Incidental Mutation 'R6263:Mapkbp1'
| ID |
506804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
044437-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119853772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1199
(S1199P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000066058]
[ENSMUST00000129679]
[ENSMUST00000129685]
[ENSMUST00000135365]
[ENSMUST00000229024]
[ENSMUST00000156805]
[ENSMUST00000162393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044675
|
| SMART Domains |
Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
307 |
4.31e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066058
AA Change: S1193P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: S1193P
| 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: ENSMUST00000129679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129685
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
1012 |
1.99e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139862
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229024
AA Change: S1199P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156805
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
892 |
8.56e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162393
|
| SMART Domains |
Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
242 |
4.42e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,995,641 (GRCm39) |
I5642V |
probably benign |
Het |
| Atp5f1a |
A |
G |
18: 77,866,930 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,985,260 (GRCm39) |
N863K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,990,453 (GRCm39) |
F1766L |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,938,807 (GRCm39) |
Q266R |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,964,154 (GRCm39) |
D105E |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,539 (GRCm39) |
D418V |
probably damaging |
Het |
| Cnnm2 |
C |
A |
19: 46,845,344 (GRCm39) |
T612K |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,735 (GRCm39) |
V55A |
unknown |
Het |
| Cpd |
A |
C |
11: 76,737,097 (GRCm39) |
D232E |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,947,333 (GRCm39) |
H95R |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,937,130 (GRCm39) |
H596L |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,726,515 (GRCm39) |
R855G |
possibly damaging |
Het |
| Cwc25 |
A |
G |
11: 97,644,053 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cyp2c38 |
G |
A |
19: 39,380,659 (GRCm39) |
P409S |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,679,139 (GRCm39) |
S2P |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,348,238 (GRCm39) |
G2570W |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,174,292 (GRCm39) |
V528E |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,810,312 (GRCm39) |
D3150N |
unknown |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
C |
A |
7: 35,002,848 (GRCm39) |
D221Y |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,213,895 (GRCm39) |
Y1225C |
probably damaging |
Het |
| Itga7 |
T |
A |
10: 128,779,955 (GRCm39) |
D501E |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,243 (GRCm39) |
S743P |
possibly damaging |
Het |
| Lilra5 |
A |
T |
7: 4,241,360 (GRCm39) |
Y99F |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,410,265 (GRCm39) |
V49A |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,603 (GRCm39) |
R267* |
probably null |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
A |
T |
11: 68,701,058 (GRCm39) |
N1756Y |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,159,378 (GRCm39) |
I31T |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,708,570 (GRCm39) |
F732I |
probably benign |
Het |
| Or4a39 |
C |
G |
2: 89,237,074 (GRCm39) |
M116I |
possibly damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,104 (GRCm39) |
C145S |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,403 (GRCm39) |
V269F |
possibly damaging |
Het |
| Pax6 |
T |
C |
2: 105,523,199 (GRCm39) |
|
probably null |
Het |
| Phb1 |
A |
G |
11: 95,568,941 (GRCm39) |
E192G |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,309,650 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,046,189 (GRCm39) |
V942E |
probably damaging |
Het |
| Potegl |
T |
A |
2: 23,156,745 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
G |
A |
5: 123,877,751 (GRCm39) |
|
probably benign |
Het |
| Septin8 |
G |
A |
11: 53,439,210 (GRCm39) |
C460Y |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,130,508 (GRCm39) |
I59T |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,065,365 (GRCm39) |
I172N |
possibly damaging |
Het |
| Smg5 |
A |
T |
3: 88,249,208 (GRCm39) |
N40Y |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,818,541 (GRCm39) |
V633A |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,324 (GRCm39) |
V22A |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,076,295 (GRCm39) |
M741K |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,873,797 (GRCm39) |
Q1246R |
probably benign |
Het |
| Sval1 |
A |
G |
6: 41,928,660 (GRCm39) |
E24G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,867 (GRCm39) |
I59V |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,857,992 (GRCm39) |
T85S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,996 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
A |
C |
19: 18,831,472 (GRCm39) |
T1446P |
possibly damaging |
Het |
| Tsc22d4 |
A |
T |
5: 137,766,441 (GRCm39) |
K502N |
possibly damaging |
Het |
| Tssk3 |
C |
T |
4: 129,383,051 (GRCm39) |
S207N |
probably benign |
Het |
| Ttbk1 |
G |
T |
17: 46,778,188 (GRCm39) |
P618Q |
probably damaging |
Het |
| Ttll6 |
A |
T |
11: 96,047,371 (GRCm39) |
M657L |
probably benign |
Het |
| Ubash3a |
T |
A |
17: 31,434,069 (GRCm39) |
I138N |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,090,839 (GRCm39) |
Y490C |
probably damaging |
Het |
| Vmn1r82 |
G |
T |
7: 12,039,461 (GRCm39) |
V127F |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,479,691 (GRCm39) |
S161T |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,388,824 (GRCm39) |
I58M |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,579,417 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,619 (GRCm39) |
Y324* |
probably null |
Het |
| Zfp747 |
A |
C |
7: 126,975,138 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,905,702 (GRCm39) |
Y33C |
probably 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 |
|
R5696:Mapkbp1
|
UTSW |
2 |
119,852,201 (GRCm39) |
splice site |
probably null |
|
|
R5891:Mapkbp1
|
UTSW |
2 |
119,854,413 (GRCm39) |
nonsense |
probably null |
|
|
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'- GTCTGGTGAGCAGCTGAAAG -3'
(R):5'- TGCAAATGCTAGGGCTCAGTC -3'
Sequencing Primer
(F):5'- CAGCTGAAAGGCAGTGGTG -3'
(R):5'- TAGGGCTCAGTCCCCAGTTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation