Incidental Mutation 'R5696:Mapkbp1'
| ID |
450643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 119852201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066058]
[ENSMUST00000066058]
[ENSMUST00000229024]
[ENSMUST00000229024]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
probably null
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: ENSMUST00000141511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184907
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229024
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229024
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
G |
A |
7: 139,569,159 (GRCm39) |
R186W |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,540,529 (GRCm39) |
I660T |
probably damaging |
Het |
| Amtn |
T |
A |
5: 88,532,944 (GRCm39) |
Y186* |
probably null |
Het |
| Atosa |
A |
G |
9: 74,917,399 (GRCm39) |
E666G |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,569 (GRCm39) |
S453P |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,813 (GRCm39) |
L840P |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,306,165 (GRCm39) |
E527G |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,779,316 (GRCm39) |
Y164N |
possibly damaging |
Het |
| Ccnh |
T |
A |
13: 85,344,446 (GRCm39) |
|
probably null |
Het |
| Cdon |
G |
T |
9: 35,403,162 (GRCm39) |
V1091F |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,548,267 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,745,611 (GRCm39) |
K445E |
possibly damaging |
Het |
| Cfap46 |
A |
G |
7: 139,191,947 (GRCm39) |
S2357P |
probably damaging |
Het |
| Commd4 |
A |
T |
9: 57,063,499 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,196,934 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,646 (GRCm39) |
V165E |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,065,008 (GRCm39) |
K2618* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,991,882 (GRCm39) |
Y1229H |
probably benign |
Het |
| Endov |
T |
A |
11: 119,382,625 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,332,803 (GRCm39) |
V717M |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,546 (GRCm39) |
L239P |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,916,182 (GRCm39) |
V367D |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Gbp8 |
C |
T |
5: 105,166,682 (GRCm39) |
V216I |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,059,936 (GRCm39) |
A239T |
probably benign |
Het |
| Gm11569 |
C |
T |
11: 99,689,556 (GRCm39) |
|
probably benign |
Het |
| Gnas |
C |
A |
2: 174,141,468 (GRCm39) |
|
probably benign |
Het |
| Grb10 |
T |
A |
11: 11,883,566 (GRCm39) |
N508I |
probably benign |
Het |
| Gykl1 |
T |
G |
18: 52,827,267 (GRCm39) |
I158M |
probably benign |
Het |
| Ide |
G |
A |
19: 37,295,420 (GRCm39) |
T214M |
unknown |
Het |
| Il12rb2 |
T |
A |
6: 67,272,262 (GRCm39) |
Q341H |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,740,744 (GRCm39) |
E1946G |
probably benign |
Het |
| Kdelr3 |
T |
C |
15: 79,410,100 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
C |
4: 149,358,306 (GRCm39) |
|
probably null |
Het |
| Kri1 |
A |
G |
9: 21,191,533 (GRCm39) |
I320T |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,486,646 (GRCm39) |
S111P |
probably benign |
Het |
| Lpcat2b |
C |
A |
5: 107,580,773 (GRCm39) |
P34Q |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,590,080 (GRCm39) |
T49S |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,780,896 (GRCm39) |
H421Q |
probably benign |
Het |
| Mcm4 |
A |
G |
16: 15,443,434 (GRCm39) |
S830P |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,736 (GRCm38) |
|
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,758,417 (GRCm39) |
R551S |
probably benign |
Het |
| Nol4l |
T |
C |
2: 153,260,026 (GRCm39) |
T143A |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,362 (GRCm39) |
H24R |
possibly damaging |
Het |
| Or51g1 |
T |
A |
7: 102,633,748 (GRCm39) |
T208S |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,742 (GRCm39) |
|
probably null |
Het |
| Or7a39 |
A |
T |
10: 78,715,919 (GRCm39) |
R304S |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,616,806 (GRCm39) |
A1812D |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,305,960 (GRCm39) |
G26C |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,906,410 (GRCm39) |
F409I |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,625 (GRCm39) |
M1197K |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,335,828 (GRCm39) |
I2114V |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,731 (GRCm39) |
Y449H |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,195 (GRCm39) |
D927G |
probably damaging |
Het |
| Secisbp2 |
C |
A |
13: 51,833,857 (GRCm39) |
Q666K |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,001,219 (GRCm39) |
I106T |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,797,831 (GRCm39) |
Q1518K |
probably damaging |
Het |
| Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,468,301 (GRCm39) |
V306A |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,178 (GRCm39) |
S506P |
probably benign |
Het |
| Syne2 |
A |
C |
12: 76,040,919 (GRCm39) |
D3859A |
probably benign |
Het |
| Tab1 |
T |
A |
15: 80,032,930 (GRCm39) |
Y71* |
probably null |
Het |
| Tarbp1 |
A |
C |
8: 127,174,079 (GRCm39) |
M909R |
probably damaging |
Het |
| Tex15 |
T |
G |
8: 34,063,220 (GRCm39) |
S1157R |
probably benign |
Het |
| Tnni3 |
G |
A |
7: 4,523,453 (GRCm39) |
T120I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,888 (GRCm39) |
E4387G |
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,534 (GRCm39) |
|
silent |
Het |
| Unc5d |
T |
C |
8: 29,156,870 (GRCm39) |
I783V |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,474 (GRCm39) |
T266A |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,468 (GRCm39) |
V315I |
probably benign |
Het |
| Zbtb48 |
G |
T |
4: 152,105,067 (GRCm39) |
H532N |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
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 |
|
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'- AGAACTGACTGGGCTGTATTG -3'
(R):5'- ATCCATGGTAGGGCTGTCAC -3'
Sequencing Primer
(F):5'- TAGCAAGAGCCTGGCAGTC -3'
(R):5'- CACTGGGTTCCGGGTAGACAATAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation