Incidental Mutation 'R1660:Mapkbp1'
| ID |
186643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
039696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119849029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 682
(I682F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066058]
[ENSMUST00000229024]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066058
AA Change: I682F
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: I682F
| 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: ENSMUST00000148161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184907
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229024
AA Change: I688F
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,870,507 (GRCm39) |
S3* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,624,750 (GRCm39) |
V3740I |
probably benign |
Het |
| Aida |
T |
C |
1: 183,079,127 (GRCm39) |
F22S |
probably damaging |
Het |
| Ankrd65 |
A |
T |
4: 155,876,528 (GRCm39) |
D220V |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,123,209 (GRCm39) |
C279* |
probably null |
Het |
| Ap3b1 |
T |
C |
13: 94,545,320 (GRCm39) |
V191A |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,117,884 (GRCm39) |
K595E |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,305 (GRCm39) |
T98A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,427 (GRCm39) |
S116T |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,582 (GRCm39) |
F429S |
possibly damaging |
Het |
| Ckap5 |
C |
A |
2: 91,393,303 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Cntn4 |
T |
A |
6: 106,656,258 (GRCm39) |
I853K |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,107 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
C |
T |
17: 80,553,157 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,306 (GRCm39) |
V1038D |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,358,314 (GRCm39) |
S462T |
possibly damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,177,183 (GRCm39) |
E180D |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,019,692 (GRCm39) |
|
probably null |
Het |
| Fam210a |
T |
C |
18: 68,409,167 (GRCm39) |
T48A |
probably benign |
Het |
| Fbxw5 |
G |
A |
2: 25,393,286 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,434 (GRCm39) |
C437R |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,636,691 (GRCm39) |
K458R |
probably benign |
Het |
| Grik2 |
C |
A |
10: 49,120,439 (GRCm39) |
G56* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,238,706 (GRCm39) |
T492A |
probably damaging |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lrrc51 |
T |
C |
7: 101,562,645 (GRCm39) |
Y145C |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mttp |
A |
T |
3: 137,808,954 (GRCm39) |
V718D |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,945,272 (GRCm39) |
D1012E |
unknown |
Het |
| Nbn |
G |
A |
4: 15,971,771 (GRCm39) |
G301D |
probably benign |
Het |
| Ncstn |
T |
A |
1: 171,894,339 (GRCm39) |
S677C |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,218 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
A |
G |
1: 170,342,206 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or51f2 |
T |
G |
7: 102,526,863 (GRCm39) |
Y179D |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,882 (GRCm39) |
L7* |
probably null |
Het |
| Or5b98 |
T |
A |
19: 12,931,055 (GRCm39) |
I34N |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Phf13 |
T |
C |
4: 152,076,962 (GRCm39) |
I77V |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,207,825 (GRCm39) |
K230E |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,642,535 (GRCm39) |
L469P |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,607,177 (GRCm39) |
T973S |
possibly damaging |
Het |
| Prpf40b |
C |
A |
15: 99,203,442 (GRCm39) |
H101Q |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,691,557 (GRCm39) |
V287A |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,714,924 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,246,337 (GRCm39) |
V4A |
probably damaging |
Het |
| Rnf180 |
T |
C |
13: 105,407,499 (GRCm39) |
T17A |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,340,440 (GRCm39) |
V179E |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,446,458 (GRCm39) |
S2835T |
probably damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,432 (GRCm39) |
H363L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,841 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,125,201 (GRCm39) |
V126G |
probably benign |
Het |
| Snph |
G |
A |
2: 151,436,398 (GRCm39) |
Q108* |
probably null |
Het |
| Snrpa1 |
T |
A |
7: 65,719,246 (GRCm39) |
V144E |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,248 (GRCm39) |
E65G |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,804,032 (GRCm39) |
Y468N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,687,580 (GRCm39) |
N388S |
possibly damaging |
Het |
| Tssk4 |
A |
G |
14: 55,888,029 (GRCm39) |
Q75R |
probably null |
Het |
| Tuba4a |
T |
C |
1: 75,192,547 (GRCm39) |
N356D |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,477 (GRCm39) |
D230V |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,261 (GRCm39) |
V4622A |
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,724 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,693 (GRCm39) |
H348N |
possibly damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,988 (GRCm39) |
M714L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,329 (GRCm39) |
S221P |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,184,789 (GRCm39) |
T251A |
probably benign |
Het |
| Zmynd15 |
A |
G |
11: 70,354,328 (GRCm39) |
Y267C |
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 |
|
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'- ACCACATTCCTTTGTGCAGCTCAG -3'
(R):5'- TGCTTTAGTCAGGTGATGCCTCCC -3'
Sequencing Primer
(F):5'- ATGGCACTCTCATTAAGGTGAGC -3'
(R):5'- TGATGCCTCCCAGGGTAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation