Incidental Mutation 'R9751:Map3k6'
| ID |
732506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k6
|
| Ensembl Gene |
ENSMUSG00000028862 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 6 |
| Synonyms |
Ask2, MEKK6, MAPKKK6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R9751 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 132979168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000030677
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,881,126 (GRCm39) |
N514D |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,757,101 (GRCm39) |
R786H |
probably null |
Het |
| Ankrd7 |
G |
A |
6: 18,868,024 (GRCm39) |
V97I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,889 (GRCm39) |
I54M |
|
Het |
| Bmper |
C |
T |
9: 23,318,009 (GRCm39) |
P543S |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,795,015 (GRCm39) |
M2233K |
possibly damaging |
Het |
| C1s2 |
G |
T |
6: 124,602,553 (GRCm39) |
P553T |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,823,438 (GRCm39) |
V497I |
possibly damaging |
Het |
| Cacng4 |
A |
G |
11: 107,626,019 (GRCm39) |
S191P |
probably damaging |
Het |
| Cd109 |
C |
A |
9: 78,605,442 (GRCm39) |
T1015K |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,339,703 (GRCm39) |
L756P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,377,887 (GRCm39) |
D1122E |
possibly damaging |
Het |
| Csf2 |
A |
T |
11: 54,140,420 (GRCm39) |
L6* |
probably null |
Het |
| Csnk1g2 |
T |
A |
10: 80,473,745 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 90,564,731 (GRCm39) |
H116N |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,619,610 (GRCm39) |
S3978L |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,960,453 (GRCm39) |
T328I |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,205,403 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,783,911 (GRCm39) |
G2754E |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,538 (GRCm39) |
V26F |
probably damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,526 (GRCm39) |
N11S |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,565,992 (GRCm39) |
Y414F |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,818,241 (GRCm39) |
I4658T |
probably benign |
Het |
| Hycc1 |
C |
T |
5: 24,196,748 (GRCm39) |
E47K |
probably benign |
Het |
| Igflr1 |
A |
T |
7: 30,266,653 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Mcpt4 |
A |
G |
14: 56,297,511 (GRCm39) |
I215T |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,189,984 (GRCm39) |
Y975C |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,419 (GRCm39) |
Y678* |
probably null |
Het |
| Myof |
T |
C |
19: 37,924,818 (GRCm39) |
T1190A |
probably benign |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,195 (GRCm39) |
V796A |
probably damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,956 (GRCm39) |
T262I |
probably benign |
Het |
| Or4c119 |
C |
T |
2: 88,986,782 (GRCm39) |
V246M |
possibly damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,614 (GRCm39) |
I250L |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,260 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,945,645 (GRCm39) |
Y181C |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,824,188 (GRCm39) |
S515P |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,165,436 (GRCm39) |
V257A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,717,414 (GRCm39) |
S1401F |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,777,964 (GRCm39) |
K1043E |
probably benign |
Het |
| Rtn4rl2 |
T |
G |
2: 84,711,039 (GRCm39) |
N75T |
probably damaging |
Het |
| Slc35f4 |
A |
G |
14: 49,536,291 (GRCm39) |
I448T |
possibly damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,918 (GRCm39) |
I11T |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,680 (GRCm39) |
V351A |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,971,570 (GRCm39) |
D195E |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,021,564 (GRCm39) |
A90S |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,765 (GRCm39) |
V1100I |
possibly damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
| Ube2g2 |
G |
A |
10: 77,480,307 (GRCm39) |
V138I |
probably benign |
Het |
|
| Other mutations in Map3k6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Map3k6
|
APN |
4 |
132,970,355 (GRCm39) |
splice site |
probably benign |
|
|
IGL01060:Map3k6
|
APN |
4 |
132,974,613 (GRCm39) |
splice site |
probably null |
|
|
IGL01116:Map3k6
|
APN |
4 |
132,974,439 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01341:Map3k6
|
APN |
4 |
132,975,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02383:Map3k6
|
APN |
4 |
132,973,932 (GRCm39) |
splice site |
probably null |
|
|
IGL03090:Map3k6
|
APN |
4 |
132,970,677 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03096:Map3k6
|
APN |
4 |
132,978,656 (GRCm39) |
nonsense |
probably null |
|
|
IGL03149:Map3k6
|
APN |
4 |
132,976,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Map3k6
|
UTSW |
4 |
132,971,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Map3k6
|
UTSW |
4 |
132,978,257 (GRCm39) |
missense |
probably benign |
|
|
R0189:Map3k6
|
UTSW |
4 |
132,974,252 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0368:Map3k6
|
UTSW |
4 |
132,979,970 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0417:Map3k6
|
UTSW |
4 |
132,975,393 (GRCm39) |
nonsense |
probably null |
|
|
R0595:Map3k6
|
UTSW |
4 |
132,968,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0597:Map3k6
|
UTSW |
4 |
132,972,863 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0699:Map3k6
|
UTSW |
4 |
132,975,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Map3k6
|
UTSW |
4 |
132,974,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1113:Map3k6
|
UTSW |
4 |
132,973,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:Map3k6
|
UTSW |
4 |
132,973,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Map3k6
|
UTSW |
4 |
132,979,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Map3k6
|
UTSW |
4 |
132,973,983 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3734:Map3k6
|
UTSW |
4 |
132,975,707 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3735:Map3k6
|
UTSW |
4 |
132,973,683 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3743:Map3k6
|
UTSW |
4 |
132,972,384 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4244:Map3k6
|
UTSW |
4 |
132,979,258 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4245:Map3k6
|
UTSW |
4 |
132,979,258 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4465:Map3k6
|
UTSW |
4 |
132,973,644 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4482:Map3k6
|
UTSW |
4 |
132,970,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4827:Map3k6
|
UTSW |
4 |
132,976,160 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5092:Map3k6
|
UTSW |
4 |
132,979,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5110:Map3k6
|
UTSW |
4 |
132,974,859 (GRCm39) |
intron |
probably benign |
|
|
R5258:Map3k6
|
UTSW |
4 |
132,974,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5369:Map3k6
|
UTSW |
4 |
132,974,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5642:Map3k6
|
UTSW |
4 |
132,972,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5648:Map3k6
|
UTSW |
4 |
132,970,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6102:Map3k6
|
UTSW |
4 |
132,974,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6144:Map3k6
|
UTSW |
4 |
132,972,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Map3k6
|
UTSW |
4 |
132,977,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6511:Map3k6
|
UTSW |
4 |
132,975,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6522:Map3k6
|
UTSW |
4 |
132,977,335 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6706:Map3k6
|
UTSW |
4 |
132,978,250 (GRCm39) |
nonsense |
probably null |
|
|
R6874:Map3k6
|
UTSW |
4 |
132,977,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7069:Map3k6
|
UTSW |
4 |
132,979,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7216:Map3k6
|
UTSW |
4 |
132,974,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7417:Map3k6
|
UTSW |
4 |
132,975,707 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7538:Map3k6
|
UTSW |
4 |
132,979,238 (GRCm39) |
missense |
probably benign |
|
|
R7569:Map3k6
|
UTSW |
4 |
132,977,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8003:Map3k6
|
UTSW |
4 |
132,976,193 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8407:Map3k6
|
UTSW |
4 |
132,974,904 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8817:Map3k6
|
UTSW |
4 |
132,974,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Map3k6
|
UTSW |
4 |
132,979,954 (GRCm39) |
unclassified |
probably benign |
|
|
R9285:Map3k6
|
UTSW |
4 |
132,972,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Map3k6
|
UTSW |
4 |
132,970,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:Map3k6
|
UTSW |
4 |
132,968,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Map3k6
|
UTSW |
4 |
132,968,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Map3k6
|
UTSW |
4 |
132,979,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9677:Map3k6
|
UTSW |
4 |
132,968,427 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9682:Map3k6
|
UTSW |
4 |
132,975,419 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9745:Map3k6
|
UTSW |
4 |
132,979,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Map3k6
|
UTSW |
4 |
132,972,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTTACCGAGGTCAGAAGAG -3'
(R):5'- GCAAAGGTGTTCTCTGTGGC -3'
Sequencing Primer
(F):5'- CTTACCGAGGTCAGAAGAGTCGAG -3'
(R):5'- CAAAGGTGTTCTCTGTGGCCTTAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation