Incidental Mutation 'R4604:Cdc42bpa'
| ID |
345836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
041816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R4604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179936759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 718
(H718R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076687]
[ENSMUST00000097450]
[ENSMUST00000097453]
[ENSMUST00000111117]
[ENSMUST00000134959]
[ENSMUST00000135056]
[ENSMUST00000212756]
|
| AlphaFold |
Q3UU96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076687
AA Change: H718R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: H718R
| 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 benign
Transcript: ENSMUST00000097450
AA Change: H799R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: H799R
| 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 benign
Transcript: ENSMUST00000097453
AA Change: H799R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: H799R
| 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 benign
Transcript: ENSMUST00000111117
AA Change: H799R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: H799R
| 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: H92R
|
| SMART Domains |
Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: H92R
| 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: 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 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: H1R
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: H1R
| 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 |
noncoding transcript
Transcript: ENSMUST00000194974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212756
AA Change: H799R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145181
|
| SMART Domains |
Protein: ENSMUSP00000118039
Gene: ENSMUSG00000026490
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DMPK_coil
|
30 |
90 |
1e-30 |
PFAM |
|
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
|
SCOP:d1faq__
|
163 |
185 |
2e-4 |
SMART |
|
Blast:C1
|
165 |
185 |
1e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
C |
T |
2: 156,699,074 (GRCm39) |
|
probably benign |
Het |
| Abcb6 |
G |
A |
1: 75,156,521 (GRCm39) |
T81I |
probably benign |
Het |
| Acp6 |
A |
G |
3: 97,083,075 (GRCm39) |
K362R |
probably benign |
Het |
| Adam26a |
A |
G |
8: 44,023,088 (GRCm39) |
M134T |
probably benign |
Het |
| Ankrd27 |
C |
T |
7: 35,327,915 (GRCm39) |
P812S |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
G |
A |
7: 126,047,795 (GRCm39) |
R672C |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,919,406 (GRCm39) |
W371C |
probably damaging |
Het |
| B3gnt2 |
T |
TTCACAAA |
11: 22,786,426 (GRCm39) |
|
probably null |
Het |
| Btnl6 |
T |
A |
17: 34,727,435 (GRCm39) |
D365V |
possibly damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,928 (GRCm39) |
L228Q |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,474,454 (GRCm39) |
K775E |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,173,445 (GRCm39) |
N1679T |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,948,993 (GRCm39) |
D271E |
possibly damaging |
Het |
| Cfap70 |
G |
T |
14: 20,493,729 (GRCm39) |
T124K |
probably benign |
Het |
| Ckap5 |
A |
T |
2: 91,408,476 (GRCm39) |
E890D |
probably benign |
Het |
| Col22a1 |
G |
T |
15: 71,824,188 (GRCm39) |
P569T |
probably benign |
Het |
| Colq |
A |
T |
14: 31,267,060 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,664,278 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,868,211 (GRCm39) |
S770T |
possibly damaging |
Het |
| Cul9 |
C |
A |
17: 46,841,072 (GRCm39) |
V733L |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,019,830 (GRCm39) |
D256G |
possibly damaging |
Het |
| Dclk3 |
A |
T |
9: 111,298,253 (GRCm39) |
D599V |
probably damaging |
Het |
| Defb26 |
T |
A |
2: 152,350,104 (GRCm39) |
I59F |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,106,643 (GRCm39) |
V1646A |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,960 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,713,836 (GRCm39) |
L1867P |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,140,995 (GRCm39) |
H1344R |
probably benign |
Het |
| Enam |
A |
C |
5: 88,652,142 (GRCm39) |
Q1217P |
possibly damaging |
Het |
| Fbf1 |
A |
T |
11: 116,049,748 (GRCm39) |
D91E |
possibly damaging |
Het |
| Fbxo7 |
T |
G |
10: 85,882,666 (GRCm39) |
W393G |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,953,420 (GRCm39) |
T599A |
probably damaging |
Het |
| Gfy |
T |
A |
7: 44,826,612 (GRCm39) |
I409F |
possibly damaging |
Het |
| Gm19345 |
T |
A |
7: 19,591,433 (GRCm39) |
|
probably null |
Het |
| Gm4787 |
A |
G |
12: 81,425,987 (GRCm39) |
M57T |
probably benign |
Het |
| Gper1 |
A |
G |
5: 139,412,480 (GRCm39) |
E275G |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,435,882 (GRCm39) |
E803G |
probably damaging |
Het |
| Gstm3 |
G |
A |
3: 107,875,513 (GRCm39) |
P39L |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,904,767 (GRCm39) |
V142D |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,747 (GRCm39) |
I383N |
probably damaging |
Het |
| Hdac10 |
C |
A |
15: 89,009,600 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
A |
C |
2: 104,269,674 (GRCm39) |
M505R |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,225 (GRCm39) |
P1822S |
probably benign |
Het |
| Hsd17b13 |
G |
T |
5: 104,104,124 (GRCm39) |
H281N |
unknown |
Het |
| Ilrun |
T |
C |
17: 28,039,289 (GRCm39) |
D7G |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,649,848 (GRCm39) |
I222N |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,334,296 (GRCm39) |
L7F |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,359,106 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
G |
T |
3: 89,427,727 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,328,775 (GRCm39) |
D218A |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,127 (GRCm39) |
N195Y |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,851,409 (GRCm39) |
N72I |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,447,527 (GRCm39) |
I479T |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,764 (GRCm39) |
S80P |
probably benign |
Het |
| Mknk1 |
A |
G |
4: 115,735,224 (GRCm39) |
E364G |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,577,920 (GRCm39) |
C458Y |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,712,631 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
C |
10: 127,547,007 (GRCm39) |
W356R |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,631,069 (GRCm39) |
V2186A |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,427,992 (GRCm39) |
S185P |
probably damaging |
Het |
| Nhsl1 |
A |
C |
10: 18,407,158 (GRCm39) |
K1397Q |
probably damaging |
Het |
| Nmbr |
C |
T |
10: 14,645,908 (GRCm39) |
R261W |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,365 (GRCm39) |
S137P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,971,031 (GRCm39) |
G2494D |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,013,572 (GRCm39) |
K1092E |
probably damaging |
Het |
| Oosp2 |
A |
C |
19: 11,627,047 (GRCm39) |
I92S |
probably benign |
Het |
| Or5ar1 |
C |
T |
2: 85,671,526 (GRCm39) |
C203Y |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,616 (GRCm39) |
D518G |
probably damaging |
Het |
| Pde11a |
G |
T |
2: 76,168,137 (GRCm39) |
T272K |
possibly damaging |
Het |
| Plekha2 |
T |
A |
8: 25,549,851 (GRCm39) |
Q162L |
probably null |
Het |
| Prkag2 |
T |
A |
5: 25,083,732 (GRCm39) |
I84F |
probably damaging |
Het |
| Prm2 |
G |
T |
16: 10,609,613 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,032,035 (GRCm39) |
C800S |
probably damaging |
Het |
| Prr5l |
A |
T |
2: 101,559,793 (GRCm39) |
C158S |
probably benign |
Het |
| Prrt3 |
C |
A |
6: 113,475,198 (GRCm39) |
C8F |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,728 (GRCm39) |
T32A |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,887 (GRCm39) |
V337A |
probably benign |
Het |
| Sall1 |
T |
A |
8: 89,756,969 (GRCm39) |
Q1045L |
probably damaging |
Het |
| Sec22c |
T |
C |
9: 121,524,708 (GRCm39) |
Y25C |
probably damaging |
Het |
| Serpina3i |
A |
T |
12: 104,234,036 (GRCm39) |
T335S |
possibly damaging |
Het |
| Setd1b |
TCCACCACCACCACCACCACCACCA |
TCCACCACCACCACCACCACCA |
5: 123,290,137 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,428,529 (GRCm39) |
I279N |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,727,319 (GRCm39) |
T83I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,678,658 (GRCm39) |
F222S |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,682,353 (GRCm39) |
T463S |
probably benign |
Het |
| Spsb4 |
C |
A |
9: 96,877,931 (GRCm39) |
A131S |
probably benign |
Het |
| Sting1 |
T |
A |
18: 35,871,743 (GRCm39) |
I170F |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,014,484 (GRCm39) |
E3225G |
probably damaging |
Het |
| Tchp |
G |
A |
5: 114,857,634 (GRCm39) |
|
probably null |
Het |
| Tekt4 |
T |
A |
17: 25,690,749 (GRCm39) |
D18E |
probably benign |
Het |
| Timm50 |
A |
G |
7: 28,010,443 (GRCm39) |
V37A |
probably benign |
Het |
| Tlx2 |
A |
C |
6: 83,045,741 (GRCm39) |
*285G |
probably null |
Het |
| Tshz1 |
C |
A |
18: 84,031,499 (GRCm39) |
D970Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,700,805 (GRCm39) |
V50E |
probably damaging |
Het |
| Txndc17 |
T |
A |
11: 72,100,274 (GRCm39) |
S113T |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,019,305 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,698 (GRCm39) |
S131P |
probably benign |
Het |
| Uncx |
A |
T |
5: 139,529,837 (GRCm39) |
H30L |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,912,303 (GRCm39) |
D1007E |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,701,038 (GRCm39) |
V1083A |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,047,479 (GRCm39) |
H765Q |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,330 (GRCm39) |
D37G |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,712,924 (GRCm39) |
T686A |
possibly damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,124 (GRCm39) |
R412C |
probably damaging |
Het |
| Znrf2 |
T |
A |
6: 54,855,425 (GRCm39) |
C71* |
probably null |
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 |
|
|
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'- TCATAATGGGCTTGGCAAAAG -3'
(R):5'- AAGACACCAAGGTTGTCAGG -3'
Sequencing Primer
(F):5'- AAATTCTCCAGTGCGGCC -3'
(R):5'- CCAAGGTTGTCAGGAACTCAGTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation