Incidental Mutation 'R4665:Cdc42bpa'
| ID |
351802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpa
|
| Ensembl Gene |
ENSMUSG00000026490 |
| Gene Name |
CDC42 binding protein kinase alpha |
| Synonyms |
DMPK-like, A930014J19Rik |
| MMRRC Submission |
041923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R4665 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179788037-179993168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179972130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 527
(T527A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114333
(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: T1217A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: T1217A
| 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: T1298A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: T1298A
| 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: T1270A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: T1270A
| 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: T1311A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: T1311A
| 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: T626A
|
| SMART Domains |
Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: T626A
| 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 damaging
Transcript: ENSMUST00000135056
AA Change: T527A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490
AA Change: T527A
| 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: T500A
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: T500A
| 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: T1327A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195719
|
| Meta Mutation Damage Score |
0.1969 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (89/90) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,902,059 (GRCm39) |
M76K |
probably null |
Het |
| Abcc4 |
A |
G |
14: 118,766,414 (GRCm39) |
I886T |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,992 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,787,947 (GRCm39) |
T905A |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,827,312 (GRCm39) |
F969L |
possibly damaging |
Het |
| Arhgef4 |
G |
T |
1: 34,845,113 (GRCm39) |
G1439V |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,375,529 (GRCm39) |
W2097R |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
| AU016765 |
T |
A |
17: 64,826,916 (GRCm39) |
|
noncoding transcript |
Het |
| Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
| Chmp7 |
A |
T |
14: 69,958,404 (GRCm39) |
V255D |
probably damaging |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,949,466 (GRCm39) |
S61P |
probably damaging |
Het |
| Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
| Crygn |
T |
A |
5: 24,956,019 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
C |
T |
3: 102,954,388 (GRCm39) |
T386M |
probably damaging |
Het |
| Cux1 |
G |
A |
5: 136,315,653 (GRCm39) |
T1129I |
probably damaging |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,190,835 (GRCm39) |
V11A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,084,793 (GRCm39) |
E880G |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,769,007 (GRCm39) |
Y67* |
probably null |
Het |
| Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
| Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,637,988 (GRCm39) |
W104R |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,730,826 (GRCm39) |
I860T |
probably benign |
Het |
| Garem2 |
C |
A |
5: 30,319,665 (GRCm39) |
R376S |
probably damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,408 (GRCm39) |
T377A |
probably damaging |
Het |
| Gm2431 |
A |
T |
7: 141,811,440 (GRCm39) |
C155S |
unknown |
Het |
| Gm5814 |
A |
G |
17: 47,721,288 (GRCm39) |
M1V |
probably null |
Het |
| Gm5901 |
C |
G |
7: 105,026,438 (GRCm39) |
Q69E |
possibly damaging |
Het |
| Gm9945 |
A |
G |
11: 53,371,202 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,908,956 (GRCm39) |
V486A |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
| Hoxa11 |
T |
A |
6: 52,220,483 (GRCm39) |
N267Y |
probably damaging |
Het |
| Ifngr2 |
C |
A |
16: 91,356,926 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,442,598 (GRCm39) |
Q190K |
possibly damaging |
Het |
| Iqch |
A |
G |
9: 63,352,853 (GRCm39) |
V899A |
probably damaging |
Het |
| Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
| Lig3 |
G |
A |
11: 82,691,076 (GRCm39) |
V110M |
probably damaging |
Het |
| Lin54 |
C |
A |
5: 100,600,943 (GRCm39) |
Q262H |
possibly damaging |
Het |
| Lingo3 |
G |
A |
10: 80,671,372 (GRCm39) |
T186I |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Ly86 |
T |
A |
13: 37,559,010 (GRCm39) |
F70I |
probably damaging |
Het |
| Mospd2 |
A |
T |
X: 163,730,329 (GRCm39) |
S301T |
probably benign |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,395,705 (GRCm39) |
|
probably null |
Het |
| Nme8 |
C |
G |
13: 19,858,605 (GRCm39) |
A78P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,015,578 (GRCm39) |
V965M |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,220 (GRCm39) |
I57K |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,358,967 (GRCm39) |
K592E |
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,514,343 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
A |
T |
13: 74,465,325 (GRCm39) |
M1K |
probably null |
Het |
| Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,310,852 (GRCm39) |
A28V |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,975,469 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,814,300 (GRCm39) |
|
probably null |
Het |
| Ptprg |
A |
C |
14: 12,215,288 (GRCm38) |
I1092L |
possibly damaging |
Het |
| Pxylp1 |
A |
C |
9: 96,707,338 (GRCm39) |
I281M |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,418,178 (GRCm39) |
R78W |
probably damaging |
Het |
| Retreg2 |
G |
T |
1: 75,121,310 (GRCm39) |
L195F |
probably damaging |
Het |
| Rgs20 |
G |
C |
1: 5,091,231 (GRCm39) |
F66L |
probably benign |
Het |
| Ripk4 |
C |
T |
16: 97,556,273 (GRCm39) |
V157I |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,765,571 (GRCm39) |
|
probably null |
Het |
| Scaper |
A |
T |
9: 55,819,339 (GRCm39) |
S125R |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,302,970 (GRCm39) |
|
probably benign |
Het |
| Slc35f6 |
T |
C |
5: 30,812,957 (GRCm39) |
L37P |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,335,972 (GRCm39) |
|
probably benign |
Het |
| Slc9a5 |
A |
G |
8: 106,094,760 (GRCm39) |
K784E |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,707,053 (GRCm39) |
V455A |
probably damaging |
Het |
| Ssbp2 |
A |
T |
13: 91,687,454 (GRCm39) |
I46L |
possibly damaging |
Het |
| Stil |
A |
G |
4: 114,898,841 (GRCm39) |
D1157G |
probably benign |
Het |
| Tax1bp1 |
T |
A |
6: 52,714,116 (GRCm39) |
C271S |
probably benign |
Het |
| Tdpoz6 |
G |
A |
3: 93,599,776 (GRCm39) |
H198Y |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,007 (GRCm39) |
M2014L |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,457,260 (GRCm39) |
D133G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,320,150 (GRCm39) |
R2233W |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vgll1 |
A |
G |
X: 56,137,792 (GRCm39) |
R54G |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,306 (GRCm39) |
T673A |
probably benign |
Het |
| Zfp169 |
C |
T |
13: 48,644,339 (GRCm39) |
|
probably benign |
Het |
| Zfp319 |
G |
A |
8: 96,052,201 (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 |
|
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 |
|
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'- GCCTCTTCCTTCATGTAGAGATTG -3'
(R):5'- GCATATTGCATGGACCTCCTTC -3'
Sequencing Primer
(F):5'- CTTCCTTCATGTAGAGATTGTTAGAG -3'
(R):5'- GATGCTCACTGAAGATGGCCATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation