Incidental Mutation 'R2101:Cdc42bpa'
| ID |
230478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
040105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R2101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 179974533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1464
(V1464L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076687]
[ENSMUST00000097450]
[ENSMUST00000097453]
[ENSMUST00000111117]
[ENSMUST00000135056]
[ENSMUST00000212756]
|
| AlphaFold |
Q3UU96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076687
AA Change: V1370L
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: V1370L
| 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: V1451L
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: V1451L
| 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: V1423L
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: V1423L
| 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: V1464L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: V1464L
| 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: V779L
|
| SMART Domains |
Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: V779L
| 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
AA Change: V680L
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490
AA Change: V680L
| 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: V653L
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: V653L
| 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 |
probably benign
Transcript: ENSMUST00000212756
AA Change: V1480L
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195719
|
| Meta Mutation Damage Score |
0.3543 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
| Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
| Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
| Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
| Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Myo10 |
T |
A |
15: 25,722,345 (GRCm39) |
L186Q |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
| Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
| Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 22,956,466 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
| Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,507,004 (GRCm39) |
M1193K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
| Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
| Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
| Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,023,567 (GRCm39) |
V283E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,000,595 (GRCm39) |
L552* |
probably null |
Het |
| Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
| Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
| Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
| Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
| Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
| Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
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 |
|
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'- GCCCAACTCTTTAAAGTGCAATG -3'
(R):5'- TCGTGAGCATGGCCTTATG -3'
Sequencing Primer
(F):5'- GTGCAATGAAAGTTCTTGTTTGAC -3'
(R):5'- GCCGCACTGCTACGTACAATG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation