Incidental Mutation 'R8397:Map3k9'
| ID |
647680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k9
|
| Ensembl Gene |
ENSMUSG00000042724 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 9 |
| Synonyms |
Mlk1 |
| MMRRC Submission |
067760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81767784-81827949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81769136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 971
(S971P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035987]
[ENSMUST00000222322]
|
| AlphaFold |
Q3U1V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035987
AA Change: S971P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: S971P
| 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: S994P
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,767,141 (GRCm39) |
T499A |
probably benign |
Het |
| Ahsa1 |
G |
T |
12: 87,320,451 (GRCm39) |
E311* |
probably null |
Het |
| Apol9a |
C |
T |
15: 77,288,813 (GRCm39) |
V185I |
probably benign |
Het |
| Arhgap27 |
T |
A |
11: 103,224,073 (GRCm39) |
D580V |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,978,440 (GRCm39) |
S298A |
possibly damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,756,989 (GRCm39) |
T481S |
probably benign |
Het |
| Cct8 |
G |
A |
16: 87,290,651 (GRCm39) |
R59C |
possibly damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,801 (GRCm39) |
G501E |
possibly damaging |
Het |
| Chka |
G |
A |
19: 3,902,414 (GRCm39) |
|
probably null |
Het |
| Cit |
C |
A |
5: 116,024,856 (GRCm39) |
N366K |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,796,391 (GRCm39) |
M806L |
probably benign |
Het |
| Dhx9 |
T |
A |
1: 153,344,657 (GRCm39) |
H510L |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,209,966 (GRCm39) |
V305I |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,790,985 (GRCm39) |
C42S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,561,715 (GRCm39) |
M160V |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,562 (GRCm39) |
V1315A |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,231,464 (GRCm39) |
N374I |
possibly damaging |
Het |
| Gm11992 |
T |
G |
11: 9,011,305 (GRCm39) |
S249A |
probably damaging |
Het |
| Gm14418 |
T |
A |
2: 177,079,086 (GRCm39) |
Q303L |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,397,957 (GRCm39) |
P295Q |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,018,579 (GRCm39) |
N954D |
probably benign |
Het |
| Klf15 |
C |
T |
6: 90,443,778 (GRCm39) |
H118Y |
probably damaging |
Het |
| Lrit2 |
G |
T |
14: 36,791,034 (GRCm39) |
A238S |
probably damaging |
Het |
| Man2c1 |
A |
C |
9: 57,042,783 (GRCm39) |
M218L |
probably benign |
Het |
| Map3k1 |
T |
A |
13: 111,892,138 (GRCm39) |
H1039L |
probably damaging |
Het |
| Map4k3 |
C |
T |
17: 80,971,446 (GRCm39) |
V74I |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,136,368 (GRCm39) |
S486T |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,371,887 (GRCm39) |
S327R |
possibly damaging |
Het |
| Mkks |
G |
A |
2: 136,722,923 (GRCm39) |
T78M |
possibly damaging |
Het |
| Mst1 |
C |
T |
9: 107,958,698 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
G |
T |
11: 67,112,465 (GRCm39) |
A1811S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,241,113 (GRCm39) |
H830R |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,505 (GRCm39) |
D443G |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,438,518 (GRCm39) |
L137P |
probably damaging |
Het |
| Nipsnap3b |
T |
C |
4: 53,012,049 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
G |
T |
1: 170,155,194 (GRCm39) |
P220T |
unknown |
Het |
| Nrxn3 |
T |
A |
12: 90,298,583 (GRCm39) |
I368N |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,649,156 (GRCm39) |
Q562L |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,880,266 (GRCm39) |
L342Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,163,232 (GRCm39) |
S264P |
probably damaging |
Het |
| Or11g24 |
G |
T |
14: 50,662,137 (GRCm39) |
D54Y |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,395,927 (GRCm39) |
S567P |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,955,754 (GRCm39) |
S261A |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,126,865 (GRCm39) |
P315S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,616 (GRCm39) |
H827Q |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,719,045 (GRCm39) |
L615F |
probably damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,492,768 (GRCm39) |
H236L |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,439,675 (GRCm39) |
G384E |
probably benign |
Het |
| Rmnd1 |
C |
A |
10: 4,377,278 (GRCm39) |
E134* |
probably null |
Het |
| Rusc2 |
T |
A |
4: 43,424,206 (GRCm39) |
H1090Q |
possibly damaging |
Het |
| Sema5b |
A |
C |
16: 35,471,691 (GRCm39) |
Y428S |
possibly damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,866,010 (GRCm39) |
I301L |
probably benign |
Het |
| Slc38a11 |
C |
T |
2: 65,160,635 (GRCm39) |
V320M |
probably damaging |
Het |
| Slc4a5 |
G |
T |
6: 83,266,308 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
T |
C |
8: 106,920,165 (GRCm39) |
I320T |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,246,542 (GRCm39) |
I837T |
probably benign |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Tlr3 |
A |
T |
8: 45,851,896 (GRCm39) |
F334I |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,217,290 (GRCm39) |
I530V |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,722 (GRCm39) |
D64G |
possibly damaging |
Het |
| Zfp157 |
T |
A |
5: 138,454,518 (GRCm39) |
Y239N |
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 |
|
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 |
|
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'- GCATCCAGGTCCAAAAGTGTCC -3'
(R):5'- TTGTCTCTCTGACCAGGCATG -3'
Sequencing Primer
(F):5'- CAGGTCCAAAAGTGTCCGTTCAG -3'
(R):5'- TCTCTGACCAGGCATGTTGAAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation