Incidental Mutation 'R5049:Mapkbp1'
| ID |
394502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
042639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 119845982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066058]
[ENSMUST00000229024]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066058
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
| 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 |
noncoding transcript
Transcript: ENSMUST00000128077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229024
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.8%
- 20x: 90.4%
|
| Validation Efficiency |
97% (89/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,321,698 (GRCm39) |
S76P |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,641,610 (GRCm39) |
|
probably benign |
Het |
| Angptl7 |
A |
G |
4: 148,582,468 (GRCm39) |
F143L |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,686 (GRCm39) |
T283A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,094,655 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,095,539 (GRCm39) |
M1016T |
probably damaging |
Het |
| Brd3 |
G |
T |
2: 27,340,589 (GRCm39) |
|
probably benign |
Het |
| C130026L21Rik |
T |
A |
5: 111,729,702 (GRCm39) |
|
noncoding transcript |
Het |
| Cbr4 |
T |
G |
8: 61,948,238 (GRCm39) |
|
probably null |
Het |
| Ccl19 |
A |
G |
4: 42,756,268 (GRCm39) |
|
probably null |
Het |
| Ccl2 |
G |
T |
11: 81,927,333 (GRCm39) |
C34F |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,456,852 (GRCm39) |
T873S |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,338,992 (GRCm39) |
N3118S |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,478,488 (GRCm39) |
T451A |
probably damaging |
Het |
| Epb41l1 |
C |
A |
2: 156,366,859 (GRCm39) |
P564Q |
possibly damaging |
Het |
| Extl3 |
A |
T |
14: 65,313,481 (GRCm39) |
M567K |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
| Foxf2 |
T |
C |
13: 31,811,158 (GRCm39) |
S366P |
probably benign |
Het |
| Gamt |
T |
A |
10: 80,094,788 (GRCm39) |
T186S |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,744,730 (GRCm39) |
M1642K |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,937,747 (GRCm39) |
M115K |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,661,073 (GRCm39) |
D183E |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,871,524 (GRCm39) |
|
probably null |
Het |
| Hes2 |
C |
A |
4: 152,244,331 (GRCm39) |
L39I |
possibly damaging |
Het |
| Hopx |
C |
A |
5: 77,242,899 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
C |
T |
13: 8,938,078 (GRCm39) |
P175S |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,481 (GRCm39) |
C325* |
probably null |
Het |
| Ighv7-3 |
T |
C |
12: 114,116,953 (GRCm39) |
I70V |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 66,157,746 (GRCm39) |
T110A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,075,708 (GRCm39) |
D451G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,715,668 (GRCm39) |
E1708G |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,705,086 (GRCm39) |
D371E |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,810,649 (GRCm39) |
V773E |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,908,882 (GRCm39) |
L23* |
probably null |
Het |
| Mrpl30 |
A |
T |
1: 37,936,791 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,219,002 (GRCm39) |
T318S |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,259 (GRCm39) |
L103Q |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,200,320 (GRCm39) |
H286Q |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,873,188 (GRCm39) |
K1144R |
possibly damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,321,012 (GRCm39) |
S22P |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,078,221 (GRCm39) |
E302D |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,538 (GRCm39) |
K205E |
probably damaging |
Het |
| Puf60 |
T |
A |
15: 75,942,323 (GRCm39) |
I500F |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,470,516 (GRCm39) |
I4623N |
probably damaging |
Het |
| Sh3bp5l |
T |
A |
11: 58,228,950 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,260,906 (GRCm39) |
Y608H |
probably damaging |
Het |
| Socs7 |
G |
T |
11: 97,269,469 (GRCm39) |
R429L |
probably benign |
Het |
| Sorcs3 |
C |
A |
19: 48,748,390 (GRCm39) |
N786K |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,218,207 (GRCm39) |
M680K |
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,540 (GRCm39) |
T90A |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,000 (GRCm39) |
H1983Q |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,536 (GRCm39) |
H143R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,699,231 (GRCm39) |
C833* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,925,057 (GRCm39) |
S355P |
probably benign |
Het |
| Tmem86b |
G |
A |
7: 4,631,465 (GRCm39) |
P191S |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,936,223 (GRCm39) |
C238R |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,968,308 (GRCm39) |
E361D |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,040,633 (GRCm39) |
V298A |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,536 (GRCm39) |
N22S |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,091 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,763,527 (GRCm39) |
I2492N |
probably damaging |
Het |
| Ufl1 |
G |
T |
4: 25,254,773 (GRCm39) |
A561E |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,752,341 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn1r184 |
A |
G |
7: 25,966,793 (GRCm39) |
I180V |
possibly damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,920 (GRCm39) |
F195S |
possibly damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,306,019 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,298 (GRCm39) |
T647A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,813,336 (GRCm39) |
H198Q |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,874,627 (GRCm39) |
T154A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,347,478 (GRCm39) |
M3240V |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,600,872 (GRCm39) |
R295G |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,184,938 (GRCm39) |
V323I |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
Het |
| Zswim6 |
C |
T |
13: 107,863,110 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- GCGGAAGTCTAATTCTCTCCC -3'
(R):5'- AAGCCTGAGTGTTCCCATCC -3'
Sequencing Primer
(F):5'- GGAAGTCTAATTCTCTCCCTCTGTC -3'
(R):5'- GAGTGTTCCCATCCACATAGATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation