Incidental Mutation 'R6024:Cdc42bpg'
| ID |
479115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
044196-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R6024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6367526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 995
(L995Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: L995Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: L995Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141854
|
| Meta Mutation Damage Score |
0.2013 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,624,624 (GRCm39) |
F3782L |
probably benign |
Het |
| Akr1d1 |
T |
C |
6: 37,535,417 (GRCm39) |
I267T |
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,953,030 (GRCm39) |
K318N |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,068 (GRCm39) |
S940P |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,587 (GRCm39) |
I104T |
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,053 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cenatac |
T |
C |
9: 44,329,249 (GRCm39) |
T13A |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,753,152 (GRCm39) |
K210E |
possibly damaging |
Het |
| Cog4 |
C |
T |
8: 111,608,112 (GRCm39) |
T735I |
probably damaging |
Het |
| Creb3l4 |
G |
A |
3: 90,146,006 (GRCm39) |
S206L |
probably damaging |
Het |
| Csf3r |
C |
A |
4: 125,931,310 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
T |
12: 117,994,007 (GRCm39) |
S2346R |
probably benign |
Het |
| Dnai2 |
A |
T |
11: 114,643,734 (GRCm39) |
I467F |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,276,876 (GRCm39) |
M523K |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,802,264 (GRCm39) |
D407G |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,908 (GRCm39) |
I991T |
probably benign |
Het |
| Gcc1 |
T |
C |
6: 28,419,299 (GRCm39) |
T345A |
probably benign |
Het |
| Gm1527 |
C |
T |
3: 28,974,752 (GRCm39) |
H522Y |
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,317,696 (GRCm39) |
Y240F |
probably benign |
Het |
| Hmgcl |
T |
C |
4: 135,682,926 (GRCm39) |
V126A |
probably benign |
Het |
| Ifit1bl2 |
G |
T |
19: 34,597,438 (GRCm39) |
S59R |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,617,577 (GRCm39) |
N32S |
probably benign |
Het |
| Lcor |
C |
A |
19: 41,572,396 (GRCm39) |
P384T |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,414,160 (GRCm39) |
S779P |
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,533,280 (GRCm39) |
L209F |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,915 (GRCm39) |
N97S |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,350 (GRCm39) |
V336E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,557,967 (GRCm39) |
S2775R |
unknown |
Het |
| Muc6 |
T |
A |
7: 141,227,841 (GRCm39) |
T1316S |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,095,567 (GRCm39) |
N65I |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,762,671 (GRCm39) |
N801D |
possibly damaging |
Het |
| Nkain2 |
A |
T |
10: 31,827,281 (GRCm39) |
M103K |
probably damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,025,961 (GRCm39) |
Y259F |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,897,526 (GRCm39) |
M877V |
possibly damaging |
Het |
| Nxf1 |
C |
T |
19: 8,745,108 (GRCm39) |
L453F |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,255,871 (GRCm39) |
S790G |
possibly damaging |
Het |
| Phf3 |
T |
C |
1: 30,902,307 (GRCm39) |
D2G |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,838,898 (GRCm39) |
|
probably benign |
Het |
| Ptpn3 |
C |
A |
4: 57,248,653 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,243,841 (GRCm39) |
T625A |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,295,349 (GRCm39) |
F239I |
probably damaging |
Het |
| Sesn1 |
A |
T |
10: 41,772,196 (GRCm39) |
I242F |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,733,768 (GRCm39) |
T105I |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,147,543 (GRCm39) |
F350S |
possibly damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,014,294 (GRCm39) |
Y320C |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,669,416 (GRCm39) |
S159P |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,498 (GRCm39) |
S1981P |
probably damaging |
Het |
| Tmem200c |
A |
C |
17: 69,148,722 (GRCm39) |
D435A |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,966,066 (GRCm39) |
V1125A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,644,487 (GRCm39) |
V4762A |
possibly damaging |
Het |
| Unc5d |
A |
G |
8: 29,365,539 (GRCm39) |
S149P |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,040,203 (GRCm39) |
N1561I |
probably damaging |
Het |
| Wdr4 |
A |
T |
17: 31,720,272 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
T |
G |
3: 75,209,133 (GRCm39) |
E612D |
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 |
|
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 |
|
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'- TCACTCAGCTTGTGCGTCAC -3'
(R):5'- CTTGGATTGGGCATGAATGAC -3'
Sequencing Primer
(F):5'- CCTATGAGGGCTTCCTGTCG -3'
(R):5'- CATGAATGACATCTGGGGCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation