Incidental Mutation 'R7159:Mapkbp1'
| ID |
557483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
045259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119855613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1438
(E1438G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000066058]
[ENSMUST00000129679]
[ENSMUST00000129685]
[ENSMUST00000135365]
[ENSMUST00000156805]
[ENSMUST00000162393]
[ENSMUST00000229024]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000066058
AA Change: E1438G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: E1438G
| 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 |
probably benign
Transcript: ENSMUST00000135365
|
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229024
AA Change: E1444G
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,380,327 (GRCm39) |
V500E |
possibly damaging |
Het |
| Ankrd34b |
T |
C |
13: 92,575,970 (GRCm39) |
S401P |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,668,848 (GRCm39) |
D41E |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,480,879 (GRCm39) |
N15S |
unknown |
Het |
| Arsa |
A |
T |
15: 89,358,921 (GRCm39) |
|
probably null |
Het |
| B3gnt9 |
C |
A |
8: 105,981,064 (GRCm39) |
C108F |
probably damaging |
Het |
| Bbc3 |
C |
A |
7: 16,047,733 (GRCm39) |
Y152* |
probably null |
Het |
| Btbd1 |
T |
C |
7: 81,467,957 (GRCm39) |
M188V |
probably benign |
Het |
| Caln1 |
C |
T |
5: 130,851,838 (GRCm39) |
T209I |
probably benign |
Het |
| Casp12 |
C |
T |
9: 5,353,763 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ccm2l |
A |
T |
2: 152,912,787 (GRCm39) |
I109F |
probably damaging |
Het |
| Chst15 |
A |
C |
7: 131,871,987 (GRCm39) |
L98R |
probably damaging |
Het |
| Ctsq |
A |
G |
13: 61,186,737 (GRCm39) |
M89T |
probably benign |
Het |
| Ddx39b |
T |
C |
17: 35,465,986 (GRCm39) |
V169A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,678,927 (GRCm39) |
H583R |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,019,763 (GRCm39) |
I139F |
probably damaging |
Het |
| Gm7145 |
C |
G |
1: 117,913,561 (GRCm39) |
H148D |
probably benign |
Het |
| Gpr62 |
C |
A |
9: 106,342,641 (GRCm39) |
A96S |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,475,618 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
T |
A |
6: 120,500,432 (GRCm39) |
T89S |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,510,592 (GRCm39) |
Y512F |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,044 (GRCm39) |
E304* |
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lrp6 |
C |
A |
6: 134,484,514 (GRCm39) |
V370L |
probably benign |
Het |
| Lrrc3c |
G |
A |
11: 98,490,144 (GRCm39) |
G167D |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,813,909 (GRCm39) |
T291M |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,183,438 (GRCm39) |
T1947A |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,881,937 (GRCm39) |
T60S |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,078,845 (GRCm39) |
I868F |
probably benign |
Het |
| Myom3 |
A |
T |
4: 135,536,162 (GRCm39) |
I1278F |
probably damaging |
Het |
| Nbn |
G |
T |
4: 15,983,677 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
G |
T |
16: 81,287,262 (GRCm39) |
S392I |
probably damaging |
Het |
| Nrg3 |
A |
C |
14: 38,092,692 (GRCm39) |
L647* |
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,890 (GRCm39) |
L37Q |
possibly damaging |
Het |
| Or2t35 |
T |
C |
14: 14,407,251 (GRCm38) |
S8P |
possibly damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,185 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,956 (GRCm39) |
|
probably null |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,545 (GRCm39) |
N180D |
possibly damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,972 (GRCm39) |
N507S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,087,174 (GRCm39) |
V492A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,914,366 (GRCm39) |
T603A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,254,928 (GRCm39) |
I174F |
probably benign |
Het |
| Polq |
A |
T |
16: 36,883,215 (GRCm39) |
Q1793L |
possibly damaging |
Het |
| Prmt9 |
T |
C |
8: 78,282,393 (GRCm39) |
F97L |
probably benign |
Het |
| Prpsap1 |
T |
C |
11: 116,384,870 (GRCm39) |
E13G |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,851 (GRCm39) |
L280P |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,299,659 (GRCm39) |
S124G |
probably benign |
Het |
| Rdh5 |
A |
G |
10: 128,754,184 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rigi |
A |
G |
4: 40,213,804 (GRCm39) |
V618A |
probably benign |
Het |
| Ryr2 |
T |
G |
13: 11,825,794 (GRCm39) |
R561S |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,158,229 (GRCm39) |
L593P |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,004 (GRCm39) |
I93V |
probably benign |
Het |
| Sema4f |
C |
A |
6: 82,894,864 (GRCm39) |
V444L |
possibly damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,719,504 (GRCm39) |
M1L |
probably damaging |
Het |
| Spata33 |
T |
C |
8: 123,941,134 (GRCm39) |
L61P |
unknown |
Het |
| Stard10 |
A |
T |
7: 100,992,343 (GRCm39) |
|
probably null |
Het |
| Stub1 |
T |
C |
17: 26,051,038 (GRCm39) |
I115V |
probably benign |
Het |
| Tlcd3b |
T |
C |
7: 126,426,667 (GRCm39) |
F80S |
probably damaging |
Het |
| Tmem247 |
C |
T |
17: 87,225,710 (GRCm39) |
T50I |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,771,223 (GRCm39) |
M1103V |
possibly damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,526 (GRCm39) |
Y245C |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,068,130 (GRCm39) |
I284V |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,976,692 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,740,092 (GRCm39) |
L3528F |
unknown |
Het |
| Ttn |
A |
G |
2: 76,560,918 (GRCm39) |
L29161S |
probably damaging |
Het |
| Ube2v2 |
G |
A |
16: 15,398,948 (GRCm39) |
T47I |
probably benign |
Het |
| Vwa5b1 |
C |
T |
4: 138,302,733 (GRCm39) |
A921T |
possibly damaging |
Het |
| Xylt1 |
T |
A |
7: 117,236,829 (GRCm39) |
F526Y |
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 |
|
|
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 |
|
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'- GGTTCTAATAGTCTGGAGGGATCC -3'
(R):5'- CTCAGAGTCTACGCTCCATG -3'
Sequencing Primer
(F):5'- AGGGATCCTCATCTGGGC -3'
(R):5'- CATGCGCCGCTCCACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation