Incidental Mutation 'R9803:Mapkbp1'
| ID |
735299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119841256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 81
(H81L)
|
| 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: H81L
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: H81L
| 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: H81L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
G |
5: 113,841,964 (GRCm39) |
S52P |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,752,726 (GRCm39) |
M330T |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,698,340 (GRCm39) |
V905I |
possibly damaging |
Het |
| Anln |
G |
T |
9: 22,283,518 (GRCm39) |
D438E |
probably damaging |
Het |
| C1ql3 |
T |
C |
2: 13,009,200 (GRCm39) |
N215S |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,626 (GRCm39) |
S506G |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,175 (GRCm39) |
T556A |
probably benign |
Het |
| Cma1 |
A |
T |
14: 56,179,186 (GRCm39) |
N236K |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,262,986 (GRCm39) |
F724S |
|
Het |
| Cts8 |
T |
C |
13: 61,401,136 (GRCm39) |
K130R |
possibly damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,922 (GRCm39) |
T179S |
unknown |
Het |
| Fancd2os |
T |
C |
6: 113,574,938 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,394,866 (GRCm39) |
I168N |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,457,368 (GRCm39) |
G127D |
probably damaging |
Het |
| Gm11444 |
G |
A |
11: 85,737,699 (GRCm39) |
Q164* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,868,984 (GRCm39) |
V526E |
possibly damaging |
Het |
| Gm8947 |
T |
C |
1: 151,068,722 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hoxd13 |
C |
A |
2: 74,499,247 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Hps6 |
T |
A |
19: 45,993,947 (GRCm39) |
L628* |
probably null |
Het |
| Igha |
G |
A |
12: 113,222,759 (GRCm39) |
H221Y |
|
Het |
| Ighm |
A |
G |
12: 113,382,635 (GRCm39) |
S453P |
|
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Lfng |
A |
G |
5: 140,593,528 (GRCm39) |
T120A |
probably damaging |
Het |
| Lrrc4 |
C |
T |
6: 28,662,199 (GRCm39) |
A172T |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,787,520 (GRCm39) |
T386A |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mrto4 |
T |
A |
4: 139,076,381 (GRCm39) |
N70I |
probably damaging |
Het |
| Mxra8 |
C |
T |
4: 155,924,282 (GRCm39) |
|
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,483,997 (GRCm39) |
E548G |
|
Het |
| Ncan |
C |
T |
8: 70,560,751 (GRCm39) |
D739N |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,595 (GRCm39) |
V214A |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,259,563 (GRCm39) |
T215A |
possibly damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,088 (GRCm39) |
V86E |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,762,629 (GRCm39) |
V416M |
|
Het |
| Phf3 |
G |
T |
1: 30,869,872 (GRCm39) |
T392K |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,637,073 (GRCm39) |
V379E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,539 (GRCm39) |
Y1080C |
probably benign |
Het |
| Ptprs |
C |
A |
17: 56,729,217 (GRCm39) |
G1254C |
probably damaging |
Het |
| Qsox1 |
A |
T |
1: 155,658,416 (GRCm39) |
D384E |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,477,761 (GRCm39) |
F23L |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sidt2 |
A |
G |
9: 45,854,912 (GRCm39) |
Y588H |
probably damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,066 (GRCm39) |
I66K |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,107,980 (GRCm39) |
D474V |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,685 (GRCm39) |
G100D |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,184,637 (GRCm39) |
V75I |
probably benign |
Het |
| Tmem91 |
G |
T |
7: 25,369,988 (GRCm39) |
H95N |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,710,090 (GRCm39) |
K87E |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,680 (GRCm39) |
M209K |
probably benign |
Het |
| Tspan17 |
C |
A |
13: 54,941,092 (GRCm39) |
Q124K |
probably benign |
Het |
| Uts2b |
G |
A |
16: 27,179,692 (GRCm39) |
R105* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,730 (GRCm39) |
T282S |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,229,455 (GRCm39) |
M333L |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,781,833 (GRCm39) |
E482G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGTGACTAGGCTTCTG -3'
(R):5'- TGGTTGACCCTAGACTGTGC -3'
Sequencing Primer
(F):5'- ACTAGGCTTCTGGTGGAGAGC -3'
(R):5'- AGACTGTGCCCCCTTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation