Incidental Mutation 'R0788:Mapkbp1'
| ID |
76331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
038968-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119854482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1354
(P1354S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068516
(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 benign
Transcript: ENSMUST00000066058
AA Change: P1354S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: P1354S
| 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 |
noncoding transcript
Transcript: ENSMUST00000148161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229024
AA Change: P1360S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| 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 |
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
| Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
| Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
| Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,809,332 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
| Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
| Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
| Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,401,886 (GRCm39) |
K59E |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
| Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,532,788 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
| Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
| Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
| Slfn3 |
G |
A |
11: 83,103,662 (GRCm39) |
G178S |
possibly damaging |
Het |
| Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
| Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
| Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
| Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,092 (GRCm39) |
|
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
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 |
|
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 |
|
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'- AGCTCCTGTACCGATCCGAATCTC -3'
(R):5'- GTGGCAAGAGTGTCTCACCATCAG -3'
Sequencing Primer
(F):5'- TAGCAGGGCTCACCTTGTC -3'
(R):5'- CTCACCATCAGAGGTGTGACTTATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation