Incidental Mutation 'R5183:Cdc42bpg'
ID |
470574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpg
|
Ensembl Gene |
ENSMUSG00000024769 |
Gene Name |
CDC42 binding protein kinase gamma |
Synonyms |
MRCKgamma |
MMRRC Submission |
042762-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.348)
|
Stock # |
R5183 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 6371835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
AlphaFold |
Q80UW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025681
|
SMART Domains |
Protein: ENSMUSP00000025681 Gene: ENSMUSG00000024769
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,171 (GRCm39) |
D8E |
probably damaging |
Het |
Abca3 |
T |
G |
17: 24,593,427 (GRCm39) |
S275A |
probably benign |
Het |
Adk |
A |
G |
14: 21,290,599 (GRCm39) |
N155S |
probably damaging |
Het |
Aqp11 |
T |
C |
7: 97,386,963 (GRCm39) |
T78A |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,241,556 (GRCm39) |
V1455A |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Cdan1 |
T |
A |
2: 120,560,061 (GRCm39) |
I368F |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,714,759 (GRCm39) |
D2013G |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,408,558 (GRCm39) |
V1332A |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,299,832 (GRCm39) |
S1172P |
probably damaging |
Het |
Commd2 |
A |
T |
3: 57,554,235 (GRCm39) |
D155E |
probably benign |
Het |
Coq7 |
T |
A |
7: 118,127,490 (GRCm39) |
|
probably benign |
Het |
Dnase2a |
T |
C |
8: 85,636,207 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Dock6 |
C |
T |
9: 21,752,899 (GRCm39) |
V305I |
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,699,708 (GRCm39) |
Q2288R |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,871,609 (GRCm39) |
N3594I |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,660,414 (GRCm39) |
M284T |
probably damaging |
Het |
Gatm |
A |
T |
2: 122,425,984 (GRCm39) |
F422L |
probably benign |
Het |
Glrp1 |
A |
T |
1: 88,437,574 (GRCm39) |
I12N |
unknown |
Het |
Gm5455 |
T |
A |
13: 110,441,962 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
C |
T |
19: 55,071,659 (GRCm39) |
E361K |
probably damaging |
Het |
Gps2 |
A |
G |
11: 69,806,023 (GRCm39) |
T126A |
probably benign |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsg1 |
T |
A |
6: 135,218,368 (GRCm39) |
Q176L |
probably damaging |
Het |
Htra1 |
C |
T |
7: 130,585,446 (GRCm39) |
A412V |
possibly damaging |
Het |
Icosl |
C |
T |
10: 77,905,319 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,372,813 (GRCm39) |
T1509A |
probably damaging |
Het |
Irag2 |
A |
G |
6: 145,083,946 (GRCm39) |
E37G |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,395 (GRCm39) |
|
probably null |
Het |
Kdm5a |
C |
A |
6: 120,406,977 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,101,125 (GRCm39) |
L1017S |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,433,947 (GRCm39) |
Y898C |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,822,413 (GRCm39) |
S804R |
probably damaging |
Het |
Miip |
A |
T |
4: 147,947,526 (GRCm39) |
F211L |
probably damaging |
Het |
Moxd1 |
T |
G |
10: 24,155,445 (GRCm39) |
|
probably null |
Het |
Moxd1 |
T |
G |
10: 24,163,034 (GRCm39) |
Y499D |
probably damaging |
Het |
Mrpl45 |
T |
C |
11: 97,207,577 (GRCm39) |
I24T |
probably benign |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Mthfr |
T |
A |
4: 148,135,817 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
A |
7: 141,404,547 (GRCm39) |
D827E |
unknown |
Het |
Myo1g |
G |
C |
11: 6,458,243 (GRCm39) |
L866V |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,468,170 (GRCm39) |
M475L |
probably benign |
Het |
Ncoa2 |
A |
C |
1: 13,244,590 (GRCm39) |
L703V |
probably damaging |
Het |
Ncoa4-ps |
A |
C |
12: 119,225,023 (GRCm39) |
|
noncoding transcript |
Het |
Nme6 |
T |
A |
9: 109,670,557 (GRCm39) |
Y69* |
probably null |
Het |
Nwd1 |
T |
A |
8: 73,397,714 (GRCm39) |
M651K |
probably benign |
Het |
Or4k15c |
A |
C |
14: 50,322,003 (GRCm39) |
I45S |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,513,977 (GRCm39) |
S298R |
possibly damaging |
Het |
Oscp1 |
A |
T |
4: 125,981,522 (GRCm39) |
E328V |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,153,838 (GRCm39) |
V1003A |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,559,507 (GRCm39) |
V1200A |
possibly damaging |
Het |
Prl |
T |
C |
13: 27,241,579 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
C |
10: 28,351,232 (GRCm39) |
V575A |
probably benign |
Het |
Rflna |
A |
T |
5: 125,088,469 (GRCm39) |
S139C |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,539,038 (GRCm39) |
F27S |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,819,460 (GRCm39) |
S347P |
probably benign |
Het |
Shmt1 |
A |
G |
11: 60,688,308 (GRCm39) |
|
probably benign |
Het |
Slc27a3 |
A |
G |
3: 90,296,477 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,585,957 (GRCm39) |
V425A |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,265 (GRCm39) |
V518A |
possibly damaging |
Het |
Slco1a4 |
A |
T |
6: 141,785,357 (GRCm39) |
Y78N |
probably damaging |
Het |
Stt3b |
A |
T |
9: 115,095,211 (GRCm39) |
H273Q |
probably damaging |
Het |
Tle6 |
T |
A |
10: 81,428,635 (GRCm39) |
N431I |
probably damaging |
Het |
Trim34b |
C |
A |
7: 103,979,118 (GRCm39) |
Q122K |
possibly damaging |
Het |
Trio |
C |
A |
15: 27,902,686 (GRCm39) |
R258S |
probably benign |
Het |
Ttc7 |
A |
T |
17: 87,600,306 (GRCm39) |
D23V |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,810,525 (GRCm39) |
M1K |
probably null |
Het |
Ufsp2 |
T |
C |
8: 46,447,126 (GRCm39) |
V391A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,815,334 (GRCm39) |
L990S |
probably damaging |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp618 |
G |
A |
4: 63,017,519 (GRCm39) |
M234I |
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 |
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 |
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'- ACACTACAGGCTGTTTCCCAC -3'
(R):5'- TCTCTATGGAAAGTCAGGGAGC -3'
Sequencing Primer
(F):5'- AGGCTGTTTCCCACCTACAGG -3'
(R):5'- AGGTGCTCACATGTCCCAG -3'
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Posted On |
2017-03-14 |