Incidental Mutation 'R8397:Map3k1'
| ID |
647683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
067760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R8397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111892138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1039
(H1039L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109267
AA Change: H1039L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: H1039L
| 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: 99.7%
- 20x: 99.2%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,767,141 (GRCm39) |
T499A |
probably benign |
Het |
| Ahsa1 |
G |
T |
12: 87,320,451 (GRCm39) |
E311* |
probably null |
Het |
| Apol9a |
C |
T |
15: 77,288,813 (GRCm39) |
V185I |
probably benign |
Het |
| Arhgap27 |
T |
A |
11: 103,224,073 (GRCm39) |
D580V |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,978,440 (GRCm39) |
S298A |
possibly damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,756,989 (GRCm39) |
T481S |
probably benign |
Het |
| Cct8 |
G |
A |
16: 87,290,651 (GRCm39) |
R59C |
possibly damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,801 (GRCm39) |
G501E |
possibly damaging |
Het |
| Chka |
G |
A |
19: 3,902,414 (GRCm39) |
|
probably null |
Het |
| Cit |
C |
A |
5: 116,024,856 (GRCm39) |
N366K |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,796,391 (GRCm39) |
M806L |
probably benign |
Het |
| Dhx9 |
T |
A |
1: 153,344,657 (GRCm39) |
H510L |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,209,966 (GRCm39) |
V305I |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,790,985 (GRCm39) |
C42S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,561,715 (GRCm39) |
M160V |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,562 (GRCm39) |
V1315A |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,231,464 (GRCm39) |
N374I |
possibly damaging |
Het |
| Gm11992 |
T |
G |
11: 9,011,305 (GRCm39) |
S249A |
probably damaging |
Het |
| Gm14418 |
T |
A |
2: 177,079,086 (GRCm39) |
Q303L |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,397,957 (GRCm39) |
P295Q |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,018,579 (GRCm39) |
N954D |
probably benign |
Het |
| Klf15 |
C |
T |
6: 90,443,778 (GRCm39) |
H118Y |
probably damaging |
Het |
| Lrit2 |
G |
T |
14: 36,791,034 (GRCm39) |
A238S |
probably damaging |
Het |
| Man2c1 |
A |
C |
9: 57,042,783 (GRCm39) |
M218L |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,769,136 (GRCm39) |
S971P |
probably benign |
Het |
| Map4k3 |
C |
T |
17: 80,971,446 (GRCm39) |
V74I |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,136,368 (GRCm39) |
S486T |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,371,887 (GRCm39) |
S327R |
possibly damaging |
Het |
| Mkks |
G |
A |
2: 136,722,923 (GRCm39) |
T78M |
possibly damaging |
Het |
| Mst1 |
C |
T |
9: 107,958,698 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
G |
T |
11: 67,112,465 (GRCm39) |
A1811S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,241,113 (GRCm39) |
H830R |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,505 (GRCm39) |
D443G |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,438,518 (GRCm39) |
L137P |
probably damaging |
Het |
| Nipsnap3b |
T |
C |
4: 53,012,049 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
G |
T |
1: 170,155,194 (GRCm39) |
P220T |
unknown |
Het |
| Nrxn3 |
T |
A |
12: 90,298,583 (GRCm39) |
I368N |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,649,156 (GRCm39) |
Q562L |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,880,266 (GRCm39) |
L342Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,163,232 (GRCm39) |
S264P |
probably damaging |
Het |
| Or11g24 |
G |
T |
14: 50,662,137 (GRCm39) |
D54Y |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,395,927 (GRCm39) |
S567P |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,955,754 (GRCm39) |
S261A |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,126,865 (GRCm39) |
P315S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,616 (GRCm39) |
H827Q |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,719,045 (GRCm39) |
L615F |
probably damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,492,768 (GRCm39) |
H236L |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,439,675 (GRCm39) |
G384E |
probably benign |
Het |
| Rmnd1 |
C |
A |
10: 4,377,278 (GRCm39) |
E134* |
probably null |
Het |
| Rusc2 |
T |
A |
4: 43,424,206 (GRCm39) |
H1090Q |
possibly damaging |
Het |
| Sema5b |
A |
C |
16: 35,471,691 (GRCm39) |
Y428S |
possibly damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,866,010 (GRCm39) |
I301L |
probably benign |
Het |
| Slc38a11 |
C |
T |
2: 65,160,635 (GRCm39) |
V320M |
probably damaging |
Het |
| Slc4a5 |
G |
T |
6: 83,266,308 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
T |
C |
8: 106,920,165 (GRCm39) |
I320T |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,246,542 (GRCm39) |
I837T |
probably benign |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Tlr3 |
A |
T |
8: 45,851,896 (GRCm39) |
F334I |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,217,290 (GRCm39) |
I530V |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,722 (GRCm39) |
D64G |
possibly damaging |
Het |
| Zfp157 |
T |
A |
5: 138,454,518 (GRCm39) |
Y239N |
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 |
|
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 |
|
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'- TGAACACTGTCTCTTCGCTG -3'
(R):5'- GCTCAATTAATGTTCCCAGCACC -3'
Sequencing Primer
(F):5'- AACACTGTCTCTTCGCTGGGTATG -3'
(R):5'- CTGTCCCAGATATTTCTAAGCACAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation