Incidental Mutation 'R6029:Cdc42bpa'
| ID |
480224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
044201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R6029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 179939352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 877
(S877P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076687]
[ENSMUST00000097450]
[ENSMUST00000097453]
[ENSMUST00000111117]
[ENSMUST00000134959]
[ENSMUST00000135056]
[ENSMUST00000212756]
|
| AlphaFold |
Q3UU96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076687
AA Change: S796P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: S796P
| 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: S877P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: S877P
| 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: S877P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: S877P
| 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: S877P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: S877P
| 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: S170P
|
| SMART Domains |
Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: S170P
| 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 damaging
Transcript: ENSMUST00000135056
AA Change: S55P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490
AA Change: S55P
| 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 |
probably damaging
Transcript: ENSMUST00000212756
AA Change: S877P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143176
AA Change: S79P
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: S79P
| 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 |
unknown
Transcript: ENSMUST00000145181
AA Change: S25P
|
| SMART Domains |
Protein: ENSMUSP00000118039
Gene: ENSMUSG00000026490
AA Change: S25P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194974
|
| Meta Mutation Damage Score |
0.1555 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
97% (87/90) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,524,370 (GRCm39) |
|
probably null |
Het |
| Adi1 |
G |
A |
12: 28,729,318 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,066,243 (GRCm39) |
E4371G |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Aspm |
T |
G |
1: 139,408,728 (GRCm39) |
C2538W |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,732,367 (GRCm39) |
|
probably benign |
Het |
| Btbd16 |
T |
C |
7: 130,420,802 (GRCm39) |
V353A |
probably benign |
Het |
| Cad |
C |
T |
5: 31,212,327 (GRCm39) |
S10L |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,405,552 (GRCm39) |
V1660D |
probably benign |
Het |
| Clrn2 |
G |
T |
5: 45,617,528 (GRCm39) |
G133V |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,338,634 (GRCm39) |
I842V |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,614,548 (GRCm39) |
A434T |
probably benign |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,477 (GRCm39) |
V70L |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,612,388 (GRCm39) |
V317E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,663 (GRCm39) |
E1084G |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,157,646 (GRCm39) |
V827A |
probably benign |
Het |
| E030030I06Rik |
A |
G |
10: 22,024,832 (GRCm39) |
L27P |
unknown |
Het |
| Ero1b |
T |
A |
13: 12,589,714 (GRCm39) |
L39Q |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,888,609 (GRCm39) |
D123G |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,711,735 (GRCm39) |
F148L |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,922,746 (GRCm39) |
E218G |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,158,493 (GRCm39) |
D210E |
probably damaging |
Het |
| Gm10653 |
T |
A |
9: 62,748,796 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
A |
G |
7: 42,357,554 (GRCm39) |
L316S |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,127,990 (GRCm39) |
S561P |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,508,188 (GRCm39) |
K3699N |
probably benign |
Het |
| Itch |
T |
A |
2: 155,021,009 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
C |
T |
17: 27,317,145 (GRCm39) |
A800V |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,017,650 (GRCm39) |
M1052K |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,576 (GRCm39) |
M712T |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,852,104 (GRCm39) |
E137G |
probably damaging |
Het |
| Krt33a |
G |
A |
11: 99,903,289 (GRCm39) |
T251I |
probably benign |
Het |
| Lrrc4b |
G |
T |
7: 44,111,754 (GRCm39) |
R542L |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,401,126 (GRCm39) |
S653I |
probably damaging |
Het |
| Macrod2 |
G |
A |
2: 142,160,367 (GRCm39) |
V408M |
probably damaging |
Het |
| Macroh2a2 |
T |
C |
10: 61,583,541 (GRCm39) |
T200A |
possibly damaging |
Het |
| Mapkapk3 |
G |
T |
9: 107,166,425 (GRCm39) |
A40E |
possibly damaging |
Het |
| Mmp20 |
G |
A |
9: 7,639,302 (GRCm39) |
V157I |
probably benign |
Het |
| Mrps28 |
T |
C |
3: 8,988,805 (GRCm39) |
R18G |
possibly damaging |
Het |
| Msrb2 |
T |
A |
2: 19,399,122 (GRCm39) |
C162S |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,753 (GRCm39) |
Y216C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,953,523 (GRCm39) |
T1078P |
possibly damaging |
Het |
| Nectin3 |
T |
C |
16: 46,256,763 (GRCm39) |
Y91C |
probably benign |
Het |
| Nf2 |
G |
T |
11: 4,734,566 (GRCm39) |
|
probably null |
Het |
| Or10d1b |
G |
A |
9: 39,613,696 (GRCm39) |
A123V |
probably damaging |
Het |
| Or13a23-ps1 |
A |
T |
7: 140,118,789 (GRCm39) |
M120L |
unknown |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2y10 |
A |
T |
11: 49,455,428 (GRCm39) |
I227F |
possibly damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,380 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,310 (GRCm39) |
Y60* |
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Oxr1 |
T |
G |
15: 41,689,297 (GRCm39) |
L507W |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,481,883 (GRCm39) |
K1451M |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,735 (GRCm39) |
M1184V |
probably benign |
Het |
| Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
T |
C |
2: 158,597,137 (GRCm39) |
V257A |
possibly damaging |
Het |
| Prss56 |
G |
A |
1: 87,115,279 (GRCm39) |
W498* |
probably null |
Het |
| Ptpru |
A |
G |
4: 131,498,604 (GRCm39) |
F1329S |
probably damaging |
Het |
| Pusl1 |
A |
G |
4: 155,973,920 (GRCm39) |
F278S |
probably damaging |
Het |
| Qars1 |
A |
T |
9: 108,390,889 (GRCm39) |
L470F |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,734 (GRCm39) |
N181K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,775,114 (GRCm39) |
D262G |
probably damaging |
Het |
| Sh3gl2 |
G |
A |
4: 85,299,651 (GRCm39) |
V212M |
probably damaging |
Het |
| Sis |
G |
A |
3: 72,835,641 (GRCm39) |
T907I |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,529,374 (GRCm39) |
I456N |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,705,220 (GRCm39) |
C809S |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,707,133 (GRCm39) |
|
probably null |
Het |
| Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
| Speer1m |
A |
T |
5: 11,970,680 (GRCm39) |
L84F |
probably damaging |
Het |
| Spry1 |
T |
C |
3: 37,696,997 (GRCm39) |
I80T |
possibly damaging |
Het |
| St8sia2 |
A |
G |
7: 73,610,458 (GRCm39) |
L275P |
possibly damaging |
Het |
| Supt7l |
C |
A |
5: 31,684,331 (GRCm39) |
|
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,868,747 (GRCm39) |
K304N |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,184,655 (GRCm39) |
Y753N |
probably damaging |
Het |
| Topbp1 |
A |
T |
9: 103,222,152 (GRCm39) |
Q1341L |
probably benign |
Het |
| Trim14 |
G |
T |
4: 46,506,998 (GRCm39) |
A406E |
probably benign |
Het |
| Trp63 |
C |
T |
16: 25,686,964 (GRCm39) |
R393W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,754,489 (GRCm39) |
V1932A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,762,724 (GRCm39) |
M2399T |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,153 (GRCm39) |
N110S |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,916,408 (GRCm39) |
H845Q |
probably damaging |
Het |
| Usp44 |
G |
A |
10: 93,682,494 (GRCm39) |
D268N |
probably damaging |
Het |
| Vmn1r18 |
T |
G |
6: 57,367,451 (GRCm39) |
R34S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,478 (GRCm39) |
Y423* |
probably null |
Het |
| Wapl |
A |
T |
14: 34,461,204 (GRCm39) |
E1054V |
possibly damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,322,286 (GRCm39) |
Y392H |
probably damaging |
Het |
| Zdhhc2 |
A |
T |
8: 40,925,968 (GRCm39) |
Q321L |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,881,401 (GRCm39) |
D443G |
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 |
|
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 |
|
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'- CAAGTTGTGCATCAGTTCTACTC -3'
(R):5'- CCAGGCAAGCATTATACTACTGAATTG -3'
Sequencing Primer
(F):5'- GCATCAGTTCTACTCAGTTATCAGTG -3'
(R):5'- ACTGAATTGTATTCCTAGTCTTCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation