Incidental Mutation 'R7739:Cdc42bpg'
| ID |
596462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
045795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R7739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6360845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 201
(I201N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: I201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: I201N
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,885,875 (GRCm39) |
A336S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,865,417 (GRCm39) |
S347P |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,352,983 (GRCm39) |
T326A |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,419 (GRCm39) |
I355T |
|
Het |
| Atp2a2 |
G |
A |
5: 122,607,768 (GRCm39) |
T247I |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,837,227 (GRCm39) |
D555E |
probably benign |
Het |
| Aurkb |
G |
T |
11: 68,939,058 (GRCm39) |
G94* |
probably null |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,986 (GRCm39) |
H37L |
unknown |
Het |
| Cabin1 |
A |
G |
10: 75,494,492 (GRCm39) |
L1629P |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,095,578 (GRCm39) |
T1840I |
possibly damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,916,186 (GRCm39) |
D314A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,761,653 (GRCm39) |
L2246P |
probably damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,484,511 (GRCm39) |
M657L |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,453 (GRCm39) |
V87A |
probably damaging |
Het |
| Drd5 |
G |
T |
5: 38,477,421 (GRCm39) |
W138L |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,326,012 (GRCm39) |
D792N |
unknown |
Het |
| Fat2 |
C |
A |
11: 55,171,957 (GRCm39) |
E2919* |
probably null |
Het |
| Fgf20 |
A |
G |
8: 40,732,937 (GRCm39) |
V167A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,266 (GRCm39) |
V934A |
possibly damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,444,198 (GRCm39) |
A730D |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,325,483 (GRCm39) |
V335A |
probably benign |
Het |
| Havcr2 |
T |
G |
11: 46,347,384 (GRCm39) |
N120K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,038 (GRCm39) |
F4895L |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,847 (GRCm39) |
Y475H |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,933,620 (GRCm39) |
D85G |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,500,975 (GRCm39) |
S657G |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,584,816 (GRCm39) |
Y382N |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mtf1 |
T |
A |
4: 124,718,081 (GRCm39) |
C260S |
probably damaging |
Het |
| Naa35 |
A |
G |
13: 59,747,598 (GRCm39) |
D110G |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,501 (GRCm39) |
T808S |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,909 (GRCm39) |
W56R |
probably damaging |
Het |
| Pax9 |
A |
T |
12: 56,746,884 (GRCm39) |
H240L |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,993,529 (GRCm39) |
T413A |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,846,205 (GRCm39) |
V127A |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,381,324 (GRCm39) |
E170G |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,931,819 (GRCm39) |
I966T |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,433 (GRCm39) |
|
probably null |
Het |
| Rab29 |
T |
A |
1: 131,799,923 (GRCm39) |
M166K |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,503,717 (GRCm39) |
E135G |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,463 (GRCm39) |
S365T |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,687 (GRCm39) |
E387K |
|
Het |
| Sh3d19 |
T |
C |
3: 86,031,038 (GRCm39) |
V734A |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,689 (GRCm39) |
T448S |
possibly damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,828 (GRCm39) |
I54K |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,799,494 (GRCm39) |
R227* |
probably null |
Het |
| Tcerg1 |
A |
G |
18: 42,657,039 (GRCm39) |
T174A |
unknown |
Het |
| Tenm2 |
T |
C |
11: 35,960,388 (GRCm39) |
S980G |
possibly damaging |
Het |
| Trim30a |
T |
C |
7: 104,079,386 (GRCm39) |
I156M |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,396 (GRCm39) |
D454G |
possibly damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,579 (GRCm39) |
*863K |
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn1r33 |
C |
T |
6: 66,589,357 (GRCm39) |
D66N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,043 (GRCm39) |
I268N |
probably damaging |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,080 (GRCm39) |
E582D |
probably benign |
Het |
| Vtcn1 |
T |
C |
3: 100,791,211 (GRCm39) |
F83S |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,332,811 (GRCm39) |
D684E |
|
Het |
| Wipi1 |
A |
G |
11: 109,470,535 (GRCm39) |
S295P |
probably damaging |
Het |
| Zfp27 |
A |
T |
7: 29,593,699 (GRCm39) |
H755Q |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,195,533 (GRCm39) |
F307L |
possibly damaging |
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 |
|
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 |
|
R9256:Cdc42bpg
|
UTSW |
19 |
6,361,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCATTGTGAGCATGTACACAC -3'
(R):5'- TGCGACTGATGAATCCACCTG -3'
Sequencing Primer
(F):5'- CATTGTGAGCATGTACACACACAGG -3'
(R):5'- CGACTGATGAATCCACCTGTGTTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation