Incidental Mutation 'R7569:Map3k6'
| ID |
585628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k6
|
| Ensembl Gene |
ENSMUSG00000028862 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 6 |
| Synonyms |
Ask2, MAPKKK6, MEKK6 |
| MMRRC Submission |
045657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R7569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133240818-133252929 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133250077 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 912
(R912G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030674]
[ENSMUST00000030677]
[ENSMUST00000105908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030674
|
| SMART Domains |
Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
262 |
N/A |
INTRINSIC |
|
C2
|
288 |
389 |
2.36e-17 |
SMART |
|
C2
|
429 |
532 |
6.96e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030677
AA Change: R912G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: R912G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:DUF4071
|
130 |
508 |
2.3e-150 |
PFAM |
|
S_TKc
|
649 |
907 |
3.49e-87 |
SMART |
|
low complexity region
|
925 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1130 |
1146 |
N/A |
INTRINSIC |
|
coiled coil region
|
1164 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105908
|
| SMART Domains |
Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
250 |
N/A |
INTRINSIC |
|
C2
|
276 |
359 |
3.15e-4 |
SMART |
|
C2
|
364 |
467 |
6.96e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
A |
T |
15: 40,144,948 (GRCm38) |
T73S |
unknown |
Het |
| Acvrl1 |
A |
G |
15: 101,135,755 (GRCm38) |
Q106R |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,431,252 (GRCm38) |
D329E |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 65,982,905 (GRCm38) |
D1844E |
probably damaging |
Het |
| Ankub1 |
G |
A |
3: 57,665,618 (GRCm38) |
R228* |
probably null |
Het |
| Apol6 |
A |
C |
15: 77,050,698 (GRCm38) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,679,506 (GRCm38) |
V618M |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,414,048 (GRCm38) |
T113A |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,217,405 (GRCm38) |
H769L |
probably benign |
Het |
| Bcl11a |
G |
T |
11: 24,085,458 (GRCm38) |
E65* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,598,082 (GRCm38) |
R1290L |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,789,581 (GRCm38) |
E465G |
probably benign |
Het |
| Cav2 |
T |
A |
6: 17,282,079 (GRCm38) |
I112N |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 120,066,713 (GRCm38) |
A848V |
probably damaging |
Het |
| Col8a1 |
T |
A |
16: 57,627,192 (GRCm38) |
I652F |
unknown |
Het |
| Cul4a |
A |
G |
8: 13,123,493 (GRCm38) |
N180S |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 109,560,695 (GRCm38) |
S214P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,415,987 (GRCm38) |
V1197A |
possibly damaging |
Het |
| Dynlt1f |
A |
G |
17: 6,655,782 (GRCm38) |
S7P |
not run |
Het |
| Eef1ece2 |
T |
A |
16: 20,642,487 (GRCm38) |
Y641* |
probably null |
Het |
| Epha1 |
T |
A |
6: 42,365,422 (GRCm38) |
T331S |
possibly damaging |
Het |
| Hus1b |
A |
G |
13: 30,946,864 (GRCm38) |
Y271H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,569,553 (GRCm38) |
V2610A |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,265,050 (GRCm38) |
L651P |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,462,756 (GRCm38) |
Y361C |
probably damaging |
Het |
| Map1s |
T |
C |
8: 70,913,498 (GRCm38) |
V349A |
probably benign |
Het |
| Mtarc2 |
A |
T |
1: 184,841,425 (GRCm38) |
F92Y |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,850,434 (GRCm38) |
H459Q |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,109,043 (GRCm38) |
M817V |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,313,730 (GRCm38) |
R345G |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,316,281 (GRCm38) |
A18T |
possibly damaging |
Het |
| Or4d6 |
T |
C |
19: 12,109,021 (GRCm38) |
D175G |
possibly damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,414,135 (GRCm38) |
V248A |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,466,110 (GRCm38) |
|
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,188,540 (GRCm38) |
F296S |
possibly damaging |
Het |
| Pramel51 |
A |
T |
12: 88,176,315 (GRCm38) |
Y373N |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,904,518 (GRCm38) |
F19L |
probably benign |
Het |
| Robo2 |
T |
A |
16: 74,035,115 (GRCm38) |
T226S |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,140,194 (GRCm38) |
N132K |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,284,840 (GRCm38) |
L379Q |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,657,972 (GRCm38) |
I323V |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 105,945,847 (GRCm38) |
I814T |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,284,152 (GRCm38) |
G352R |
probably damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,309,827 (GRCm38) |
T357A |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,052,711 (GRCm38) |
D94E |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,025,876 (GRCm38) |
Y1018H |
probably benign |
Het |
| Srebf1 |
G |
T |
11: 60,200,121 (GRCm38) |
T1069K |
possibly damaging |
Het |
| St3gal3 |
A |
G |
4: 117,964,356 (GRCm38) |
V123A |
probably benign |
Het |
| Stradb |
A |
G |
1: 58,991,151 (GRCm38) |
Y188C |
unknown |
Het |
| Styxl2 |
T |
C |
1: 166,108,035 (GRCm38) |
D198G |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,779,505 (GRCm38) |
F186L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,927,390 (GRCm38) |
T1120A |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,555,614 (GRCm38) |
S430T |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 121,006,930 (GRCm38) |
I573L |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,488,124 (GRCm38) |
S7P |
probably benign |
Het |
| U2af1l4 |
A |
T |
7: 30,563,557 (GRCm38) |
I24F |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,391,665 (GRCm38) |
I840N |
probably damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,952,336 (GRCm38) |
I698S |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,223,659 (GRCm38) |
P12L |
possibly damaging |
Het |
| Zfp507 |
T |
A |
7: 35,794,544 (GRCm38) |
E358V |
probably damaging |
Het |
|
| Other mutations in Map3k6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Map3k6
|
APN |
4 |
133,243,044 (GRCm38) |
splice site |
probably benign |
|
|
IGL01060:Map3k6
|
APN |
4 |
133,247,302 (GRCm38) |
splice site |
probably null |
|
|
IGL01116:Map3k6
|
APN |
4 |
133,247,128 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01341:Map3k6
|
APN |
4 |
133,248,060 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02383:Map3k6
|
APN |
4 |
133,246,621 (GRCm38) |
splice site |
probably null |
|
|
IGL03090:Map3k6
|
APN |
4 |
133,243,366 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03096:Map3k6
|
APN |
4 |
133,251,345 (GRCm38) |
nonsense |
probably null |
|
|
IGL03149:Map3k6
|
APN |
4 |
133,249,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Map3k6
|
UTSW |
4 |
133,243,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0142:Map3k6
|
UTSW |
4 |
133,250,946 (GRCm38) |
missense |
probably benign |
|
|
R0189:Map3k6
|
UTSW |
4 |
133,246,941 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0368:Map3k6
|
UTSW |
4 |
133,252,659 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0417:Map3k6
|
UTSW |
4 |
133,248,082 (GRCm38) |
nonsense |
probably null |
|
|
R0595:Map3k6
|
UTSW |
4 |
133,241,263 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0597:Map3k6
|
UTSW |
4 |
133,245,552 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0699:Map3k6
|
UTSW |
4 |
133,248,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Map3k6
|
UTSW |
4 |
133,247,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1113:Map3k6
|
UTSW |
4 |
133,245,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1308:Map3k6
|
UTSW |
4 |
133,245,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1607:Map3k6
|
UTSW |
4 |
133,252,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2217:Map3k6
|
UTSW |
4 |
133,246,672 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3734:Map3k6
|
UTSW |
4 |
133,248,396 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3735:Map3k6
|
UTSW |
4 |
133,246,372 (GRCm38) |
missense |
probably benign |
0.21 |
|
R3743:Map3k6
|
UTSW |
4 |
133,245,073 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4244:Map3k6
|
UTSW |
4 |
133,251,947 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4245:Map3k6
|
UTSW |
4 |
133,251,947 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4465:Map3k6
|
UTSW |
4 |
133,246,333 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4482:Map3k6
|
UTSW |
4 |
133,243,399 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4827:Map3k6
|
UTSW |
4 |
133,248,849 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5092:Map3k6
|
UTSW |
4 |
133,251,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5110:Map3k6
|
UTSW |
4 |
133,247,548 (GRCm38) |
intron |
probably benign |
|
|
R5258:Map3k6
|
UTSW |
4 |
133,247,642 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5369:Map3k6
|
UTSW |
4 |
133,247,681 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5642:Map3k6
|
UTSW |
4 |
133,245,544 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5648:Map3k6
|
UTSW |
4 |
133,243,335 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6102:Map3k6
|
UTSW |
4 |
133,247,131 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6144:Map3k6
|
UTSW |
4 |
133,245,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6476:Map3k6
|
UTSW |
4 |
133,250,086 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6511:Map3k6
|
UTSW |
4 |
133,248,078 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6522:Map3k6
|
UTSW |
4 |
133,250,024 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6706:Map3k6
|
UTSW |
4 |
133,250,939 (GRCm38) |
nonsense |
probably null |
|
|
R6874:Map3k6
|
UTSW |
4 |
133,250,656 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7069:Map3k6
|
UTSW |
4 |
133,251,712 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7216:Map3k6
|
UTSW |
4 |
133,246,900 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7417:Map3k6
|
UTSW |
4 |
133,248,396 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7538:Map3k6
|
UTSW |
4 |
133,251,927 (GRCm38) |
missense |
probably benign |
|
|
R8003:Map3k6
|
UTSW |
4 |
133,248,882 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8407:Map3k6
|
UTSW |
4 |
133,247,593 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8817:Map3k6
|
UTSW |
4 |
133,246,760 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8939:Map3k6
|
UTSW |
4 |
133,252,643 (GRCm38) |
unclassified |
probably benign |
|
|
R9285:Map3k6
|
UTSW |
4 |
133,245,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9308:Map3k6
|
UTSW |
4 |
133,243,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9400:Map3k6
|
UTSW |
4 |
133,241,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9401:Map3k6
|
UTSW |
4 |
133,241,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Map3k6
|
UTSW |
4 |
133,252,463 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9677:Map3k6
|
UTSW |
4 |
133,241,116 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9682:Map3k6
|
UTSW |
4 |
133,248,108 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9745:Map3k6
|
UTSW |
4 |
133,252,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9751:Map3k6
|
UTSW |
4 |
133,251,857 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1088:Map3k6
|
UTSW |
4 |
133,245,066 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCACCTCTGATCTGATCG -3'
(R):5'- GCCTTGGGAATGTCTGAGAC -3'
Sequencing Primer
(F):5'- GATCGTGGGGTTATCTATCCCATC -3'
(R):5'- AATGTCTGAGACTGTGTGGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation