Incidental Mutation 'R1104:Mapkbp1'
| ID |
98329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkbp1
|
| Ensembl Gene |
ENSMUSG00000033902 |
| Gene Name |
mitogen-activated protein kinase binding protein 1 |
| Synonyms |
2810483F24Rik, Jnkbp1 |
| MMRRC Submission |
039177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119803180-119857889 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 119841554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
| 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 |
probably benign
Transcript: ENSMUST00000229024
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930550C14Rik |
A |
G |
9: 53,332,917 (GRCm39) |
I93V |
probably benign |
Het |
| Abcg5 |
A |
C |
17: 84,989,477 (GRCm39) |
I77S |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,171,545 (GRCm39) |
Y762C |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,716,962 (GRCm39) |
S26P |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,426 (GRCm39) |
Y441C |
probably damaging |
Het |
| B3gnt3 |
A |
G |
8: 72,146,481 (GRCm39) |
L16S |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,002 (GRCm39) |
D1677E |
probably damaging |
Het |
| Cd5l |
T |
A |
3: 87,268,206 (GRCm39) |
S18T |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,792,981 (GRCm39) |
S64* |
probably null |
Het |
| Cryzl2 |
T |
A |
1: 157,298,174 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dhrs1 |
T |
C |
14: 55,981,162 (GRCm39) |
K83E |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,980 (GRCm39) |
F526L |
probably benign |
Het |
| Dnajb14 |
T |
A |
3: 137,614,115 (GRCm39) |
M342K |
possibly damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,761 (GRCm39) |
V101A |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,979,302 (GRCm39) |
T321P |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,856,530 (GRCm39) |
R1971Q |
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,754 (GRCm39) |
N608S |
probably damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,281,998 (GRCm39) |
V451D |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,924,235 (GRCm39) |
L251P |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,781,080 (GRCm39) |
S222C |
probably damaging |
Het |
| Gsr |
A |
G |
8: 34,159,949 (GRCm39) |
E99G |
probably damaging |
Het |
| H1f5 |
T |
C |
13: 21,964,451 (GRCm39) |
T92A |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,131,679 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,844,774 (GRCm39) |
I849N |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,323 (GRCm39) |
T930A |
probably benign |
Het |
| Ivns1abp |
T |
A |
1: 151,235,860 (GRCm39) |
M309K |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,952,864 (GRCm39) |
F1078Y |
probably damaging |
Het |
| Krt12 |
C |
A |
11: 99,312,792 (GRCm39) |
G84V |
unknown |
Het |
| Krt40 |
T |
G |
11: 99,431,059 (GRCm39) |
E150A |
probably damaging |
Het |
| Lcn11 |
G |
T |
2: 25,669,115 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
T |
19: 41,574,502 (GRCm39) |
G1086C |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,898 (GRCm39) |
I57T |
possibly damaging |
Het |
| Lrrc46 |
C |
T |
11: 96,926,997 (GRCm39) |
V107M |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,832 (GRCm39) |
I45T |
probably damaging |
Het |
| Mark3 |
C |
T |
12: 111,584,831 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,014 (GRCm39) |
A642V |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,019,991 (GRCm39) |
S1814P |
possibly damaging |
Het |
| Ndst1 |
T |
A |
18: 60,830,218 (GRCm39) |
S631C |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,103,691 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,351,989 (GRCm39) |
M202K |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,090 (GRCm39) |
M196K |
probably benign |
Het |
| Parn |
A |
G |
16: 13,485,449 (GRCm39) |
Y16H |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,664,785 (GRCm39) |
|
probably benign |
Het |
| Prl3d1 |
C |
T |
13: 27,283,992 (GRCm39) |
T187I |
probably benign |
Het |
| Ptgir |
G |
A |
7: 16,641,055 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
C |
T |
1: 160,059,445 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,368,055 (GRCm39) |
Y4697H |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,808,364 (GRCm39) |
I598F |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,684,855 (GRCm39) |
V3029M |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,920 (GRCm39) |
F335S |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,945,032 (GRCm39) |
M1V |
probably null |
Het |
| Stau2 |
A |
T |
1: 16,510,585 (GRCm39) |
Y124* |
probably null |
Het |
| Tbl3 |
A |
G |
17: 24,920,580 (GRCm39) |
I652T |
probably benign |
Het |
| Trappc3 |
C |
T |
4: 126,166,759 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
A |
T |
8: 65,454,071 (GRCm39) |
F59L |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,453 (GRCm39) |
F4686S |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,840,529 (GRCm39) |
T1672A |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,758 (GRCm39) |
I266N |
possibly damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,487 (GRCm39) |
V657E |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,529,802 (GRCm39) |
A548S |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,500 (GRCm39) |
Y609C |
probably damaging |
Het |
| Znfx1 |
C |
A |
2: 166,897,560 (GRCm39) |
E455* |
probably null |
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 |
|
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'- ATCCTCAACAGCTCCAGGTGTGTG -3'
(R):5'- AGCATTTGACATAACCTTCATGACCCC -3'
Sequencing Primer
(F):5'- GGACGCGCATATACACTCTTG -3'
(R):5'- gcctcgaactcagaaatccac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation