Incidental Mutation 'R8794:Cdc42bpa'
| ID |
671078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
068723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R8794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 179894816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 332
(N332I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106746
(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: N332I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: N332I
| 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: N332I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: N332I
| 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: N332I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: N332I
| 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: N332I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: N332I
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000212756
AA Change: N332I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (86/86) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,226,939 (GRCm39) |
V498D |
unknown |
Het |
| Actn1 |
C |
T |
12: 80,245,754 (GRCm39) |
|
probably benign |
Het |
| Actrt2 |
T |
C |
4: 154,751,176 (GRCm39) |
E320G |
probably damaging |
Het |
| Adamts7 |
C |
T |
9: 90,076,239 (GRCm39) |
Q1265* |
probably null |
Het |
| Adra1a |
A |
G |
14: 66,875,064 (GRCm39) |
N13S |
probably benign |
Het |
| Alpk3 |
G |
T |
7: 80,707,403 (GRCm39) |
R9L |
unknown |
Het |
| Ankrd42 |
A |
G |
7: 92,263,674 (GRCm39) |
F225L |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,011 (GRCm39) |
E736G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,826 (GRCm39) |
S24P |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,972,074 (GRCm39) |
P90S |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,904 (GRCm39) |
S2154P |
probably damaging |
Het |
| Cilp |
A |
G |
9: 65,186,535 (GRCm39) |
S877G |
probably benign |
Het |
| Clic6 |
T |
A |
16: 92,324,987 (GRCm39) |
S382T |
possibly damaging |
Het |
| Coq8a |
G |
T |
1: 180,006,773 (GRCm39) |
P85Q |
probably benign |
Het |
| Creb3l4 |
A |
G |
3: 90,145,225 (GRCm39) |
I309T |
probably benign |
Het |
| Cux2 |
T |
C |
5: 122,007,306 (GRCm39) |
E785G |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,144,800 (GRCm39) |
F685L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,035 (GRCm39) |
D469G |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,607,616 (GRCm39) |
V962E |
probably damaging |
Het |
| Esrrb |
A |
T |
12: 86,517,038 (GRCm39) |
S57C |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,250,628 (GRCm39) |
T320A |
possibly damaging |
Het |
| Farsb |
C |
T |
1: 78,401,678 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,907 (GRCm39) |
V400A |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,851 (GRCm39) |
M1715L |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,279,632 (GRCm39) |
T786A |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,594,330 (GRCm39) |
S886T |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,568,077 (GRCm39) |
S737P |
probably damaging |
Het |
| Gm525 |
A |
G |
11: 88,979,479 (GRCm39) |
N85S |
probably damaging |
Het |
| Gnpda1 |
T |
A |
18: 38,465,091 (GRCm39) |
D175V |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,123,015 (GRCm39) |
I655V |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,591,469 (GRCm39) |
T1910I |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ier2 |
A |
T |
8: 85,389,096 (GRCm39) |
D95E |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,370 (GRCm39) |
R547G |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,854 (GRCm39) |
S639C |
possibly damaging |
Het |
| Kif19b |
A |
G |
5: 140,461,785 (GRCm39) |
E529G |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,074,015 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
C |
18: 21,224,325 (GRCm39) |
T373P |
probably damaging |
Het |
| Mlh3 |
G |
A |
12: 85,282,497 (GRCm39) |
P1379S |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,605,032 (GRCm39) |
K1014* |
probably null |
Het |
| Nme1 |
A |
T |
11: 93,851,658 (GRCm39) |
F78I |
probably benign |
Het |
| Nos3 |
T |
A |
5: 24,576,745 (GRCm39) |
V458D |
probably damaging |
Het |
| Noxa1 |
A |
G |
2: 24,984,852 (GRCm39) |
F29L |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,624,958 (GRCm39) |
G1055D |
probably benign |
Het |
| Nutf2 |
A |
T |
8: 106,602,171 (GRCm39) |
|
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,556 (GRCm39) |
I460T |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,150 (GRCm39) |
Y256* |
probably null |
Het |
| Or4c113 |
T |
C |
2: 88,885,477 (GRCm39) |
M98V |
probably benign |
Het |
| Or5p78 |
A |
T |
7: 108,211,580 (GRCm39) |
D22V |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,630 (GRCm39) |
M73L |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,155,136 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Pde6d |
G |
A |
1: 86,475,209 (GRCm39) |
Q61* |
probably null |
Het |
| Pdpr |
A |
G |
8: 111,852,240 (GRCm39) |
T536A |
possibly damaging |
Het |
| Pias4 |
T |
A |
10: 80,999,846 (GRCm39) |
K69M |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,023,787 (GRCm39) |
D188E |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,224,007 (GRCm39) |
V270A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,482,801 (GRCm39) |
W456R |
probably damaging |
Het |
| Pmpcb |
T |
C |
5: 21,961,832 (GRCm39) |
V450A |
probably benign |
Het |
| Poln |
G |
A |
5: 34,286,871 (GRCm39) |
T99I |
possibly damaging |
Het |
| Prg2 |
A |
G |
2: 84,812,404 (GRCm39) |
D38G |
possibly damaging |
Het |
| Psmd7 |
A |
C |
8: 108,310,831 (GRCm39) |
Y138D |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Ranbp2 |
T |
A |
10: 58,328,414 (GRCm39) |
V2810E |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,067,648 (GRCm39) |
H411L |
probably damaging |
Het |
| Sapcd1 |
T |
C |
17: 35,246,814 (GRCm39) |
T25A |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,024,977 (GRCm39) |
I105V |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,513,396 (GRCm39) |
T158S |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,049,869 (GRCm39) |
S265R |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,902,629 (GRCm39) |
F524L |
probably benign |
Het |
| Slc2a13 |
C |
A |
15: 91,234,302 (GRCm39) |
G345C |
probably damaging |
Het |
| Sp110 |
A |
G |
1: 85,511,231 (GRCm39) |
|
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,439,803 (GRCm39) |
V109A |
probably benign |
Het |
| Tfcp2l1 |
A |
G |
1: 118,560,118 (GRCm39) |
N70S |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,553 (GRCm39) |
H218L |
probably benign |
Het |
| Tmprss11d |
G |
A |
5: 86,486,680 (GRCm39) |
T70I |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,765,114 (GRCm39) |
Q32L |
probably benign |
Het |
| Trav16n |
A |
C |
14: 53,588,867 (GRCm39) |
T48P |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,117,095 (GRCm39) |
Y110H |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,341,557 (GRCm39) |
E1266V |
probably damaging |
Het |
| Zfp423 |
A |
C |
8: 88,507,857 (GRCm39) |
L829R |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,029 (GRCm39) |
K658E |
possibly damaging |
Het |
| Zscan12 |
T |
A |
13: 21,547,847 (GRCm39) |
C10S |
possibly damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,687 (GRCm39) |
M389K |
probably damaging |
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 |
|
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 |
|
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'- AGTGTCACTGCTAAGTCATCAAAC -3'
(R):5'- GCAGGACAGGACATCTTCATAATG -3'
Sequencing Primer
(F):5'- GTAGACACTTTTCTAAGGGAAATGC -3'
(R):5'- GACAGGACATCTTCATAATGTCATAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation