably benign |
Het |
| Dhx35 |
C |
T |
2: 158,659,335 (GRCm39) |
T168I |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,327,925 (GRCm39) |
S2100P |
probably benign |
Het |
| Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
| Egflam |
A |
C |
15: 7,283,004 (GRCm39) |
L351R |
possibly damaging |
Het |
| Elp2 |
T |
A |
18: 24,759,213 (GRCm39) |
D523E |
probably benign |
Het |
| Exo5 |
C |
A |
4: 120,778,881 (GRCm39) |
G328V |
probably damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,811 (GRCm39) |
M1T |
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,914,637 (GRCm39) |
N584S |
possibly damaging |
Het |
| Gbp3 |
T |
C |
3: 142,273,533 (GRCm39) |
V360A |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,859,977 (GRCm39) |
C353Y |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,524,965 (GRCm39) |
T244A |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,097 (GRCm39) |
I500T |
probably benign |
Het |
| Ifnl2 |
A |
T |
7: 28,208,707 (GRCm39) |
L115Q |
probably damaging |
Het |
| Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
| Inhbb |
A |
G |
1: 119,345,146 (GRCm39) |
L381P |
probably damaging |
Het |
| Irx3 |
A |
T |
8: 92,527,721 (GRCm39) |
S50T |
probably benign |
Het |
| Ivns1abp |
C |
T |
1: 151,235,896 (GRCm39) |
T363I |
probably benign |
Het |
| Izumo1 |
A |
T |
7: 45,272,323 (GRCm39) |
T35S |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,665,342 (GRCm39) |
S651P |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,771,539 (GRCm39) |
V232A |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,354,540 (GRCm39) |
Y427C |
probably damaging |
Het |
| Laptm4b |
T |
A |
15: 34,258,835 (GRCm39) |
N36K |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,916,363 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
G |
T |
2: 25,454,205 (GRCm39) |
Q1042K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,920,647 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
C |
A |
19: 11,608,725 (GRCm39) |
V176F |
possibly damaging |
Het |
| Myo3a |
T |
C |
2: 22,338,324 (GRCm39) |
V427A |
probably benign |
Het |
| Myo3a |
A |
C |
2: 22,401,110 (GRCm39) |
E626D |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,025 (GRCm39) |
L509* |
probably null |
Het |
| Ndufa5 |
A |
T |
6: 24,519,248 (GRCm39) |
D64E |
possibly damaging |
Het |
| Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,110,218 (GRCm39) |
V1775A |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,187,192 (GRCm39) |
S570P |
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,344,084 (GRCm39) |
V140A |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,205 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or4q3 |
T |
C |
14: 50,583,383 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,205 (GRCm39) |
L46S |
probably damaging |
Het |
| Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
| Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
| Osbpl5 |
A |
T |
7: 143,248,558 (GRCm39) |
L644Q |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,631,005 (GRCm39) |
W267R |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,330,820 (GRCm39) |
S132R |
possibly damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,073 (GRCm39) |
D123E |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,704,011 (GRCm39) |
S1348T |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,757,705 (GRCm39) |
W8R |
probably damaging |
Het |
| Rgs3 |
T |
G |
4: 62,544,173 (GRCm39) |
V315G |
probably damaging |
Het |
| Rora |
T |
A |
9: 69,269,151 (GRCm39) |
M82K |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
| Sag |
T |
C |
1: 87,740,713 (GRCm39) |
V45A |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,366,854 (GRCm39) |
E56G |
probably damaging |
Het |
| Sec24c |
T |
G |
14: 20,737,016 (GRCm39) |
V324G |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,979 (GRCm39) |
L748S |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,536,787 (GRCm39) |
D4186V |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,511 (GRCm39) |
E306G |
probably damaging |
Het |
| Sycp1 |
C |
A |
3: 102,806,165 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
C |
15: 54,923,446 (GRCm39) |
L277R |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,183,707 (GRCm39) |
T722I |
probably benign |
Het |
| Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,179,168 (GRCm39) |
T400A |
possibly damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,099,301 (GRCm39) |
H401R |
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
| Tln1 |
T |
G |
4: 43,544,645 (GRCm39) |
T1095P |
possibly damaging |
Het |
| Tmem147 |
A |
G |
7: 30,427,527 (GRCm39) |
Y72H |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,419,941 (GRCm39) |
N691S |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,934,718 (GRCm39) |
C811Y |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,007,183 (GRCm39) |
|
probably benign |
Het |
| Trpc4 |
T |
G |
3: 54,102,189 (GRCm39) |
L29R |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,226 (GRCm39) |
I890F |
probably damaging |
Het |
| Ttc23l |
C |
T |
15: 10,504,622 (GRCm39) |
E442K |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,947,596 (GRCm39) |
C506* |
probably null |
Het |
| Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
| Ugt1a6a |
C |
A |
1: 88,066,606 (GRCm39) |
S137R |
probably benign |
Het |
| Unc13a |
A |
G |
8: 72,111,111 (GRCm39) |
Y367H |
probably damaging |
Het |
| Vmn2r49 |
A |
G |
7: 9,710,233 (GRCm39) |
I833T |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,900 (GRCm39) |
D231G |
probably benign |
Het |
| Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
| Zfp804a |
G |
A |
2: 82,087,932 (GRCm39) |
S587N |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,754,003 (GRCm39) |
I219T |
probably benign |
Het |
|
| Other mutations in Cdc42bpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Cdc42bpa
|
APN |
1 |
179,933,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00807:Cdc42bpa
|
APN |
1 |
179,969,018 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00972:Cdc42bpa
|
APN |
1 |
179,902,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01084:Cdc42bpa
|
APN |
1 |
179,969,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL01149:Cdc42bpa
|
APN |
1 |
179,902,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01377:Cdc42bpa
|
APN |
1 |
179,892,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Cdc42bpa
|
APN |
1 |
179,978,723 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01657:Cdc42bpa
|
APN |
1 |
179,939,431 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01720:Cdc42bpa
|
APN |
1 |
179,938,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Cdc42bpa
|
APN |
1 |
179,921,989 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02234:Cdc42bpa
|
APN |
1 |
179,978,756 (GRCm39) |
nonsense |
probably null |
|
|
IGL02253:Cdc42bpa
|
APN |
1 |
179,859,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL02587:Cdc42bpa
|
APN |
1 |
179,921,510 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02671:Cdc42bpa
|
APN |
1 |
179,889,387 (GRCm39) |
missense |
probably benign |
|
|
IGL02746:Cdc42bpa
|
APN |
1 |
179,939,312 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02756:Cdc42bpa
|
APN |
1 |
179,936,824 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02994:Cdc42bpa
|
APN |
1 |
179,827,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Cdc42bpa
|
APN |
1 |
179,921,941 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Cdc42bpa
|
APN |
1 |
179,977,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0022:Cdc42bpa
|
UTSW |
1 |
179,788,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4142001:Cdc42bpa
|
UTSW |
1 |
179,859,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Cdc42bpa
|
UTSW |
1 |
179,788,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Cdc42bpa
|
UTSW |
1 |
179,983,347 (GRCm39) |
intron |
probably benign |
|
|
R0472:Cdc42bpa
|
UTSW |
1 |
179,867,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Cdc42bpa
|
UTSW |
1 |
179,928,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0691:Cdc42bpa
|
UTSW |
1 |
179,972,400 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0738:Cdc42bpa
|
UTSW |
1 |
179,827,027 (GRCm39) |
splice site |
probably benign |
|
|
R1547:Cdc42bpa
|
UTSW |
1 |
179,902,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Cdc42bpa
|
UTSW |
1 |
179,921,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1601:Cdc42bpa
|
UTSW |
1 |
179,892,566 (GRCm39) |
nonsense |
probably null |
|
|
R1709:Cdc42bpa
|
UTSW |
1 |
179,894,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Cdc42bpa
|
UTSW |
1 |
179,974,533 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2279:Cdc42bpa
|
UTSW |
1 |
179,864,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2357:Cdc42bpa
|
UTSW |
1 |
179,894,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2373:Cdc42bpa
|
UTSW |
1 |
179,939,349 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2570:Cdc42bpa
|
UTSW |
1 |
179,977,742 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3709:Cdc42bpa
|
UTSW |
1 |
179,892,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Cdc42bpa
|
UTSW |
1 |
179,892,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Cdc42bpa
|
UTSW |
1 |
179,972,451 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3854:Cdc42bpa
|
UTSW |
1 |
179,983,543 (GRCm39) |
intron |
probably benign |
|
|
R3855:Cdc42bpa
|
UTSW |
1 |
179,983,543 (GRCm39) |
intron |
probably benign |
|
|
R3917:Cdc42bpa
|
UTSW |
1 |
179,933,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4604:Cdc42bpa
|
UTSW |
1 |
179,936,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4622:Cdc42bpa
|
UTSW |
1 |
179,902,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4664:Cdc42bpa
|
UTSW |
1 |
179,972,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Cdc42bpa
|
UTSW |
1 |
179,972,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4887:Cdc42bpa
|
UTSW |
1 |
179,972,200 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4989:Cdc42bpa
|
UTSW |
1 |
179,965,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Cdc42bpa
|
UTSW |
1 |
179,892,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Cdc42bpa
|
UTSW |
1 |
179,900,018 (GRCm39) |
nonsense |
probably null |
|
|
R5077:Cdc42bpa
|
UTSW |
1 |
179,922,098 (GRCm39) |
intron |
probably benign |
|
|
R5196:Cdc42bpa
|
UTSW |
1 |
179,899,978 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5276:Cdc42bpa
|
UTSW |
1 |
179,965,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Cdc42bpa
|
UTSW |
1 |
179,911,998 (GRCm39) |
missense |
probably benign |
|
|
R5364:Cdc42bpa
|
UTSW |
1 |
179,894,747 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5372:Cdc42bpa
|
UTSW |
1 |
179,892,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Cdc42bpa
|
UTSW |
1 |
179,966,085 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5405:Cdc42bpa
|
UTSW |
1 |
179,894,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Cdc42bpa
|
UTSW |
1 |
179,933,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5713:Cdc42bpa
|
UTSW |
1 |
179,911,975 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6012:Cdc42bpa
|
UTSW |
1 |
179,892,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Cdc42bpa
|
UTSW |
1 |
179,939,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Cdc42bpa
|
UTSW |
1 |
179,921,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6609:Cdc42bpa
|
UTSW |
1 |
179,928,839 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7122:Cdc42bpa
|
UTSW |
1 |
179,892,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Cdc42bpa
|
UTSW |
1 |
179,889,362 (GRCm39) |
nonsense |
probably null |
|
|
R7670:Cdc42bpa
|
UTSW |
1 |
179,892,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Cdc42bpa
|
UTSW |
1 |
179,921,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Cdc42bpa
|
UTSW |
1 |
179,896,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Cdc42bpa
|
UTSW |
1 |
179,989,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8378:Cdc42bpa
|
UTSW |
1 |
179,989,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8794:Cdc42bpa
|
UTSW |
1 |
179,894,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Cdc42bpa
|
UTSW |
1 |
179,896,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Cdc42bpa
|
UTSW |
1 |
179,958,373 (GRCm39) |
intron |
probably benign |
|
|
R9012:Cdc42bpa
|
UTSW |
1 |
179,859,077 (GRCm39) |
missense |
|
|
|
R9110:Cdc42bpa
|
UTSW |
1 |
179,945,258 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9178:Cdc42bpa
|
UTSW |
1 |
179,958,401 (GRCm39) |
missense |
|
|
|
R9184:Cdc42bpa
|
UTSW |
1 |
179,972,301 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9204:Cdc42bpa
|
UTSW |
1 |
179,939,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Cdc42bpa
|
UTSW |
1 |
179,933,638 (GRCm39) |
missense |
probably benign |
|
|
R9230:Cdc42bpa
|
UTSW |
1 |
179,933,638 (GRCm39) |
missense |
probably benign |
|
|
R9299:Cdc42bpa
|
UTSW |
1 |
179,972,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Cdc42bpa
|
UTSW |
1 |
179,921,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Cdc42bpa
|
UTSW |
1 |
179,969,048 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9461:Cdc42bpa
|
UTSW |
1 |
179,969,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Cdc42bpa
|
UTSW |
1 |
179,939,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0026:Cdc42bpa
|
UTSW |
1 |
179,788,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cdc42bpa
|
UTSW |
1 |
179,892,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATTCAGCCTAGTCCCGTTTGACC -3'
(R):5'- TGCTGTCTTCCCAGCCAAAGTC -3'
Sequencing Primer
(F):5'- GTTTGACCCTGGGACACACTAC -3'
(R):5'- CCCAGCCAAAGTCTTCTCTTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation