Incidental Mutation 'R4882:Map3k9'
ID |
375346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k9
|
Ensembl Gene |
ENSMUSG00000042724 |
Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
Synonyms |
Mlk1 |
MMRRC Submission |
042490-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4882 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81770936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 884
(R884Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035987]
[ENSMUST00000222322]
|
AlphaFold |
Q3U1V8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035987
AA Change: R884Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041819 Gene: ENSMUSG00000042724 AA Change: R884Q
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
SH3
|
48 |
108 |
1.61e-20 |
SMART |
TyrKc
|
137 |
396 |
6.72e-89 |
SMART |
low complexity region
|
449 |
469 |
N/A |
INTRINSIC |
low complexity region
|
573 |
590 |
N/A |
INTRINSIC |
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
low complexity region
|
722 |
736 |
N/A |
INTRINSIC |
low complexity region
|
749 |
765 |
N/A |
INTRINSIC |
low complexity region
|
772 |
783 |
N/A |
INTRINSIC |
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
low complexity region
|
901 |
915 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1036 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221438
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222322
AA Change: R907Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223292
|
Meta Mutation Damage Score |
0.1372 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
98% (59/60) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,990,112 (GRCm39) |
D764G |
probably damaging |
Het |
Adgrg6 |
T |
A |
10: 14,310,081 (GRCm39) |
I775F |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,983,261 (GRCm39) |
M1515K |
probably damaging |
Het |
Aqp4 |
A |
G |
18: 15,531,311 (GRCm39) |
V150A |
possibly damaging |
Het |
Axdnd1 |
A |
T |
1: 156,223,129 (GRCm39) |
|
probably null |
Het |
Bap1 |
C |
T |
14: 30,973,678 (GRCm39) |
|
probably benign |
Het |
BB014433 |
A |
G |
8: 15,092,016 (GRCm39) |
V279A |
probably benign |
Het |
Cacng8 |
T |
C |
7: 3,460,669 (GRCm39) |
Y151H |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,389 (GRCm39) |
S726P |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,217,380 (GRCm39) |
T104A |
probably benign |
Het |
Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
Ceacam13 |
A |
G |
7: 17,746,997 (GRCm39) |
H150R |
probably benign |
Het |
Cebpzos |
T |
C |
17: 79,227,220 (GRCm39) |
Y65H |
probably benign |
Het |
Cgnl1 |
T |
A |
9: 71,624,683 (GRCm39) |
M630L |
probably benign |
Het |
Dop1b |
G |
T |
16: 93,549,802 (GRCm39) |
R247L |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,043,069 (GRCm39) |
|
probably null |
Het |
Etaa1 |
T |
C |
11: 17,896,174 (GRCm39) |
S648G |
probably benign |
Het |
Flnb |
A |
G |
14: 7,929,936 (GRCm38) |
D2022G |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,830,059 (GRCm39) |
N701K |
probably damaging |
Het |
H2-Eb2 |
C |
T |
17: 34,553,230 (GRCm39) |
H139Y |
probably benign |
Het |
Hbb-bh2 |
A |
T |
7: 103,488,455 (GRCm39) |
V114E |
probably damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,540 (GRCm39) |
Q28L |
probably benign |
Het |
Inca1 |
T |
C |
11: 70,579,566 (GRCm39) |
T188A |
probably benign |
Het |
Irf9 |
G |
T |
14: 55,846,496 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,214,369 (GRCm39) |
H238Q |
probably benign |
Het |
Lpin1 |
G |
C |
12: 16,588,537 (GRCm39) |
F851L |
probably damaging |
Het |
Mcm3ap |
C |
T |
10: 76,320,495 (GRCm39) |
Q818* |
probably null |
Het |
Mcm7 |
A |
T |
5: 138,164,173 (GRCm39) |
|
probably null |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nppa |
G |
T |
4: 148,085,544 (GRCm39) |
M50I |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,988,756 (GRCm39) |
N665K |
possibly damaging |
Het |
Plekhh3 |
G |
A |
11: 101,056,009 (GRCm39) |
A47V |
probably damaging |
Het |
Plekhh3 |
T |
A |
11: 101,058,764 (GRCm39) |
E156V |
probably null |
Het |
Prpf19 |
T |
C |
19: 10,876,323 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,697,456 (GRCm39) |
V651E |
possibly damaging |
Het |
Sgpl1 |
T |
C |
10: 60,948,044 (GRCm39) |
N171S |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slx4 |
T |
C |
16: 3,798,860 (GRCm39) |
|
probably null |
Het |
Smchd1 |
T |
A |
17: 71,665,234 (GRCm39) |
|
probably benign |
Het |
Snca |
A |
G |
6: 60,792,719 (GRCm39) |
V63A |
probably benign |
Het |
Taok3 |
A |
T |
5: 117,390,695 (GRCm39) |
Q92L |
probably damaging |
Het |
Uhrf1 |
T |
C |
17: 56,616,401 (GRCm39) |
V73A |
probably damaging |
Het |
Usp38 |
G |
A |
8: 81,708,606 (GRCm39) |
Q991* |
probably null |
Het |
Vmn2r96 |
T |
A |
17: 18,817,866 (GRCm39) |
V673E |
probably damaging |
Het |
Zan |
A |
G |
5: 137,436,710 (GRCm39) |
Y2048H |
unknown |
Het |
Zfp759 |
T |
A |
13: 67,287,354 (GRCm39) |
Y302N |
probably damaging |
Het |
|
Other mutations in Map3k9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00640:Map3k9
|
APN |
12 |
81,776,472 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01098:Map3k9
|
APN |
12 |
81,770,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01122:Map3k9
|
APN |
12 |
81,778,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01680:Map3k9
|
APN |
12 |
81,771,513 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01997:Map3k9
|
APN |
12 |
81,819,471 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02178:Map3k9
|
APN |
12 |
81,790,611 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Map3k9
|
APN |
12 |
81,771,516 (GRCm39) |
missense |
probably benign |
|
PIT4366001:Map3k9
|
UTSW |
12 |
81,819,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0530:Map3k9
|
UTSW |
12 |
81,769,256 (GRCm39) |
missense |
probably benign |
0.00 |
R0541:Map3k9
|
UTSW |
12 |
81,780,997 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0550:Map3k9
|
UTSW |
12 |
81,772,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R0799:Map3k9
|
UTSW |
12 |
81,769,043 (GRCm39) |
missense |
probably benign |
0.27 |
R1730:Map3k9
|
UTSW |
12 |
81,769,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R1783:Map3k9
|
UTSW |
12 |
81,769,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R1859:Map3k9
|
UTSW |
12 |
81,771,256 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1917:Map3k9
|
UTSW |
12 |
81,827,564 (GRCm39) |
nonsense |
probably null |
|
R3121:Map3k9
|
UTSW |
12 |
81,790,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R3779:Map3k9
|
UTSW |
12 |
81,790,565 (GRCm39) |
splice site |
probably benign |
|
R3931:Map3k9
|
UTSW |
12 |
81,819,691 (GRCm39) |
missense |
probably damaging |
0.99 |
R3951:Map3k9
|
UTSW |
12 |
81,769,295 (GRCm39) |
missense |
probably benign |
|
R4571:Map3k9
|
UTSW |
12 |
81,780,865 (GRCm39) |
missense |
probably benign |
0.25 |
R4728:Map3k9
|
UTSW |
12 |
81,769,147 (GRCm39) |
missense |
probably damaging |
0.96 |
R4857:Map3k9
|
UTSW |
12 |
81,771,401 (GRCm39) |
missense |
probably benign |
0.42 |
R5077:Map3k9
|
UTSW |
12 |
81,780,851 (GRCm39) |
splice site |
probably null |
|
R5369:Map3k9
|
UTSW |
12 |
81,768,826 (GRCm39) |
missense |
probably damaging |
0.98 |
R5418:Map3k9
|
UTSW |
12 |
81,790,591 (GRCm39) |
nonsense |
probably null |
|
R5540:Map3k9
|
UTSW |
12 |
81,819,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Map3k9
|
UTSW |
12 |
81,778,798 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5570:Map3k9
|
UTSW |
12 |
81,778,798 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5696:Map3k9
|
UTSW |
12 |
81,780,896 (GRCm39) |
missense |
probably benign |
0.00 |
R6539:Map3k9
|
UTSW |
12 |
81,778,966 (GRCm39) |
missense |
probably damaging |
0.98 |
R6542:Map3k9
|
UTSW |
12 |
81,769,028 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6816:Map3k9
|
UTSW |
12 |
81,769,028 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6964:Map3k9
|
UTSW |
12 |
81,819,777 (GRCm39) |
missense |
probably benign |
0.00 |
R7027:Map3k9
|
UTSW |
12 |
81,777,398 (GRCm39) |
missense |
probably benign |
0.06 |
R7055:Map3k9
|
UTSW |
12 |
81,770,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R7082:Map3k9
|
UTSW |
12 |
81,771,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:Map3k9
|
UTSW |
12 |
81,772,604 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7424:Map3k9
|
UTSW |
12 |
81,770,871 (GRCm39) |
missense |
probably benign |
0.00 |
R7476:Map3k9
|
UTSW |
12 |
81,790,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7638:Map3k9
|
UTSW |
12 |
81,771,506 (GRCm39) |
missense |
probably benign |
0.00 |
R8098:Map3k9
|
UTSW |
12 |
81,780,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R8249:Map3k9
|
UTSW |
12 |
81,827,551 (GRCm39) |
missense |
unknown |
|
R8356:Map3k9
|
UTSW |
12 |
81,780,892 (GRCm39) |
missense |
probably damaging |
0.98 |
R8397:Map3k9
|
UTSW |
12 |
81,769,136 (GRCm39) |
missense |
probably benign |
0.13 |
R8444:Map3k9
|
UTSW |
12 |
81,768,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R8456:Map3k9
|
UTSW |
12 |
81,780,892 (GRCm39) |
missense |
probably damaging |
0.98 |
R9025:Map3k9
|
UTSW |
12 |
81,819,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R9090:Map3k9
|
UTSW |
12 |
81,769,261 (GRCm39) |
missense |
probably benign |
0.05 |
R9097:Map3k9
|
UTSW |
12 |
81,819,855 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9271:Map3k9
|
UTSW |
12 |
81,769,261 (GRCm39) |
missense |
probably benign |
0.05 |
R9419:Map3k9
|
UTSW |
12 |
81,827,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9549:Map3k9
|
UTSW |
12 |
81,771,255 (GRCm39) |
missense |
probably benign |
0.06 |
R9596:Map3k9
|
UTSW |
12 |
81,777,404 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Map3k9
|
UTSW |
12 |
81,771,186 (GRCm39) |
missense |
possibly damaging |
0.58 |
Z1176:Map3k9
|
UTSW |
12 |
81,819,556 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1177:Map3k9
|
UTSW |
12 |
81,827,620 (GRCm39) |
missense |
unknown |
|
Z1177:Map3k9
|
UTSW |
12 |
81,769,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGGAGCTTATTCGAATCCAG -3'
(R):5'- ACAGTGATGAGATCGTGGTG -3'
Sequencing Primer
(F):5'- GCTTATTCGAATCCAGAAGTAAAAGG -3'
(R):5'- GTGTATGAAATGCCAGTCAGCCC -3'
|
Posted On |
2016-03-17 |