Incidental Mutation 'PIT4366001:Map3k9'
ID |
554781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k9
|
Ensembl Gene |
ENSMUSG00000042724 |
Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
Synonyms |
Mlk1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4366001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81819535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 240
(V240M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035987]
[ENSMUST00000222322]
|
AlphaFold |
Q3U1V8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035987
AA Change: V240M
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041819 Gene: ENSMUSG00000042724 AA Change: V240M
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 |
probably damaging
Transcript: ENSMUST00000222322
AA Change: V240M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
A |
11: 119,901,786 (GRCm39) |
S870I |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,244,962 (GRCm39) |
V2275A |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,899,833 (GRCm39) |
K278R |
probably damaging |
Het |
Adcy2 |
TA |
TAA |
13: 68,858,109 (GRCm39) |
|
probably benign |
Het |
Add3 |
C |
T |
19: 53,205,298 (GRCm39) |
P16L |
unknown |
Het |
Akap9 |
T |
A |
5: 4,096,221 (GRCm39) |
D2365E |
probably benign |
Het |
Asah1 |
A |
G |
8: 41,796,783 (GRCm39) |
S300P |
possibly damaging |
Het |
Astn1 |
A |
T |
1: 158,424,779 (GRCm39) |
H655L |
probably benign |
Het |
Astn1 |
A |
T |
1: 158,424,781 (GRCm39) |
I656F |
probably benign |
Het |
Bmpr1b |
T |
A |
3: 141,586,224 (GRCm39) |
T13S |
probably benign |
Het |
Camsap2 |
A |
G |
1: 136,208,055 (GRCm39) |
F478L |
|
Het |
Card10 |
G |
A |
15: 78,671,631 (GRCm39) |
S611L |
probably benign |
Het |
Cep68 |
T |
C |
11: 20,190,007 (GRCm39) |
N335S |
probably benign |
Het |
Chac1 |
T |
C |
2: 119,181,986 (GRCm39) |
W35R |
probably damaging |
Het |
Cntn6 |
T |
C |
6: 104,809,498 (GRCm39) |
V511A |
probably benign |
Het |
Cpne9 |
G |
T |
6: 113,271,707 (GRCm39) |
G356W |
probably damaging |
Het |
Dnah10 |
C |
A |
5: 124,852,588 (GRCm39) |
T1939K |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,573,438 (GRCm39) |
N239D |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,062,123 (GRCm39) |
K415R |
possibly damaging |
Het |
Dtd2 |
C |
A |
12: 52,046,582 (GRCm39) |
D86Y |
probably damaging |
Het |
Efcab9 |
A |
G |
11: 32,473,608 (GRCm39) |
F127S |
probably damaging |
Het |
Ermp1 |
T |
C |
19: 29,606,189 (GRCm39) |
H375R |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,560,622 (GRCm39) |
M1295K |
probably damaging |
Het |
Gbp7 |
T |
G |
3: 142,248,712 (GRCm39) |
I325R |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,227,677 (GRCm39) |
K1493E |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,226,214 (GRCm39) |
E234V |
probably null |
Het |
Itpr1 |
T |
A |
6: 108,470,718 (GRCm39) |
C2215* |
probably null |
Het |
Ltn1 |
G |
A |
16: 87,177,728 (GRCm39) |
R1634* |
probably null |
Het |
Lynx1 |
A |
T |
15: 74,623,258 (GRCm39) |
M58K |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,410,684 (GRCm39) |
V484A |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,135,267 (GRCm39) |
M608T |
possibly damaging |
Het |
Mc2r |
T |
C |
18: 68,540,826 (GRCm39) |
M156V |
probably benign |
Het |
Mchr1 |
G |
T |
15: 81,121,417 (GRCm39) |
V56L |
probably benign |
Het |
Mlxip |
C |
T |
5: 123,533,173 (GRCm39) |
P61S |
probably benign |
Het |
Mtarc1 |
A |
G |
1: 184,539,383 (GRCm39) |
F96S |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,575,542 (GRCm39) |
T1557A |
unknown |
Het |
Myt1 |
T |
C |
2: 181,467,731 (GRCm39) |
V1135A |
probably damaging |
Het |
Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm39) |
S76T |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,208,149 (GRCm39) |
Y665C |
probably damaging |
Het |
Oaz3 |
T |
G |
3: 94,340,901 (GRCm39) |
R215S |
unknown |
Het |
Or10x1 |
T |
C |
1: 174,196,656 (GRCm39) |
Y58H |
probably damaging |
Het |
Or5m10b |
T |
C |
2: 85,699,226 (GRCm39) |
C97R |
probably damaging |
Het |
Or5m8 |
A |
T |
2: 85,822,385 (GRCm39) |
N75Y |
probably damaging |
Het |
Or5w1b |
C |
T |
2: 87,475,534 (GRCm39) |
W311* |
probably null |
Het |
Perm1 |
G |
T |
4: 156,303,192 (GRCm39) |
V579L |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,788 (GRCm39) |
V140A |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,842 (GRCm39) |
S228T |
probably damaging |
Het |
Plekhn1 |
T |
G |
4: 156,309,268 (GRCm39) |
T213P |
probably damaging |
Het |
Pomt2 |
A |
T |
12: 87,163,303 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
A |
G |
5: 145,088,145 (GRCm39) |
V622A |
probably benign |
Het |
Ptn |
T |
A |
6: 36,718,284 (GRCm39) |
H127L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,462,015 (GRCm39) |
M1193L |
probably benign |
Het |
Ptpru |
G |
A |
4: 131,527,023 (GRCm39) |
P650S |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,783,390 (GRCm39) |
L613Q |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,582,446 (GRCm39) |
T1458A |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,810,462 (GRCm39) |
A470V |
probably benign |
Het |
Sertad2 |
C |
A |
11: 20,598,116 (GRCm39) |
P104Q |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,814,414 (GRCm39) |
M324L |
unknown |
Het |
Sh3bp4 |
A |
G |
1: 89,073,156 (GRCm39) |
N668S |
probably benign |
Het |
Snx30 |
C |
A |
4: 59,894,653 (GRCm39) |
D410E |
probably benign |
Het |
Spata31 |
C |
A |
13: 65,069,319 (GRCm39) |
S489* |
probably null |
Het |
Taok3 |
T |
A |
5: 117,366,050 (GRCm39) |
M367K |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,850 (GRCm39) |
N254D |
possibly damaging |
Het |
Tgtp1 |
T |
G |
11: 48,877,867 (GRCm39) |
L279F |
possibly damaging |
Het |
Tmpo |
A |
G |
10: 90,999,172 (GRCm39) |
F205S |
probably damaging |
Het |
Tmprss5 |
A |
T |
9: 49,023,517 (GRCm39) |
I218L |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,641,224 (GRCm39) |
E116G |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,205 (GRCm39) |
N402K |
possibly 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 |
|
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 |
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'- TCGCCACTCAACAATGGTC -3'
(R):5'- AGACCATAGAGAACGTTCGCC -3'
Sequencing Primer
(F):5'- ATTGATGCAAGGCTCCACCG -3'
(R):5'- CAAGAGGCCAAGCTCTTTGC -3'
|
Posted On |
2019-06-07 |