Incidental Mutation 'IGL03087:Map3k1'
| ID |
418174 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
IGL03087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111885559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1453
(S1453P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109267
AA Change: S1453P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: S1453P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
256 |
N/A |
INTRINSIC |
|
Pfam:SWIM
|
333 |
361 |
3.1e-7 |
PFAM |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
RING
|
438 |
486 |
2.69e-1 |
SMART |
|
low complexity region
|
512 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
967 |
978 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1178 |
N/A |
INTRINSIC |
|
S_TKc
|
1224 |
1489 |
9.58e-85 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175936
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
T |
5: 25,202,630 (GRCm39) |
|
probably benign |
Het |
| Acbd5 |
A |
G |
2: 22,979,722 (GRCm39) |
T261A |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,340,493 (GRCm39) |
T331I |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,173,066 (GRCm39) |
T150A |
probably benign |
Het |
| Arid4a |
G |
T |
12: 71,122,019 (GRCm39) |
R478L |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,106,289 (GRCm39) |
D446G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,958,182 (GRCm39) |
L1087P |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,624,390 (GRCm39) |
L279P |
possibly damaging |
Het |
| Bphl |
A |
T |
13: 34,257,694 (GRCm39) |
H275L |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,042 (GRCm39) |
I120V |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,003,118 (GRCm39) |
V3606I |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,017,081 (GRCm39) |
N696S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,951,248 (GRCm39) |
H420R |
possibly damaging |
Het |
| Enpp1 |
T |
A |
10: 24,531,779 (GRCm39) |
|
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,974,019 (GRCm39) |
|
probably null |
Het |
| Glt8d1 |
T |
A |
14: 30,732,053 (GRCm39) |
F155I |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,785,980 (GRCm39) |
H598Q |
possibly damaging |
Het |
| Hnrnpdl |
T |
A |
5: 100,185,460 (GRCm39) |
E149D |
probably damaging |
Het |
| Ifngr2 |
G |
T |
16: 91,359,892 (GRCm39) |
*333L |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,715,414 (GRCm39) |
S486P |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,318,310 (GRCm39) |
I150T |
probably benign |
Het |
| Jag2 |
G |
A |
12: 112,877,568 (GRCm39) |
L670F |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,652 (GRCm39) |
I280N |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,148,462 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
G |
1: 128,228,112 (GRCm39) |
L1127P |
possibly damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,692,705 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,641 (GRCm39) |
I437N |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,170 (GRCm39) |
M482V |
possibly damaging |
Het |
| Mical1 |
T |
C |
10: 41,358,686 (GRCm39) |
S535P |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,798 (GRCm39) |
F765L |
probably damaging |
Het |
| Nat8f6 |
A |
T |
6: 85,785,499 (GRCm39) |
Y217N |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,486,280 (GRCm39) |
|
probably benign |
Het |
| Neurod6 |
A |
T |
6: 55,655,760 (GRCm39) |
C292* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,005 (GRCm39) |
I173F |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,015 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,356 (GRCm39) |
S75T |
possibly damaging |
Het |
| Or6c76 |
A |
T |
10: 129,612,130 (GRCm39) |
M116L |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,380 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,735 (GRCm39) |
N572D |
probably damaging |
Het |
| Pfpl |
A |
G |
19: 12,406,241 (GRCm39) |
N164S |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,892,075 (GRCm39) |
R264G |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,458,923 (GRCm39) |
F10I |
probably benign |
Het |
| Rag2 |
G |
A |
2: 101,460,559 (GRCm39) |
V290I |
probably benign |
Het |
| Rhot2 |
G |
A |
17: 26,060,115 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,603,908 (GRCm39) |
Y238C |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,488,830 (GRCm39) |
A495D |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,476,071 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,067,992 (GRCm39) |
A18S |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,033 (GRCm39) |
T234A |
probably benign |
Het |
| Slc44a2 |
C |
T |
9: 21,258,061 (GRCm39) |
T435I |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,218,660 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,389 (GRCm39) |
V199A |
possibly damaging |
Het |
| Trap1 |
G |
T |
16: 3,862,565 (GRCm39) |
|
probably null |
Het |
| Trmt1 |
A |
G |
8: 85,421,862 (GRCm39) |
Y213C |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,177,668 (GRCm39) |
R3184* |
probably null |
Het |
| Uroc1 |
G |
T |
6: 90,340,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,476 (GRCm39) |
I10V |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,310,302 (GRCm39) |
A748V |
possibly damaging |
Het |
|
| Other mutations in Map3k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01594:Map3k1
|
APN |
13 |
111,894,723 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01686:Map3k1
|
APN |
13 |
111,891,196 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02104:Map3k1
|
APN |
13 |
111,892,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03071:Map3k1
|
APN |
13 |
111,892,059 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03213:Map3k1
|
APN |
13 |
111,885,426 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Nepal
|
UTSW |
13 |
111,888,983 (GRCm39) |
missense |
probably benign |
0.07 |
|
Snow_leopard
|
UTSW |
13 |
111,892,298 (GRCm39) |
nonsense |
probably null |
|
|
R0005:Map3k1
|
UTSW |
13 |
111,892,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Map3k1
|
UTSW |
13 |
111,892,663 (GRCm39) |
missense |
probably benign |
|
|
R0506:Map3k1
|
UTSW |
13 |
111,892,298 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Map3k1
|
UTSW |
13 |
111,900,044 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0607:Map3k1
|
UTSW |
13 |
111,900,044 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0898:Map3k1
|
UTSW |
13 |
111,904,490 (GRCm39) |
unclassified |
probably benign |
|
|
R1171:Map3k1
|
UTSW |
13 |
111,892,177 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1464:Map3k1
|
UTSW |
13 |
111,892,405 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1464:Map3k1
|
UTSW |
13 |
111,892,405 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1682:Map3k1
|
UTSW |
13 |
111,893,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Map3k1
|
UTSW |
13 |
111,891,953 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1893:Map3k1
|
UTSW |
13 |
111,904,567 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2174:Map3k1
|
UTSW |
13 |
111,889,016 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2215:Map3k1
|
UTSW |
13 |
111,892,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Map3k1
|
UTSW |
13 |
111,885,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3686:Map3k1
|
UTSW |
13 |
111,890,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3783:Map3k1
|
UTSW |
13 |
111,892,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4094:Map3k1
|
UTSW |
13 |
111,892,696 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4231:Map3k1
|
UTSW |
13 |
111,905,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4902:Map3k1
|
UTSW |
13 |
111,909,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4967:Map3k1
|
UTSW |
13 |
111,909,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5465:Map3k1
|
UTSW |
13 |
111,892,654 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5855:Map3k1
|
UTSW |
13 |
111,892,513 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6384:Map3k1
|
UTSW |
13 |
111,887,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Map3k1
|
UTSW |
13 |
111,905,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Map3k1
|
UTSW |
13 |
111,892,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6509:Map3k1
|
UTSW |
13 |
111,890,363 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6644:Map3k1
|
UTSW |
13 |
111,888,983 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6900:Map3k1
|
UTSW |
13 |
111,890,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6943:Map3k1
|
UTSW |
13 |
111,909,246 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6946:Map3k1
|
UTSW |
13 |
111,905,035 (GRCm39) |
nonsense |
probably null |
|
|
R7059:Map3k1
|
UTSW |
13 |
111,909,312 (GRCm39) |
missense |
probably benign |
|
|
R7271:Map3k1
|
UTSW |
13 |
111,893,231 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7290:Map3k1
|
UTSW |
13 |
111,904,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Map3k1
|
UTSW |
13 |
111,891,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Map3k1
|
UTSW |
13 |
111,892,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7827:Map3k1
|
UTSW |
13 |
111,892,663 (GRCm39) |
missense |
probably benign |
|
|
R7990:Map3k1
|
UTSW |
13 |
111,892,696 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8110:Map3k1
|
UTSW |
13 |
111,891,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8119:Map3k1
|
UTSW |
13 |
111,909,156 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8179:Map3k1
|
UTSW |
13 |
111,885,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Map3k1
|
UTSW |
13 |
111,894,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Map3k1
|
UTSW |
13 |
111,892,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8745:Map3k1
|
UTSW |
13 |
111,893,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Map3k1
|
UTSW |
13 |
111,889,015 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8832:Map3k1
|
UTSW |
13 |
111,889,015 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8939:Map3k1
|
UTSW |
13 |
111,892,837 (GRCm39) |
nonsense |
probably null |
|
|
R9640:Map3k1
|
UTSW |
13 |
111,900,699 (GRCm39) |
nonsense |
probably null |
|
|
R9649:Map3k1
|
UTSW |
13 |
111,885,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9653:Map3k1
|
UTSW |
13 |
111,890,296 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9763:Map3k1
|
UTSW |
13 |
111,912,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Map3k1
|
UTSW |
13 |
111,904,630 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0065:Map3k1
|
UTSW |
13 |
111,893,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Map3k1
|
UTSW |
13 |
111,892,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation