Incidental Mutation 'R4728:Map3k9'
ID |
358626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k9
|
Ensembl Gene |
ENSMUSG00000042724 |
Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
Synonyms |
Mlk1 |
MMRRC Submission |
042020-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4728 (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 81769147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 967
(R967Q)
|
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: R967Q
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041819 Gene: ENSMUSG00000042724 AA Change: R967Q
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 |
possibly damaging
Transcript: ENSMUST00000222322
AA Change: R990Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.0838 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
94% (73/78) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bicc1 |
C |
T |
10: 70,771,661 (GRCm39) |
|
probably null |
Het |
Bpifc |
T |
A |
10: 85,827,063 (GRCm39) |
H162L |
possibly damaging |
Het |
Ccdc163 |
C |
T |
4: 116,566,209 (GRCm39) |
|
probably benign |
Het |
Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
Cyth4 |
G |
A |
15: 78,486,913 (GRCm39) |
G14R |
probably benign |
Het |
Ddhd2 |
C |
T |
8: 26,242,294 (GRCm39) |
V194I |
probably damaging |
Het |
Ddx23 |
A |
T |
15: 98,548,106 (GRCm39) |
V433E |
probably damaging |
Het |
Defb34 |
A |
G |
8: 19,176,434 (GRCm39) |
N42D |
possibly damaging |
Het |
Dennd6a |
A |
G |
14: 26,348,575 (GRCm39) |
E313G |
probably null |
Het |
Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,658,589 (GRCm39) |
E864G |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,486,160 (GRCm39) |
Q451* |
probably null |
Het |
Fmo9 |
A |
T |
1: 166,490,880 (GRCm39) |
Y533N |
possibly damaging |
Het |
Fut8 |
T |
A |
12: 77,521,973 (GRCm39) |
D537E |
probably damaging |
Het |
Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
Gm9916 |
A |
G |
3: 118,228,690 (GRCm39) |
|
noncoding transcript |
Het |
Grm5 |
T |
A |
7: 87,624,496 (GRCm39) |
F354L |
probably damaging |
Het |
Hira |
C |
T |
16: 18,741,654 (GRCm39) |
A353V |
probably damaging |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,839,372 (GRCm39) |
L628P |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 75,054,555 (GRCm39) |
I463N |
probably damaging |
Het |
Kcnh8 |
C |
A |
17: 53,032,898 (GRCm39) |
Q62K |
probably damaging |
Het |
Kif3c |
A |
T |
12: 3,415,873 (GRCm39) |
|
probably benign |
Het |
Kmo |
A |
G |
1: 175,484,329 (GRCm39) |
D353G |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,606 (GRCm39) |
T2301A |
probably damaging |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,674,774 (GRCm39) |
H414R |
probably damaging |
Het |
Mier1 |
A |
G |
4: 102,997,402 (GRCm39) |
E145G |
probably damaging |
Het |
Mlc1 |
A |
T |
15: 88,862,234 (GRCm39) |
|
probably null |
Het |
Napb |
T |
C |
2: 148,551,245 (GRCm39) |
D96G |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,338,740 (GRCm39) |
S193R |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,174,515 (GRCm39) |
V967A |
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,989 (GRCm39) |
I492K |
probably benign |
Het |
Notch4 |
A |
G |
17: 34,789,179 (GRCm39) |
T497A |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Ogdh |
T |
A |
11: 6,292,549 (GRCm39) |
Y417N |
probably damaging |
Het |
Or5w19 |
T |
C |
2: 87,698,779 (GRCm39) |
V148A |
probably benign |
Het |
Ovol1 |
A |
T |
19: 5,603,690 (GRCm39) |
Y70* |
probably null |
Het |
P2ry1 |
A |
G |
3: 60,911,641 (GRCm39) |
Y260C |
probably damaging |
Het |
Pcx |
G |
T |
19: 4,653,124 (GRCm39) |
R263L |
probably damaging |
Het |
Pla2g4f |
T |
A |
2: 120,131,402 (GRCm39) |
T774S |
probably benign |
Het |
Prdm15 |
T |
G |
16: 97,622,986 (GRCm39) |
K289Q |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,960,268 (GRCm39) |
H91Q |
probably benign |
Het |
Prmt5 |
C |
T |
14: 54,745,364 (GRCm39) |
R601H |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,120,637 (GRCm39) |
D2192E |
probably damaging |
Het |
Ptdss2 |
A |
G |
7: 140,734,372 (GRCm39) |
I299V |
probably benign |
Het |
Rbm28 |
A |
G |
6: 29,143,591 (GRCm39) |
V354A |
probably damaging |
Het |
Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
Sema3f |
A |
G |
9: 107,582,639 (GRCm39) |
S35P |
probably benign |
Het |
Serpina3n |
A |
T |
12: 104,375,422 (GRCm39) |
T165S |
probably benign |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Sh2d4b |
T |
A |
14: 40,564,389 (GRCm39) |
R267* |
probably null |
Het |
Slc5a12 |
A |
T |
2: 110,474,769 (GRCm39) |
K554* |
probably null |
Het |
Snrnp200 |
T |
C |
2: 127,059,334 (GRCm39) |
L409P |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,069,798 (GRCm39) |
V981E |
possibly damaging |
Het |
Spon2 |
T |
A |
5: 33,374,682 (GRCm39) |
R41S |
probably benign |
Het |
Sptb |
A |
T |
12: 76,630,153 (GRCm39) |
M2279K |
probably benign |
Het |
Srcap |
T |
G |
7: 127,140,096 (GRCm39) |
|
probably null |
Het |
Tctn3 |
A |
G |
19: 40,594,186 (GRCm39) |
V409A |
probably damaging |
Het |
Tg |
A |
C |
15: 66,554,676 (GRCm39) |
Q697P |
probably damaging |
Het |
Tmem181a |
A |
G |
17: 6,340,874 (GRCm39) |
D141G |
probably benign |
Het |
Tmem82 |
A |
G |
4: 141,341,963 (GRCm39) |
S334P |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,151,190 (GRCm39) |
Y1875C |
probably damaging |
Het |
Vmn1r63 |
C |
A |
7: 5,806,362 (GRCm39) |
R90L |
probably damaging |
Het |
Zfp330 |
A |
C |
8: 83,497,475 (GRCm39) |
Y56D |
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 |
R4857:Map3k9
|
UTSW |
12 |
81,771,401 (GRCm39) |
missense |
probably benign |
0.42 |
R4882:Map3k9
|
UTSW |
12 |
81,770,936 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATCCAGGTCCAAAAGTGTCCG -3'
(R):5'- CCATTGTCTCTCTGACCAGG -3'
Sequencing Primer
(F):5'- CAGGTCCAAAAGTGTCCGTTCAG -3'
(R):5'- TCTCTGACCAGGCATGTTGAAAAC -3'
|
Posted On |
2015-11-11 |