Incidental Mutation 'R7564:Mapkbp1'
| ID |
585297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
045656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7564 (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 119844232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 319
(T319A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068516
(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: T319A
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: T319A
| 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 |
possibly damaging
Transcript: ENSMUST00000229024
AA Change: T325A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.2491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
G |
A |
9: 104,000,288 (GRCm39) |
E681K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,688,501 (GRCm39) |
M411K |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Bag4 |
G |
A |
8: 26,267,507 (GRCm39) |
R108* |
probably null |
Het |
| Cpa1 |
C |
T |
6: 30,641,767 (GRCm39) |
T197M |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,218 (GRCm39) |
V50A |
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,325 (GRCm39) |
D665G |
probably damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,588,297 (GRCm39) |
V499I |
probably damaging |
Het |
| Depdc5 |
T |
G |
5: 33,058,854 (GRCm39) |
I274M |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,570,817 (GRCm39) |
Q2219L |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,170,272 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,617,159 (GRCm39) |
S289R |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,140 (GRCm39) |
L1037P |
unknown |
Het |
| Fsip2 |
G |
A |
2: 82,819,361 (GRCm39) |
M5031I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,274,151 (GRCm39) |
M1435V |
probably benign |
Het |
| Gm8005 |
G |
T |
14: 42,261,499 (GRCm39) |
Q44K |
|
Het |
| Hdgfl2 |
T |
A |
17: 56,406,860 (GRCm39) |
D591E |
unknown |
Het |
| Hk3 |
C |
A |
13: 55,159,209 (GRCm39) |
C449F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,531,586 (GRCm39) |
M3228V |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,743,337 (GRCm39) |
R773C |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,500,612 (GRCm39) |
V659A |
probably benign |
Het |
| Lhb |
C |
T |
7: 45,071,101 (GRCm39) |
R109C |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,854 (GRCm39) |
I267T |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,878,590 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,447 (GRCm39) |
|
probably null |
Het |
| Mms19 |
T |
C |
19: 41,935,455 (GRCm39) |
T854A |
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,495 (GRCm39) |
T173A |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,678,322 (GRCm39) |
R668H |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,767,582 (GRCm39) |
E297K |
possibly damaging |
Het |
| Nrg2 |
A |
T |
18: 36,157,449 (GRCm39) |
L412Q |
probably damaging |
Het |
| Nrtn |
T |
C |
17: 57,058,473 (GRCm39) |
D176G |
probably damaging |
Het |
| Nrxn1 |
G |
T |
17: 90,670,334 (GRCm39) |
Q1134K |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or51t4 |
C |
T |
7: 102,598,473 (GRCm39) |
P267L |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,139,781 (GRCm39) |
V360A |
unknown |
Het |
| Pigr |
T |
A |
1: 130,769,403 (GRCm39) |
N71K |
possibly damaging |
Het |
| Ppox |
T |
C |
1: 171,107,765 (GRCm39) |
N96S |
probably benign |
Het |
| Pramel29 |
C |
A |
4: 143,939,525 (GRCm39) |
C4F |
probably damaging |
Het |
| Qrfprl |
G |
T |
6: 65,429,891 (GRCm39) |
E196* |
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,376,827 (GRCm39) |
T603A |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,603,770 (GRCm39) |
L97P |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,887,415 (GRCm39) |
I147V |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,760 (GRCm39) |
P630S |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,937 (GRCm39) |
T581A |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,498 (GRCm39) |
I380T |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,108 (GRCm39) |
V178D |
probably damaging |
Het |
| Smad7 |
C |
A |
18: 75,526,906 (GRCm39) |
L251I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,426,434 (GRCm39) |
S151N |
probably benign |
Het |
| St3gal4 |
C |
T |
9: 34,963,549 (GRCm39) |
R253Q |
probably benign |
Het |
| Trappc14 |
C |
A |
5: 138,261,104 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
T |
C |
17: 46,787,857 (GRCm39) |
I242V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,798,864 (GRCm39) |
A470V |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,091,258 (GRCm39) |
V28A |
probably damaging |
Het |
| Vmn1r149 |
A |
G |
7: 22,137,530 (GRCm39) |
V42A |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,752,740 (GRCm39) |
C514* |
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,662,366 (GRCm39) |
C570* |
probably null |
Het |
| Zfp277 |
T |
A |
12: 40,379,594 (GRCm39) |
R313S |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,967 (GRCm39) |
C186S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,248,954 (GRCm39) |
|
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 |
|
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 |
|
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'- GGCTTGGGAAGGATTAAGCC -3'
(R):5'- TCACCTAAGATGCACCCAGG -3'
Sequencing Primer
(F):5'- CAAGCTAAATGGGAAGATGGCCC -3'
(R):5'- TGAGACAGTCCATGGTCCTCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation