Incidental Mutation 'R8119:Map3k1'
| ID |
631410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
067548-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R8119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111909156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 265
(R265G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
[ENSMUST00000145055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109267
AA Change: R265G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: R265G
| 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 |
possibly damaging
Transcript: ENSMUST00000145055
AA Change: R107G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117863
Gene: ENSMUSG00000021754
AA Change: R107G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
98 |
N/A |
INTRINSIC |
|
Pfam:SWIM
|
175 |
203 |
2.2e-8 |
PFAM |
|
low complexity region
|
259 |
264 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,087,930 (GRCm39) |
I1066V |
probably benign |
Het |
| Abcd2 |
T |
C |
15: 91,033,197 (GRCm39) |
T740A |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,094,852 (GRCm39) |
L117P |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,686,160 (GRCm39) |
S1347T |
probably damaging |
Het |
| Apol7e |
T |
C |
15: 77,601,956 (GRCm39) |
S185P |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,942,734 (GRCm39) |
C2088Y |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,851,825 (GRCm39) |
S205G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,704,672 (GRCm39) |
I2803V |
unknown |
Het |
| Cfh |
A |
C |
1: 140,047,753 (GRCm39) |
F477V |
possibly damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,056 (GRCm39) |
V144A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 17,077,310 (GRCm39) |
S116P |
probably damaging |
Het |
| Dgkd |
A |
T |
1: 87,845,689 (GRCm39) |
T299S |
possibly damaging |
Het |
| Fam20b |
T |
G |
1: 156,518,072 (GRCm39) |
T241P |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,493 (GRCm39) |
M925K |
probably benign |
Het |
| Ftdc1 |
C |
A |
16: 58,437,211 (GRCm39) |
M32I |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,299,607 (GRCm39) |
R987Q |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,316 (GRCm39) |
V226A |
probably damaging |
Het |
| Lypd2 |
A |
G |
15: 74,604,881 (GRCm39) |
V38A |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,601,500 (GRCm39) |
V610M |
possibly damaging |
Het |
| Mocs1 |
C |
T |
17: 49,756,547 (GRCm39) |
R244C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,103,232 (GRCm39) |
T677A |
probably damaging |
Het |
| Ngp |
A |
G |
9: 110,251,421 (GRCm39) |
N150D |
probably benign |
Het |
| Nipbl |
C |
T |
15: 8,388,696 (GRCm39) |
R308Q |
probably benign |
Het |
| Nsrp1 |
A |
G |
11: 76,939,177 (GRCm39) |
|
probably null |
Het |
| Or2y16 |
A |
T |
11: 49,334,953 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,908 (GRCm39) |
I206N |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,061 (GRCm39) |
I51F |
probably damaging |
Het |
| Pbld2 |
A |
T |
10: 62,889,656 (GRCm39) |
D146V |
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,213,701 (GRCm39) |
K197* |
probably null |
Het |
| Ptprd |
G |
T |
4: 76,047,263 (GRCm39) |
S87R |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slc25a35 |
T |
C |
11: 68,862,798 (GRCm39) |
L251S |
probably benign |
Het |
| Slx4 |
A |
T |
16: 3,803,136 (GRCm39) |
L1226* |
probably null |
Het |
| Smarca4 |
T |
C |
9: 21,558,922 (GRCm39) |
V651A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,071,303 (GRCm39) |
F583L |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,526 (GRCm39) |
K932E |
probably benign |
Het |
| Trav8d-1 |
A |
T |
14: 53,016,425 (GRCm39) |
T104S |
probably benign |
Het |
| Trmt9b |
G |
A |
8: 36,965,576 (GRCm39) |
W32* |
probably null |
Het |
| Trpm4 |
A |
T |
7: 44,976,552 (GRCm39) |
V155D |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,752,429 (GRCm39) |
Y1445F |
possibly damaging |
Het |
| Ttll5 |
C |
A |
12: 86,067,322 (GRCm39) |
N1270K |
probably damaging |
Het |
| Usp40 |
G |
T |
1: 87,895,400 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,690 (GRCm39) |
M1V |
probably null |
Het |
| Wwox |
T |
C |
8: 115,433,108 (GRCm39) |
V258A |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp770 |
G |
A |
2: 114,027,508 (GRCm39) |
T187I |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,241,969 (GRCm39) |
|
probably null |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,267 (GRCm39) |
Q75R |
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 |
|
|
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 |
|
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'- ACCAGTGTCCACAGAGCATC -3'
(R):5'- GGTGAAGCCAATCCCTATTAAAG -3'
Sequencing Primer
(F):5'- CCTAGTTTTGACCTGACAGAAGAGC -3'
(R):5'- GAATAACTTGGCAGCTGA -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation