Incidental Mutation 'R1300:Mapkbp1'
| ID |
158275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
039366-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119844136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 293
(Y293H)
|
| 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
AA Change: Y287H
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: Y287H
| 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
AA Change: Y293H
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,283,967 (GRCm39) |
I2535T |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,881 (GRCm39) |
Y114* |
probably null |
Het |
| Ank3 |
A |
G |
10: 69,840,495 (GRCm39) |
I952V |
probably benign |
Het |
| Ankar |
A |
C |
1: 72,682,323 (GRCm39) |
V1414G |
probably benign |
Het |
| Arl2 |
A |
G |
19: 6,191,103 (GRCm39) |
M10T |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,972,442 (GRCm39) |
I352T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,274,419 (GRCm39) |
H2162L |
probably benign |
Het |
| Cep170b |
A |
C |
12: 112,703,691 (GRCm39) |
M622L |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,119,552 (GRCm39) |
V337A |
probably benign |
Het |
| Cpn2 |
T |
A |
16: 30,078,481 (GRCm39) |
T407S |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,870,333 (GRCm39) |
W263R |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,189 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
C |
13: 113,502,694 (GRCm39) |
F133S |
probably damaging |
Het |
| Dennd5a |
A |
T |
7: 109,518,614 (GRCm39) |
I485N |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,101,692 (GRCm39) |
Q1892R |
probably benign |
Het |
| Dse |
G |
A |
10: 34,028,411 (GRCm39) |
A893V |
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,465,206 (GRCm39) |
S466A |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,377,651 (GRCm39) |
V419A |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,294,464 (GRCm39) |
V1125A |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,821,426 (GRCm39) |
G2576C |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,145,746 (GRCm39) |
D162E |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 52,959,454 (GRCm39) |
T165N |
probably benign |
Het |
| Gm8674 |
T |
C |
13: 50,055,758 (GRCm39) |
|
noncoding transcript |
Het |
| Gtsf2 |
T |
A |
15: 103,352,780 (GRCm39) |
L39F |
possibly damaging |
Het |
| Hck |
A |
C |
2: 152,976,067 (GRCm39) |
D202A |
possibly damaging |
Het |
| Il12b |
T |
A |
11: 44,298,903 (GRCm39) |
|
probably null |
Het |
| Irf4 |
T |
C |
13: 30,941,568 (GRCm39) |
L307P |
probably damaging |
Het |
| Keg1 |
G |
A |
19: 12,696,368 (GRCm39) |
R184Q |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,610,452 (GRCm39) |
D218G |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,029 (GRCm39) |
K1231E |
unknown |
Het |
| Mfsd8 |
A |
T |
3: 40,778,333 (GRCm39) |
D310E |
probably benign |
Het |
| Mmp9 |
A |
T |
2: 164,790,876 (GRCm39) |
D88V |
probably damaging |
Het |
| Muc5ac |
G |
T |
7: 141,370,666 (GRCm39) |
C2522F |
possibly damaging |
Het |
| Myo1e |
A |
T |
9: 70,209,065 (GRCm39) |
I110F |
probably damaging |
Het |
| Neu1 |
A |
T |
17: 35,153,314 (GRCm39) |
Y279F |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,284,209 (GRCm39) |
H50R |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,446,594 (GRCm39) |
S780F |
possibly damaging |
Het |
| Npc1l1 |
T |
G |
11: 6,177,859 (GRCm39) |
D517A |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,114,951 (GRCm39) |
F111L |
probably benign |
Het |
| Or1e32 |
T |
C |
11: 73,705,072 (GRCm39) |
T279A |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,667 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or52e3 |
G |
A |
7: 102,869,324 (GRCm39) |
R133Q |
probably benign |
Het |
| P3h2 |
C |
A |
16: 25,815,986 (GRCm39) |
E176* |
probably null |
Het |
| Parp10 |
C |
A |
15: 76,126,190 (GRCm39) |
D333Y |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,450 (GRCm39) |
A532V |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,159,611 (GRCm39) |
T818S |
possibly damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,563 (GRCm39) |
V78D |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,758,800 (GRCm39) |
L1450Q |
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,859 (GRCm39) |
E262G |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,706,014 (GRCm39) |
E19G |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,493,272 (GRCm39) |
I921T |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,101,908 (GRCm39) |
H106L |
probably benign |
Het |
| Slc10a6 |
T |
C |
5: 103,754,550 (GRCm39) |
D327G |
probably benign |
Het |
| Syt1 |
A |
T |
10: 108,467,682 (GRCm39) |
V205D |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,064,512 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
A |
6: 71,111,175 (GRCm39) |
Q231L |
probably damaging |
Het |
| Ttc4 |
T |
A |
4: 106,524,763 (GRCm39) |
H304L |
probably damaging |
Het |
| Unc5c |
G |
A |
3: 141,534,304 (GRCm39) |
V923M |
possibly damaging |
Het |
| Zfp777 |
T |
C |
6: 48,002,704 (GRCm39) |
E506G |
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 |
|
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 |
|
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'- TGGAGGGAGGGCATTTCTAGATGAC -3'
(R):5'- ACCTAAGATGCACCCAGGTGAGAC -3'
Sequencing Primer
(F):5'- AGGGCATTTCTAGATGACACCTG -3'
(R):5'- ACCCAGGTTTCTGTCTACAAAGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation