Incidental Mutation 'R3951:Map3k9'
ID |
307958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k9
|
Ensembl Gene |
ENSMUSG00000042724 |
Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
Synonyms |
Mlk1 |
MMRRC Submission |
040828-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81769295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 941
(M941V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035987]
[ENSMUST00000222322]
|
AlphaFold |
Q3U1V8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035987
AA Change: M918V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041819 Gene: ENSMUSG00000042724 AA Change: M918V
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 benign
Transcript: ENSMUST00000222322
AA Change: M941V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (55/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
probably benign |
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 |
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'- ATGGCTGGGAGACACAAACC -3'
(R):5'- TACTATTACTTCACCCAAGGCC -3'
Sequencing Primer
(F):5'- ACCACCAAGGGTCCAGTCG -3'
(R):5'- TCACCCAAGGCCACTTTG -3'
|
Posted On |
2015-04-17 |