Incidental Mutation 'R5634:Mapkbp1'
ID |
440017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapkbp1
|
Ensembl Gene |
ENSMUSG00000033902 |
Gene Name |
mitogen-activated protein kinase binding protein 1 |
Synonyms |
2810483F24Rik, Jnkbp1 |
MMRRC Submission |
043285-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119803576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 15
(N15S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066058]
[ENSMUST00000079934]
[ENSMUST00000110773]
[ENSMUST00000110774]
[ENSMUST00000229024]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066058
AA Change: N15S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068516 Gene: ENSMUSG00000033902 AA Change: N15S
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 benign
Transcript: ENSMUST00000079934
|
SMART Domains |
Protein: ENSMUSP00000078853 Gene: ENSMUSG00000033943
Domain | Start | End | E-Value | Type |
Blast:TBOX
|
6 |
73 |
5e-27 |
BLAST |
TBOX
|
74 |
265 |
2.34e-100 |
SMART |
low complexity region
|
969 |
978 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1031 |
N/A |
INTRINSIC |
low complexity region
|
1112 |
1138 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1300 |
1314 |
N/A |
INTRINSIC |
low complexity region
|
1626 |
1648 |
N/A |
INTRINSIC |
low complexity region
|
1663 |
1680 |
N/A |
INTRINSIC |
low complexity region
|
1807 |
1822 |
N/A |
INTRINSIC |
low complexity region
|
2013 |
2027 |
N/A |
INTRINSIC |
low complexity region
|
2071 |
2089 |
N/A |
INTRINSIC |
HLH
|
2198 |
2249 |
8.27e-7 |
SMART |
low complexity region
|
2578 |
2599 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110773
|
SMART Domains |
Protein: ENSMUSP00000106400 Gene: ENSMUSG00000033943
Domain | Start | End | E-Value | Type |
Blast:TBOX
|
6 |
73 |
5e-27 |
BLAST |
TBOX
|
74 |
265 |
2.34e-100 |
SMART |
low complexity region
|
890 |
899 |
N/A |
INTRINSIC |
low complexity region
|
938 |
952 |
N/A |
INTRINSIC |
low complexity region
|
1033 |
1059 |
N/A |
INTRINSIC |
low complexity region
|
1169 |
1190 |
N/A |
INTRINSIC |
low complexity region
|
1222 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1485 |
1502 |
N/A |
INTRINSIC |
low complexity region
|
1555 |
1570 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1637 |
N/A |
INTRINSIC |
low complexity region
|
1717 |
1739 |
N/A |
INTRINSIC |
low complexity region
|
1754 |
1771 |
N/A |
INTRINSIC |
low complexity region
|
1898 |
1913 |
N/A |
INTRINSIC |
low complexity region
|
2104 |
2118 |
N/A |
INTRINSIC |
low complexity region
|
2162 |
2180 |
N/A |
INTRINSIC |
HLH
|
2289 |
2340 |
8.27e-7 |
SMART |
low complexity region
|
2669 |
2690 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110774
|
SMART Domains |
Protein: ENSMUSP00000106401 Gene: ENSMUSG00000033943
Domain | Start | End | E-Value | Type |
Blast:TBOX
|
6 |
73 |
7e-27 |
BLAST |
TBOX
|
74 |
265 |
2.34e-100 |
SMART |
low complexity region
|
969 |
978 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1031 |
N/A |
INTRINSIC |
Pfam:DUF4801
|
1037 |
1085 |
1e-19 |
PFAM |
low complexity region
|
1112 |
1138 |
N/A |
INTRINSIC |
low complexity region
|
1248 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1301 |
1315 |
N/A |
INTRINSIC |
low complexity region
|
1564 |
1581 |
N/A |
INTRINSIC |
low complexity region
|
1634 |
1649 |
N/A |
INTRINSIC |
low complexity region
|
1681 |
1716 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1857 |
N/A |
INTRINSIC |
low complexity region
|
1872 |
1889 |
N/A |
INTRINSIC |
low complexity region
|
2016 |
2031 |
N/A |
INTRINSIC |
low complexity region
|
2222 |
2236 |
N/A |
INTRINSIC |
low complexity region
|
2280 |
2298 |
N/A |
INTRINSIC |
HLH
|
2407 |
2458 |
8.27e-7 |
SMART |
low complexity region
|
2787 |
2808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229024
AA Change: N15S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,494,921 (GRCm39) |
|
probably benign |
Het |
Aen |
A |
T |
7: 78,552,255 (GRCm39) |
T34S |
probably benign |
Het |
Apoh |
T |
A |
11: 108,302,875 (GRCm39) |
V280E |
probably damaging |
Het |
Ccdc87 |
A |
G |
19: 4,890,693 (GRCm39) |
H395R |
probably benign |
Het |
Ccrl2 |
T |
A |
9: 110,885,055 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
C |
1: 104,902,800 (GRCm39) |
F497S |
probably damaging |
Het |
Cfap54 |
C |
A |
10: 92,740,125 (GRCm39) |
|
probably benign |
Het |
Cimap1b |
T |
A |
15: 89,262,410 (GRCm39) |
T70S |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,749 (GRCm39) |
|
probably null |
Het |
Col14a1 |
T |
A |
15: 55,381,694 (GRCm39) |
Y1756N |
probably damaging |
Het |
Cyp2c54 |
G |
A |
19: 40,060,858 (GRCm39) |
A95V |
possibly damaging |
Het |
Dcdc5 |
A |
G |
2: 106,234,325 (GRCm39) |
|
noncoding transcript |
Het |
Dnah17 |
T |
C |
11: 117,943,752 (GRCm39) |
|
probably null |
Het |
Eepd1 |
A |
T |
9: 25,514,849 (GRCm39) |
N552I |
probably benign |
Het |
Eif2ak4 |
A |
T |
2: 118,292,792 (GRCm39) |
R1218W |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,505,871 (GRCm39) |
I467F |
possibly damaging |
Het |
Ffar4 |
GCTTCTT |
GCTT |
19: 38,102,373 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gpha2 |
A |
G |
19: 6,276,890 (GRCm39) |
T25A |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,792,843 (GRCm39) |
I297F |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,856,531 (GRCm39) |
G3924R |
probably damaging |
Het |
Hmcn2 |
G |
T |
2: 31,223,893 (GRCm39) |
D97Y |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,041,828 (GRCm39) |
G1131D |
probably benign |
Het |
Il18rap |
T |
C |
1: 40,578,536 (GRCm39) |
|
probably benign |
Het |
Ino80d |
C |
A |
1: 63,101,442 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,477,707 (GRCm39) |
T454A |
probably damaging |
Het |
Krt84 |
C |
A |
15: 101,437,084 (GRCm39) |
V360L |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,432,840 (GRCm39) |
N1267S |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,698,915 (GRCm39) |
F22S |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,227,040 (GRCm39) |
C548* |
probably null |
Het |
Nacad |
T |
C |
11: 6,552,387 (GRCm39) |
E268G |
possibly damaging |
Het |
Nfxl1 |
A |
G |
5: 72,686,833 (GRCm39) |
C527R |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,601,570 (GRCm39) |
C412S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4g16 |
A |
G |
2: 111,137,437 (GRCm39) |
I296V |
probably benign |
Het |
Per2 |
C |
T |
1: 91,372,429 (GRCm39) |
C215Y |
probably benign |
Het |
Pias1 |
T |
C |
9: 62,803,255 (GRCm39) |
T343A |
probably benign |
Het |
Pja2 |
C |
T |
17: 64,599,862 (GRCm39) |
V541M |
probably damaging |
Het |
Plxna4 |
G |
A |
6: 32,214,658 (GRCm39) |
Q608* |
probably null |
Het |
Ppil4 |
T |
A |
10: 7,690,542 (GRCm39) |
D398E |
probably benign |
Het |
Ppp4r3a |
T |
A |
12: 101,009,780 (GRCm39) |
D8V |
probably damaging |
Het |
Pstk |
A |
C |
7: 130,973,072 (GRCm39) |
D57A |
probably damaging |
Het |
Ptprd |
T |
C |
4: 75,990,255 (GRCm39) |
I53V |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,728,924 (GRCm39) |
F159L |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,486,601 (GRCm39) |
M411V |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,220,830 (GRCm39) |
D943G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,742,540 (GRCm39) |
T790A |
probably damaging |
Het |
Sfr1 |
T |
C |
19: 47,722,310 (GRCm39) |
L242P |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,494,428 (GRCm39) |
D819G |
possibly damaging |
Het |
Sult2b1 |
A |
G |
7: 45,383,506 (GRCm39) |
V183A |
probably damaging |
Het |
Tcf4 |
C |
A |
18: 69,769,918 (GRCm39) |
S8R |
possibly damaging |
Het |
Ttc7 |
A |
G |
17: 87,649,515 (GRCm39) |
D531G |
probably benign |
Het |
Uap1l1 |
A |
C |
2: 25,254,145 (GRCm39) |
C271G |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,201,150 (GRCm39) |
Y268C |
probably damaging |
Het |
Vinac1 |
A |
T |
2: 128,881,406 (GRCm39) |
D173E |
probably benign |
Het |
Zfp951 |
A |
T |
5: 104,963,155 (GRCm39) |
M137K |
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 |
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 |
R6807:Mapkbp1
|
UTSW |
2 |
119,851,640 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGGTTGCTTCTGCCATCTCAG -3'
(R):5'- TCAGGTCGTCAAAGATAAGCG -3'
Sequencing Primer
(F):5'- TCTCAGGCCAGTGAAAGTGCATATC -3'
(R):5'- GCCAACAGAGAAATTTCATTCTTCC -3'
|
Posted On |
2016-11-08 |