Incidental Mutation 'R0541:Map3k9'
| ID |
49933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k9
|
| Ensembl Gene |
ENSMUSG00000042724 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
| Synonyms |
Mlk1 |
| MMRRC Submission |
038733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81780997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 388
(S388T)
|
| 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: S388T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: S388T
| 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 benign
Transcript: ENSMUST00000222322
AA Change: S388T
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223292
|
| Meta Mutation Damage Score |
0.1791 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (64/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
| 4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
| Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
| Arhgap20 |
G |
T |
9: 51,760,963 (GRCm39) |
S902I |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
| Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
| Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
| Dagla |
C |
A |
19: 10,232,170 (GRCm39) |
|
probably null |
Het |
| Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,747,471 (GRCm39) |
I238V |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
| Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
| Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
| Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
| Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
| Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
| Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
| Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
| Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,768,197 (GRCm39) |
|
probably null |
Het |
| Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
| Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
| Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 126,623,459 (GRCm39) |
D11E |
possibly damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
| Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
| Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
| Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
| Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
| Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
| Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
| Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
| Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
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 |
|
|
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 |
|
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'- TGTGGTGTGGACCATCAAGCAG -3'
(R):5'- GTACAGGGCAGTGTGTCTGACTTC -3'
Sequencing Primer
(F):5'- GTGAAGCATCCCTGCCAAG -3'
(R):5'- CATGGTGGATGGTATGCTTTCC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation