Incidental Mutation 'IGL01098:Map3k9'
| ID |
52448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81770928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 910
(S910P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035987]
[ENSMUST00000222322]
|
| AlphaFold |
Q3U1V8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035987
AA Change: S887P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: S887P
| 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: S910P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223292
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
| Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
| Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
| Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
| Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
| Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
| Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
| Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
| Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
| Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
| Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation