Incidental Mutation 'R7990:Map3k1'
| ID |
651700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
046031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R7990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111892696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 853
(M853K)
|
| 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: M853K
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: M853K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,970,549 (GRCm39) |
V28I |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,651,162 (GRCm39) |
|
probably null |
Het |
| Alg2 |
T |
C |
4: 47,472,308 (GRCm39) |
T167A |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,044,586 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,024,079 (GRCm39) |
C1730* |
probably null |
Het |
| Atp8b1 |
T |
C |
18: 64,671,748 (GRCm39) |
T1092A |
possibly damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,672 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,934,244 (GRCm39) |
V211A |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,854,314 (GRCm39) |
S436P |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,547 (GRCm39) |
E268G |
probably damaging |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,709,577 (GRCm39) |
K2480T |
unknown |
Het |
| Cryba1 |
T |
C |
11: 77,614,411 (GRCm39) |
T21A |
possibly damaging |
Het |
| Csn1s1 |
C |
T |
5: 87,827,912 (GRCm39) |
A259V |
possibly damaging |
Het |
| Dap3 |
A |
C |
3: 88,835,814 (GRCm39) |
Y206* |
probably null |
Het |
| Etnppl |
T |
C |
3: 130,424,308 (GRCm39) |
I360T |
possibly damaging |
Het |
| Gal3st3 |
A |
T |
19: 5,352,617 (GRCm39) |
M15L |
probably benign |
Het |
| Gdf5 |
A |
G |
2: 155,783,749 (GRCm39) |
V401A |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,792,137 (GRCm39) |
S628P |
possibly damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,397 (GRCm39) |
I98F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,040 (GRCm39) |
K1016E |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,452 (GRCm39) |
N850D |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,685,629 (GRCm39) |
L466I |
unknown |
Het |
| Jkampl |
T |
C |
6: 73,446,528 (GRCm39) |
Y7C |
probably damaging |
Het |
| Kcnj16 |
C |
A |
11: 110,915,886 (GRCm39) |
R183S |
probably damaging |
Het |
| Kcnk2 |
A |
C |
1: 188,942,102 (GRCm39) |
L389R |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,309,685 (GRCm39) |
K949N |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,159,383 (GRCm39) |
E395K |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Metap1 |
T |
G |
3: 138,186,526 (GRCm39) |
T68P |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,750,323 (GRCm39) |
V114A |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,475 (GRCm39) |
R1566H |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,529 (GRCm39) |
M233K |
probably damaging |
Het |
| Ncor1 |
T |
G |
11: 62,240,321 (GRCm39) |
|
probably null |
Het |
| Npl |
A |
T |
1: 153,413,230 (GRCm39) |
V29D |
possibly damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,497 (GRCm39) |
V219I |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,881,948 (GRCm39) |
I65M |
possibly damaging |
Het |
| Rabepk |
C |
T |
2: 34,670,720 (GRCm39) |
V247I |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,327 (GRCm39) |
P804S |
unknown |
Het |
| Rpgrip1 |
A |
T |
14: 52,366,975 (GRCm39) |
Y265F |
possibly damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,000,554 (GRCm39) |
D315G |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,213,246 (GRCm39) |
N555K |
probably benign |
Het |
| Spata17 |
T |
A |
1: 186,872,592 (GRCm39) |
H26L |
unknown |
Het |
| Sphkap |
C |
T |
1: 83,245,066 (GRCm39) |
D1518N |
probably damaging |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Tmx2 |
A |
G |
2: 84,506,480 (GRCm39) |
F71L |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,274,996 (GRCm39) |
L1823Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,983 (GRCm39) |
D612E |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,819,752 (GRCm39) |
L1484Q |
|
Het |
| Zan |
A |
G |
5: 137,391,352 (GRCm39) |
S4711P |
unknown |
Het |
| Zdhhc1 |
A |
G |
8: 106,203,001 (GRCm39) |
|
probably null |
Het |
| Zfp971 |
C |
T |
2: 177,675,361 (GRCm39) |
T320I |
probably 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 |
|
IGL03087:Map3k1
|
APN |
13 |
111,885,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATGTCCTCCGAGCTGG -3'
(R):5'- GTACAAGAAGCTGCTCTCCC -3'
Sequencing Primer
(F):5'- GGCACTCAGTCTCGTAGCACTTAG -3'
(R):5'- AAGAAGCTGCTCTCCCTCTTAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation