Incidental Mutation 'R9256:Cdc42bpg'
| ID |
701908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R9256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6361067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 231
(A231T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: A231T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: A231T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
337 |
1.63e-87 |
SMART |
|
S_TK_X
|
338 |
400 |
7.85e-12 |
SMART |
|
coiled coil region
|
444 |
551 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
675 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
743 |
801 |
4.6e-21 |
PFAM |
|
low complexity region
|
861 |
873 |
N/A |
INTRINSIC |
|
C1
|
878 |
926 |
1.78e-7 |
SMART |
|
PH
|
947 |
1067 |
3.57e-10 |
SMART |
|
Pfam:CNH
|
1096 |
1362 |
7.5e-56 |
PFAM |
|
low complexity region
|
1401 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1551 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,945,930 (GRCm39) |
Y21C |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,060,218 (GRCm39) |
I290F |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,124,052 (GRCm39) |
V1244I |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,025,945 (GRCm39) |
I450N |
probably damaging |
Het |
| AL732309.1 |
A |
T |
2: 25,136,211 (GRCm39) |
M1K |
probably null |
Het |
| Alox15 |
C |
T |
11: 70,236,370 (GRCm39) |
G510D |
possibly damaging |
Het |
| Arhgef16 |
C |
A |
4: 154,363,502 (GRCm39) |
E685* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,038 (GRCm39) |
E643G |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,423,061 (GRCm39) |
Q171K |
probably damaging |
Het |
| Bdkrb2 |
A |
G |
12: 105,558,352 (GRCm39) |
T198A |
probably benign |
Het |
| C7 |
T |
C |
15: 5,023,645 (GRCm39) |
E721G |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,797,848 (GRCm39) |
Y823H |
unknown |
Het |
| Cd74 |
T |
C |
18: 60,944,366 (GRCm39) |
V192A |
probably benign |
Het |
| Cers6 |
G |
A |
2: 68,777,706 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,788,637 (GRCm39) |
I555M |
probably benign |
Het |
| Cracd |
T |
G |
5: 76,988,757 (GRCm39) |
V36G |
unknown |
Het |
| Crnkl1 |
A |
G |
2: 145,770,216 (GRCm39) |
V209A |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,971,272 (GRCm39) |
T98A |
|
Het |
| Enpp5 |
T |
C |
17: 44,396,414 (GRCm39) |
I442T |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,310,641 (GRCm39) |
Y427C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,674,358 (GRCm39) |
S665A |
possibly damaging |
Het |
| Igkv6-20 |
T |
C |
6: 70,313,417 (GRCm39) |
Y16C |
probably benign |
Het |
| Ints10 |
A |
G |
8: 69,261,129 (GRCm39) |
R370G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,446,198 (GRCm39) |
I742N |
possibly damaging |
Het |
| Kcnn3 |
T |
C |
3: 89,574,407 (GRCm39) |
Y640H |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,341,303 (GRCm39) |
V959A |
probably benign |
Het |
| Marcksl1 |
A |
G |
4: 129,408,816 (GRCm39) |
S132G |
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,010 (GRCm39) |
K83N |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,760,862 (GRCm39) |
E384G |
possibly damaging |
Het |
| Morn5 |
G |
T |
2: 35,939,553 (GRCm39) |
G5W |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,432,671 (GRCm39) |
S36P |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,490,777 (GRCm39) |
F494L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,274,534 (GRCm39) |
N336S |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,544,790 (GRCm39) |
N22S |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or10x4 |
C |
T |
1: 174,219,109 (GRCm39) |
T158I |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,135 (GRCm39) |
I234F |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,747,387 (GRCm39) |
I288T |
probably damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,498 (GRCm39) |
Y123* |
probably null |
Het |
| Or9r7 |
A |
G |
10: 129,962,335 (GRCm39) |
V197A |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,047 (GRCm39) |
N724Y |
|
Het |
| Pde8b |
G |
A |
13: 95,164,204 (GRCm39) |
R669C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,397,290 (GRCm39) |
|
probably null |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Prb1b |
T |
C |
6: 132,288,972 (GRCm39) |
N284S |
unknown |
Het |
| Prtg |
A |
T |
9: 72,758,977 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,219,776 (GRCm39) |
H1998L |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,356,450 (GRCm39) |
V133D |
probably benign |
Het |
| Rab35 |
C |
A |
5: 115,778,246 (GRCm39) |
R71S |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,054 (GRCm39) |
L46P |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,475,483 (GRCm39) |
|
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,209 (GRCm39) |
V245F |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,058,772 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,074,867 (GRCm39) |
S1154P |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,287,554 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,293,835 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
A |
T |
4: 53,848,924 (GRCm39) |
I110F |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,325,721 (GRCm39) |
I573T |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,235 (GRCm39) |
I1155M |
possibly damaging |
Het |
| Vipr1 |
A |
G |
9: 121,490,118 (GRCm39) |
I164V |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,623,925 (GRCm39) |
S1281A |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,882,374 (GRCm39) |
L1073P |
|
Het |
| Wipi1 |
C |
T |
11: 109,473,952 (GRCm39) |
|
probably null |
Het |
| Zdhhc8 |
G |
A |
16: 18,042,686 (GRCm39) |
P505S |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,839,899 (GRCm39) |
V84I |
probably benign |
Het |
| Zfp712 |
T |
C |
13: 67,188,791 (GRCm39) |
T579A |
probably benign |
Het |
| Zfp788 |
G |
A |
7: 41,299,638 (GRCm39) |
R758Q |
probably benign |
Het |
|
| Other mutations in Cdc42bpg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Cdc42bpg
|
APN |
19 |
6,362,235 (GRCm39) |
splice site |
probably benign |
|
|
IGL01415:Cdc42bpg
|
APN |
19 |
6,360,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Cdc42bpg
|
APN |
19 |
6,368,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01585:Cdc42bpg
|
APN |
19 |
6,370,462 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01743:Cdc42bpg
|
APN |
19 |
6,359,853 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01930:Cdc42bpg
|
APN |
19 |
6,361,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Cdc42bpg
|
APN |
19 |
6,366,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL02355:Cdc42bpg
|
APN |
19 |
6,360,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02362:Cdc42bpg
|
APN |
19 |
6,360,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02498:Cdc42bpg
|
APN |
19 |
6,372,823 (GRCm39) |
missense |
probably benign |
|
|
IGL03004:Cdc42bpg
|
APN |
19 |
6,361,413 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03037:Cdc42bpg
|
APN |
19 |
6,361,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Cdc42bpg
|
UTSW |
19 |
6,372,582 (GRCm39) |
splice site |
probably null |
|
|
R0304:Cdc42bpg
|
UTSW |
19 |
6,367,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Cdc42bpg
|
UTSW |
19 |
6,361,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Cdc42bpg
|
UTSW |
19 |
6,363,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0742:Cdc42bpg
|
UTSW |
19 |
6,368,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1026:Cdc42bpg
|
UTSW |
19 |
6,367,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Cdc42bpg
|
UTSW |
19 |
6,364,051 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1065:Cdc42bpg
|
UTSW |
19 |
6,372,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Cdc42bpg
|
UTSW |
19 |
6,363,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1854:Cdc42bpg
|
UTSW |
19 |
6,370,837 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1936:Cdc42bpg
|
UTSW |
19 |
6,360,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Cdc42bpg
|
UTSW |
19 |
6,356,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Cdc42bpg
|
UTSW |
19 |
6,370,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Cdc42bpg
|
UTSW |
19 |
6,367,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Cdc42bpg
|
UTSW |
19 |
6,367,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3829:Cdc42bpg
|
UTSW |
19 |
6,367,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4190:Cdc42bpg
|
UTSW |
19 |
6,371,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Cdc42bpg
|
UTSW |
19 |
6,365,296 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4499:Cdc42bpg
|
UTSW |
19 |
6,370,585 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4731:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Cdc42bpg
|
UTSW |
19 |
6,370,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Cdc42bpg
|
UTSW |
19 |
6,361,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4984:Cdc42bpg
|
UTSW |
19 |
6,366,253 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5092:Cdc42bpg
|
UTSW |
19 |
6,363,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Cdc42bpg
|
UTSW |
19 |
6,370,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Cdc42bpg
|
UTSW |
19 |
6,371,835 (GRCm39) |
intron |
probably benign |
|
|
R5208:Cdc42bpg
|
UTSW |
19 |
6,371,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5240:Cdc42bpg
|
UTSW |
19 |
6,365,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cdc42bpg
|
UTSW |
19 |
6,361,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5703:Cdc42bpg
|
UTSW |
19 |
6,372,703 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5876:Cdc42bpg
|
UTSW |
19 |
6,360,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Cdc42bpg
|
UTSW |
19 |
6,367,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Cdc42bpg
|
UTSW |
19 |
6,361,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Cdc42bpg
|
UTSW |
19 |
6,364,518 (GRCm39) |
splice site |
probably null |
|
|
R6493:Cdc42bpg
|
UTSW |
19 |
6,368,485 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6983:Cdc42bpg
|
UTSW |
19 |
6,371,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Cdc42bpg
|
UTSW |
19 |
6,365,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7125:Cdc42bpg
|
UTSW |
19 |
6,372,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Cdc42bpg
|
UTSW |
19 |
6,360,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Cdc42bpg
|
UTSW |
19 |
6,364,534 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7426:Cdc42bpg
|
UTSW |
19 |
6,368,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Cdc42bpg
|
UTSW |
19 |
6,356,814 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7530:Cdc42bpg
|
UTSW |
19 |
6,372,306 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7530:Cdc42bpg
|
UTSW |
19 |
6,372,305 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7739:Cdc42bpg
|
UTSW |
19 |
6,360,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Cdc42bpg
|
UTSW |
19 |
6,363,499 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8186:Cdc42bpg
|
UTSW |
19 |
6,356,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Cdc42bpg
|
UTSW |
19 |
6,363,477 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8870:Cdc42bpg
|
UTSW |
19 |
6,364,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9014:Cdc42bpg
|
UTSW |
19 |
6,372,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9263:Cdc42bpg
|
UTSW |
19 |
6,372,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Cdc42bpg
|
UTSW |
19 |
6,364,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Cdc42bpg
|
UTSW |
19 |
6,363,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Cdc42bpg
|
UTSW |
19 |
6,370,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Cdc42bpg
|
UTSW |
19 |
6,370,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cdc42bpg
|
UTSW |
19 |
6,364,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdc42bpg
|
UTSW |
19 |
6,364,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Cdc42bpg
|
UTSW |
19 |
6,359,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTCTCAACAACAATGGC -3'
(R):5'- TGCAATCACACAATGTAGGGGTC -3'
Sequencing Primer
(F):5'- TCTCAACAACAATGGCATGGTAAG -3'
(R):5'- ACACAGTCAGACCTCGTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation