Incidental Mutation 'R6807:Mapkbp1'
ID |
533574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapkbp1
|
Ensembl Gene |
ENSMUSG00000033902 |
Gene Name |
mitogen-activated protein kinase binding protein 1 |
Synonyms |
2810483F24Rik, Jnkbp1 |
MMRRC Submission |
044920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 119851640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 861
(Q861K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066058]
[ENSMUST00000229024]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066058
AA Change: Q855K
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000068516 Gene: ENSMUSG00000033902 AA Change: Q855K
Domain | Start | End | E-Value | Type |
WD40
|
80 |
121 |
8.75e-5 |
SMART |
WD40
|
124 |
165 |
3.64e-2 |
SMART |
WD40
|
168 |
205 |
4.62e-1 |
SMART |
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
WD40
|
264 |
301 |
2.65e1 |
SMART |
WD40
|
332 |
367 |
1.99e0 |
SMART |
WD40
|
374 |
422 |
1.29e-2 |
SMART |
WD40
|
463 |
502 |
3.9e-2 |
SMART |
WD40
|
505 |
547 |
2.77e-1 |
SMART |
WD40
|
551 |
592 |
2.67e-1 |
SMART |
WD40
|
599 |
639 |
2.21e1 |
SMART |
WD40
|
642 |
684 |
5.75e-1 |
SMART |
WD40
|
687 |
726 |
6.04e-8 |
SMART |
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
low complexity region
|
779 |
795 |
N/A |
INTRINSIC |
low complexity region
|
1028 |
1054 |
N/A |
INTRINSIC |
coiled coil region
|
1400 |
1427 |
N/A |
INTRINSIC |
low complexity region
|
1460 |
1477 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229024
AA Change: Q861K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.1931 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.9%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,282,356 (GRCm39) |
T2158A |
probably benign |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Apol7a |
T |
C |
15: 77,277,520 (GRCm39) |
|
probably null |
Het |
Bicdl1 |
C |
T |
5: 115,810,202 (GRCm39) |
|
probably null |
Het |
Bop1 |
T |
A |
15: 76,339,183 (GRCm39) |
Q362L |
probably damaging |
Het |
C4b |
T |
C |
17: 34,949,930 (GRCm39) |
D1418G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,214,650 (GRCm39) |
V1455A |
possibly damaging |
Het |
Cecr2 |
T |
G |
6: 120,711,503 (GRCm39) |
|
probably null |
Het |
Cer1 |
T |
C |
4: 82,801,052 (GRCm39) |
S204G |
probably benign |
Het |
Cers3 |
G |
C |
7: 66,413,968 (GRCm39) |
W15C |
probably damaging |
Het |
Csn1s2a |
A |
T |
5: 87,929,731 (GRCm39) |
H110L |
probably benign |
Het |
Dnah10 |
T |
G |
5: 124,867,064 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,041,718 (GRCm39) |
N3315S |
probably benign |
Het |
Dynlrb2 |
T |
C |
8: 117,234,299 (GRCm39) |
M21T |
probably benign |
Het |
Emilin1 |
T |
A |
5: 31,072,871 (GRCm39) |
F103I |
probably benign |
Het |
Esrra |
T |
A |
19: 6,889,142 (GRCm39) |
M416L |
probably benign |
Het |
Etaa1 |
C |
A |
11: 17,902,680 (GRCm39) |
V86L |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,314,211 (GRCm39) |
S324P |
probably damaging |
Het |
Fam90a1a |
T |
C |
8: 22,453,368 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,036,589 (GRCm39) |
Q3414K |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,838,164 (GRCm39) |
R162H |
probably damaging |
Het |
Gpr21 |
T |
A |
2: 37,407,974 (GRCm39) |
Y173* |
probably null |
Het |
Gprc6a |
G |
A |
10: 51,502,841 (GRCm39) |
Q341* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,814,670 (GRCm39) |
S2674R |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,186,995 (GRCm39) |
H9Q |
probably null |
Het |
Hps1 |
A |
G |
19: 42,759,217 (GRCm39) |
V125A |
possibly damaging |
Het |
Iba57 |
G |
T |
11: 59,049,440 (GRCm39) |
P243H |
probably damaging |
Het |
Incenp |
G |
T |
19: 9,855,120 (GRCm39) |
A597E |
unknown |
Het |
Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
Klb |
G |
A |
5: 65,536,877 (GRCm39) |
V736M |
probably damaging |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Krt73 |
T |
G |
15: 101,704,842 (GRCm39) |
E348A |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,674,577 (GRCm39) |
D134E |
probably benign |
Het |
Limd2 |
T |
C |
11: 106,049,771 (GRCm39) |
T73A |
probably benign |
Het |
Lrpprc |
A |
G |
17: 85,056,531 (GRCm39) |
S787P |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,268,208 (GRCm39) |
M6735T |
probably damaging |
Het |
Mc4r |
T |
A |
18: 66,992,927 (GRCm39) |
N62I |
probably damaging |
Het |
Metap1d |
G |
A |
2: 71,341,858 (GRCm39) |
V151I |
probably damaging |
Het |
Nek2 |
T |
C |
1: 191,554,729 (GRCm39) |
V147A |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,108,530 (GRCm39) |
W324R |
probably damaging |
Het |
Nol4l |
G |
T |
2: 153,325,746 (GRCm39) |
S113* |
probably null |
Het |
Oc90 |
T |
A |
15: 65,761,463 (GRCm39) |
D185V |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,172 (GRCm39) |
F60S |
probably damaging |
Het |
Or2v1 |
G |
A |
11: 49,025,805 (GRCm39) |
R262K |
probably damaging |
Het |
Or4a71 |
G |
A |
2: 89,357,932 (GRCm39) |
T274M |
probably damaging |
Het |
Or5m13 |
A |
T |
2: 85,748,382 (GRCm39) |
T38S |
possibly damaging |
Het |
Or5p51 |
T |
A |
7: 107,444,797 (GRCm39) |
T48S |
possibly damaging |
Het |
Or8g50 |
A |
T |
9: 39,648,914 (GRCm39) |
K268* |
probably null |
Het |
Pcdha8 |
A |
G |
18: 37,127,401 (GRCm39) |
T628A |
probably damaging |
Het |
Pcsk5 |
A |
T |
19: 17,549,986 (GRCm39) |
|
probably null |
Het |
Pdgfrb |
T |
C |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
Pgm3 |
A |
T |
9: 86,438,555 (GRCm39) |
|
probably null |
Het |
Pin1rt1 |
T |
A |
2: 104,545,063 (GRCm39) |
Y23F |
probably benign |
Het |
Poli |
T |
A |
18: 70,663,222 (GRCm39) |
|
probably null |
Het |
Pom121 |
C |
A |
5: 135,409,978 (GRCm39) |
|
probably benign |
Het |
Ppp2r5c |
A |
G |
12: 110,535,456 (GRCm39) |
D407G |
possibly damaging |
Het |
Pramel28 |
A |
G |
4: 143,691,581 (GRCm39) |
S381P |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,180,515 (GRCm39) |
D116G |
probably null |
Het |
Serpina3b |
A |
T |
12: 104,099,251 (GRCm39) |
E255D |
probably benign |
Het |
Sft2d1rt |
T |
C |
11: 45,942,859 (GRCm39) |
Q88R |
probably damaging |
Het |
Slc46a1 |
A |
G |
11: 78,357,790 (GRCm39) |
H281R |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,642,012 (GRCm39) |
I294T |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,664,631 (GRCm39) |
|
probably null |
Het |
Stag1 |
C |
T |
9: 100,826,903 (GRCm39) |
R957C |
probably damaging |
Het |
Stk35 |
G |
A |
2: 129,643,573 (GRCm39) |
E186K |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,544,478 (GRCm39) |
V2165I |
probably damaging |
Het |
Tmem53 |
T |
C |
4: 117,125,528 (GRCm39) |
S207P |
probably benign |
Het |
Ugt2a3 |
A |
G |
5: 87,484,617 (GRCm39) |
F136L |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,957,577 (GRCm39) |
K795E |
probably damaging |
Het |
Zbtb11 |
C |
A |
16: 55,810,865 (GRCm39) |
T341K |
probably benign |
Het |
|
Other mutations in Mapkbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Mapkbp1
|
APN |
2 |
119,852,339 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01309:Mapkbp1
|
APN |
2 |
119,849,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01728:Mapkbp1
|
APN |
2 |
119,854,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01808:Mapkbp1
|
APN |
2 |
119,853,650 (GRCm39) |
splice site |
probably null |
|
IGL02185:Mapkbp1
|
APN |
2 |
119,845,144 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02421:Mapkbp1
|
APN |
2 |
119,850,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02691:Mapkbp1
|
APN |
2 |
119,803,655 (GRCm39) |
splice site |
probably benign |
|
IGL03146:Mapkbp1
|
APN |
2 |
119,828,955 (GRCm39) |
splice site |
probably benign |
|
IGL03387:Mapkbp1
|
APN |
2 |
119,828,979 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03054:Mapkbp1
|
UTSW |
2 |
119,845,881 (GRCm39) |
missense |
probably damaging |
0.97 |
R0118:Mapkbp1
|
UTSW |
2 |
119,855,696 (GRCm39) |
missense |
probably benign |
0.00 |
R0393:Mapkbp1
|
UTSW |
2 |
119,843,384 (GRCm39) |
splice site |
probably null |
|
R0463:Mapkbp1
|
UTSW |
2 |
119,853,632 (GRCm39) |
missense |
probably benign |
0.01 |
R0788:Mapkbp1
|
UTSW |
2 |
119,854,482 (GRCm39) |
missense |
probably benign |
0.02 |
R0928:Mapkbp1
|
UTSW |
2 |
119,845,849 (GRCm39) |
missense |
probably benign |
0.00 |
R1104:Mapkbp1
|
UTSW |
2 |
119,841,554 (GRCm39) |
splice site |
probably benign |
|
R1162:Mapkbp1
|
UTSW |
2 |
119,855,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1219:Mapkbp1
|
UTSW |
2 |
119,849,831 (GRCm39) |
nonsense |
probably null |
|
R1299:Mapkbp1
|
UTSW |
2 |
119,845,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1300:Mapkbp1
|
UTSW |
2 |
119,844,136 (GRCm39) |
missense |
probably benign |
0.25 |
R1342:Mapkbp1
|
UTSW |
2 |
119,829,015 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1456:Mapkbp1
|
UTSW |
2 |
119,803,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Mapkbp1
|
UTSW |
2 |
119,851,742 (GRCm39) |
missense |
probably benign |
|
R1464:Mapkbp1
|
UTSW |
2 |
119,851,742 (GRCm39) |
missense |
probably benign |
|
R1470:Mapkbp1
|
UTSW |
2 |
119,848,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Mapkbp1
|
UTSW |
2 |
119,848,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Mapkbp1
|
UTSW |
2 |
119,849,029 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2008:Mapkbp1
|
UTSW |
2 |
119,843,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R2083:Mapkbp1
|
UTSW |
2 |
119,845,963 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2371:Mapkbp1
|
UTSW |
2 |
119,841,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Mapkbp1
|
UTSW |
2 |
119,855,071 (GRCm39) |
missense |
probably benign |
0.00 |
R3976:Mapkbp1
|
UTSW |
2 |
119,852,339 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4009:Mapkbp1
|
UTSW |
2 |
119,854,086 (GRCm39) |
missense |
probably benign |
0.00 |
R4183:Mapkbp1
|
UTSW |
2 |
119,848,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R4246:Mapkbp1
|
UTSW |
2 |
119,843,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R4503:Mapkbp1
|
UTSW |
2 |
119,846,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R4513:Mapkbp1
|
UTSW |
2 |
119,854,174 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4517:Mapkbp1
|
UTSW |
2 |
119,855,545 (GRCm39) |
intron |
probably benign |
|
R4742:Mapkbp1
|
UTSW |
2 |
119,847,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R5049:Mapkbp1
|
UTSW |
2 |
119,845,982 (GRCm39) |
splice site |
probably benign |
|
R5079:Mapkbp1
|
UTSW |
2 |
119,844,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R5137:Mapkbp1
|
UTSW |
2 |
119,852,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Mapkbp1
|
UTSW |
2 |
119,847,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5530:Mapkbp1
|
UTSW |
2 |
119,845,836 (GRCm39) |
missense |
probably benign |
|
R5546:Mapkbp1
|
UTSW |
2 |
119,849,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Mapkbp1
|
UTSW |
2 |
119,803,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R5696:Mapkbp1
|
UTSW |
2 |
119,852,201 (GRCm39) |
splice site |
probably null |
|
R5891:Mapkbp1
|
UTSW |
2 |
119,854,413 (GRCm39) |
nonsense |
probably null |
|
R6263:Mapkbp1
|
UTSW |
2 |
119,853,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R6890:Mapkbp1
|
UTSW |
2 |
119,846,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Mapkbp1
|
UTSW |
2 |
119,855,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7467:Mapkbp1
|
UTSW |
2 |
119,852,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Mapkbp1
|
UTSW |
2 |
119,849,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7564:Mapkbp1
|
UTSW |
2 |
119,844,232 (GRCm39) |
missense |
probably benign |
0.09 |
R7801:Mapkbp1
|
UTSW |
2 |
119,842,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R7886:Mapkbp1
|
UTSW |
2 |
119,843,128 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8095:Mapkbp1
|
UTSW |
2 |
119,848,131 (GRCm39) |
missense |
probably benign |
0.11 |
R8421:Mapkbp1
|
UTSW |
2 |
119,849,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R8548:Mapkbp1
|
UTSW |
2 |
119,854,572 (GRCm39) |
missense |
probably benign |
0.33 |
R8856:Mapkbp1
|
UTSW |
2 |
119,845,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Mapkbp1
|
UTSW |
2 |
119,850,050 (GRCm39) |
missense |
probably benign |
|
R9007:Mapkbp1
|
UTSW |
2 |
119,850,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R9251:Mapkbp1
|
UTSW |
2 |
119,853,671 (GRCm39) |
missense |
probably benign |
0.00 |
R9255:Mapkbp1
|
UTSW |
2 |
119,843,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Mapkbp1
|
UTSW |
2 |
119,845,252 (GRCm39) |
missense |
probably benign |
0.02 |
R9587:Mapkbp1
|
UTSW |
2 |
119,847,277 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9685:Mapkbp1
|
UTSW |
2 |
119,851,664 (GRCm39) |
missense |
probably benign |
0.35 |
R9803:Mapkbp1
|
UTSW |
2 |
119,841,256 (GRCm39) |
missense |
probably benign |
0.11 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGCTAACCTTGCCTGCAG -3'
(R):5'- GCTCACCTGACTGACACATG -3'
Sequencing Primer
(F):5'- TGGGCTAGTCACAGAAATCCACTG -3'
(R):5'- TGACTGACACATGACAGCTCAGG -3'
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Posted On |
2018-09-12 |