Incidental Mutation 'R2570:Cdc42bpa'
| ID |
252310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
040428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R2570 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 179977742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1518
(R1518Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076687]
[ENSMUST00000097450]
[ENSMUST00000097453]
[ENSMUST00000111117]
[ENSMUST00000135056]
[ENSMUST00000212756]
|
| AlphaFold |
Q3UU96 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076687
AA Change: R1437Q
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: R1437Q
| 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 |
possibly damaging
Transcript: ENSMUST00000097450
AA Change: R1518Q
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: R1518Q
| 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 |
possibly damaging
Transcript: ENSMUST00000097453
AA Change: R1490Q
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: R1490Q
| 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 |
possibly damaging
Transcript: ENSMUST00000111117
AA Change: R1531Q
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: R1531Q
| 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 |
unknown
Transcript: ENSMUST00000133890
AA Change: R846Q
|
| SMART Domains |
Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: R846Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
109 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
175 |
235 |
1.4e-29 |
PFAM |
|
C1
|
329 |
378 |
4.09e-7 |
SMART |
|
PH
|
399 |
519 |
6.02e-8 |
SMART |
|
CNH
|
544 |
821 |
3.37e-17 |
SMART |
|
low complexity region
|
866 |
878 |
N/A |
INTRINSIC |
|
PBD
|
887 |
922 |
2.05e-10 |
SMART |
|
low complexity region
|
941 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1030 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135056
|
| SMART Domains |
Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DMPK_coil
|
59 |
119 |
9e-30 |
PFAM |
|
low complexity region
|
148 |
156 |
N/A |
INTRINSIC |
|
C1
|
229 |
278 |
4.09e-7 |
SMART |
|
PH
|
299 |
419 |
6.02e-8 |
SMART |
|
CNH
|
444 |
721 |
3.37e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143176
AA Change: R720Q
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: R720Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DMPK_coil
|
84 |
144 |
1.3e-29 |
PFAM |
|
C1
|
203 |
252 |
4.09e-7 |
SMART |
|
PH
|
273 |
393 |
6.02e-8 |
SMART |
|
CNH
|
418 |
695 |
3.37e-17 |
SMART |
|
low complexity region
|
740 |
752 |
N/A |
INTRINSIC |
|
PBD
|
761 |
796 |
1.02e-5 |
SMART |
|
PBD
|
802 |
839 |
2.21e-1 |
SMART |
|
low complexity region
|
877 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
966 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212756
AA Change: R1547Q
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195719
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,768,267 (GRCm39) |
N763I |
probably damaging |
Het |
| Actr8 |
T |
C |
14: 29,709,239 (GRCm39) |
V281A |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,811 (GRCm39) |
N411K |
probably damaging |
Het |
| Adamdec1 |
T |
A |
14: 68,816,657 (GRCm39) |
Q77L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,085,878 (GRCm39) |
F59Y |
possibly damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,192,163 (GRCm39) |
N178S |
probably benign |
Het |
| Aldh1a7 |
T |
A |
19: 20,677,320 (GRCm39) |
T434S |
probably benign |
Het |
| Bcl10 |
T |
A |
3: 145,638,785 (GRCm39) |
N142K |
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,402 (GRCm39) |
I231M |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,496,649 (GRCm39) |
L2307* |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Cdk12 |
T |
G |
11: 98,094,618 (GRCm39) |
M142R |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
C |
T |
13: 113,455,121 (GRCm39) |
T389I |
probably benign |
Het |
| Cyp2c50 |
C |
G |
19: 40,078,764 (GRCm39) |
H90D |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,138,847 (GRCm39) |
M480T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,734,795 (GRCm39) |
F57L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,443,029 (GRCm39) |
F355L |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,609 (GRCm39) |
R339G |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,624,490 (GRCm39) |
S840R |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,023 (GRCm39) |
Y35N |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,705,753 (GRCm39) |
V811A |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,061,045 (GRCm39) |
V1114E |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,924,740 (GRCm39) |
R28L |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,605 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Itgal |
T |
C |
7: 126,913,268 (GRCm39) |
F622L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,130,865 (GRCm39) |
E451K |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,601,648 (GRCm39) |
F256I |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,951,354 (GRCm39) |
D1033V |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,982,043 (GRCm39) |
D1757E |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,659,358 (GRCm39) |
Y212H |
probably damaging |
Het |
| Lsm10 |
T |
C |
4: 125,991,716 (GRCm39) |
L24P |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,761 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Mtfp1 |
T |
C |
11: 4,044,504 (GRCm39) |
E27G |
probably damaging |
Het |
| Ncaph2 |
C |
A |
15: 89,254,678 (GRCm39) |
D399E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,105,864 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
C |
12: 85,379,320 (GRCm39) |
Y195* |
probably null |
Het |
| Npas1 |
T |
C |
7: 16,208,628 (GRCm39) |
D83G |
probably damaging |
Het |
| Nrsn2 |
A |
T |
2: 152,211,741 (GRCm39) |
F97I |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,503 (GRCm39) |
N10S |
probably benign |
Het |
| Or2ag12 |
A |
G |
7: 106,276,874 (GRCm39) |
I273T |
probably benign |
Het |
| Or55b10 |
T |
C |
7: 102,143,106 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,305 (GRCm39) |
L292Q |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,665 (GRCm39) |
T283S |
probably benign |
Het |
| Pdk1 |
A |
C |
2: 71,703,904 (GRCm39) |
D64A |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,443 (GRCm39) |
T147A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,739,539 (GRCm39) |
A631T |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,988,870 (GRCm39) |
A660E |
possibly damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,336,787 (GRCm39) |
V55E |
possibly damaging |
Het |
| Shank2 |
A |
T |
7: 143,622,507 (GRCm39) |
I214F |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,433 (GRCm39) |
N186S |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,121 (GRCm39) |
|
noncoding transcript |
Het |
| Stradb |
C |
T |
1: 59,027,743 (GRCm39) |
T91I |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,721 (GRCm39) |
I359V |
probably benign |
Het |
| Tbl3 |
A |
T |
17: 24,922,290 (GRCm39) |
M405K |
possibly damaging |
Het |
| Tecta |
G |
T |
9: 42,243,848 (GRCm39) |
D2001E |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
A |
13: 56,786,521 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
T |
19: 10,837,106 (GRCm39) |
L612Q |
probably null |
Het |
| Tnf |
T |
C |
17: 35,419,476 (GRCm39) |
N102S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,185,156 (GRCm39) |
V31D |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,140 (GRCm39) |
F248L |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,036,744 (GRCm39) |
V408A |
probably benign |
Het |
| Vmn1r159 |
T |
C |
7: 22,542,307 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,585 (GRCm39) |
L413H |
probably damaging |
Het |
| Zbtb2 |
T |
G |
10: 4,318,673 (GRCm39) |
N451T |
probably damaging |
Het |
| Zfp593 |
C |
A |
4: 133,972,869 (GRCm39) |
|
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 |
|
R0609:Cdc42bpa
|
UTSW |
1 |
179,867,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGTGAGACTGTTTTGTAAGCTATGC -3'
(R):5'- GCTGAGTGACAAATTTTCAGAGAC -3'
Sequencing Primer
(F):5'- GCGTATTCCATGGAAAATTATTGC -3'
(R):5'- AGACTCTTTCTTCTGATTCTAGACAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation