Incidental Mutation 'R8939:Map3k1'
ID |
680866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k1
|
Ensembl Gene |
ENSMUSG00000021754 |
Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
Synonyms |
MEKK1, Mekk |
MMRRC Submission |
068712-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.852)
|
Stock # |
R8939 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 111892837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 806
(S806*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000109267
AA Change: S806*
|
SMART Domains |
Protein: ENSMUSP00000104890 Gene: ENSMUSG00000021754 AA Change: S806*
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: 98.9%
|
Validation Efficiency |
100% (71/71) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
G |
14: 64,225,162 (GRCm39) |
V12A |
probably benign |
Het |
Abcc12 |
A |
G |
8: 87,243,947 (GRCm39) |
Y1069H |
probably damaging |
Het |
Abcc9 |
T |
C |
6: 142,624,977 (GRCm39) |
T473A |
probably damaging |
Het |
Acsm1 |
A |
T |
7: 119,239,868 (GRCm39) |
T271S |
probably benign |
Het |
Adh6b |
T |
C |
3: 138,055,397 (GRCm39) |
I49T |
probably benign |
Het |
Aff4 |
A |
T |
11: 53,263,231 (GRCm39) |
T84S |
probably benign |
Het |
Angptl7 |
G |
A |
4: 148,580,956 (GRCm39) |
R280* |
probably null |
Het |
Bhlhe23 |
T |
A |
2: 180,418,099 (GRCm39) |
K146N |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,014,544 (GRCm39) |
|
probably null |
Het |
Cfap45 |
C |
G |
1: 172,372,834 (GRCm39) |
R510G |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,642,868 (GRCm39) |
Y202C |
probably damaging |
Het |
Chrna6 |
T |
A |
8: 27,896,870 (GRCm39) |
T336S |
probably benign |
Het |
Clpx |
A |
G |
9: 65,231,519 (GRCm39) |
K535E |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,376,512 (GRCm39) |
M1581V |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,758,823 (GRCm39) |
I246K |
probably benign |
Het |
F7 |
G |
T |
8: 13,078,724 (GRCm39) |
G52C |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,177,223 (GRCm39) |
Q701R |
probably benign |
Het |
Fign |
T |
A |
2: 63,809,456 (GRCm39) |
M605L |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,883 (GRCm39) |
F293S |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gria2 |
A |
T |
3: 80,618,170 (GRCm39) |
|
probably benign |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Gsto2 |
T |
C |
19: 47,873,203 (GRCm39) |
|
probably null |
Het |
Hsd3b1 |
A |
G |
3: 98,760,299 (GRCm39) |
W231R |
probably damaging |
Het |
Igflr1 |
CAGAG |
CAG |
7: 30,266,888 (GRCm39) |
|
probably null |
Het |
Ighv1-80 |
C |
T |
12: 115,876,113 (GRCm39) |
G68R |
probably damaging |
Het |
Il10ra |
A |
G |
9: 45,177,802 (GRCm39) |
V69A |
unknown |
Het |
Klhdc1 |
C |
T |
12: 69,300,537 (GRCm39) |
A159V |
probably damaging |
Het |
Krtap4-6 |
A |
G |
11: 99,556,229 (GRCm39) |
I166T |
unknown |
Het |
Lce1h |
A |
T |
3: 92,670,976 (GRCm39) |
C59S |
unknown |
Het |
Magi3 |
T |
C |
3: 103,996,748 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,979,954 (GRCm39) |
|
probably benign |
Het |
Mgam |
G |
A |
6: 40,740,137 (GRCm39) |
|
probably null |
Het |
Mtx1 |
A |
G |
3: 89,120,033 (GRCm39) |
V207A |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,347,091 (GRCm39) |
N356Y |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,524,679 (GRCm39) |
F810S |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,166,761 (GRCm39) |
L774P |
probably damaging |
Het |
Nr1i2 |
C |
T |
16: 38,086,382 (GRCm39) |
V28I |
probably benign |
Het |
Or10h28 |
A |
G |
17: 33,488,589 (GRCm39) |
K297R |
probably damaging |
Het |
Or5b122 |
A |
C |
19: 13,562,860 (GRCm39) |
N64T |
probably damaging |
Het |
Pcmtd2 |
T |
C |
2: 181,496,863 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,730,347 (GRCm39) |
L102P |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,571,319 (GRCm39) |
E114G |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,110,926 (GRCm39) |
V70A |
probably damaging |
Het |
Psd2 |
G |
A |
18: 36,121,292 (GRCm39) |
V421M |
probably damaging |
Het |
Qng1 |
C |
T |
13: 58,532,875 (GRCm39) |
A32T |
probably damaging |
Het |
Rbak |
C |
T |
5: 143,160,025 (GRCm39) |
E343K |
possibly damaging |
Het |
Rhbdf1 |
G |
A |
11: 32,160,093 (GRCm39) |
A136V |
probably benign |
Het |
Rusc1 |
T |
A |
3: 88,995,337 (GRCm39) |
E231D |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,552,231 (GRCm39) |
E690G |
probably damaging |
Het |
Sdr9c7 |
A |
G |
10: 127,734,776 (GRCm39) |
E88G |
probably benign |
Het |
Sec23b |
T |
C |
2: 144,411,137 (GRCm39) |
|
probably null |
Het |
Sgcb |
A |
T |
5: 73,801,661 (GRCm39) |
I68N |
probably damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,364,433 (GRCm39) |
|
probably benign |
Het |
Slc25a48 |
C |
T |
13: 56,611,519 (GRCm39) |
P209S |
probably damaging |
Het |
Slc9a3 |
C |
A |
13: 74,311,895 (GRCm39) |
H614Q |
possibly damaging |
Het |
Slurp1 |
G |
A |
15: 74,598,763 (GRCm39) |
S76L |
probably damaging |
Het |
Spen |
T |
C |
4: 141,202,969 (GRCm39) |
E1886G |
possibly damaging |
Het |
Sqor |
C |
T |
2: 122,649,549 (GRCm39) |
P151S |
possibly damaging |
Het |
Sstr4 |
C |
A |
2: 148,238,228 (GRCm39) |
L280M |
probably damaging |
Het |
Stard10 |
A |
G |
7: 100,991,847 (GRCm39) |
Y117C |
probably damaging |
Het |
Stard13 |
A |
T |
5: 150,968,574 (GRCm39) |
|
probably null |
Het |
Stim2 |
G |
T |
5: 54,262,673 (GRCm39) |
R305L |
possibly damaging |
Het |
Syt14 |
G |
A |
1: 192,612,896 (GRCm39) |
R635C |
probably damaging |
Het |
Tmcc3 |
A |
T |
10: 94,381,483 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,575,695 (GRCm39) |
N23320S |
possibly damaging |
Het |
Ubqln4 |
A |
G |
3: 88,473,023 (GRCm39) |
T493A |
probably benign |
Het |
Ugt2b34 |
A |
G |
5: 87,039,158 (GRCm39) |
L501P |
probably damaging |
Het |
Umod |
T |
C |
7: 119,068,700 (GRCm39) |
I449V |
probably damaging |
Het |
Vmn2r51 |
C |
A |
7: 9,833,953 (GRCm39) |
D362Y |
possibly damaging |
Het |
Xirp2 |
A |
C |
2: 67,346,488 (GRCm39) |
T2910P |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,498,315 (GRCm39) |
S28P |
probably benign |
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 |
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 |
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'- TGACCTCGGCAATTTCTACC -3'
(R):5'- CATAGAAGCCTGAAGACTGGGC -3'
Sequencing Primer
(F):5'- GCAATTTCTACCTCATCCGCGATAG -3'
(R):5'- GCCTGAAGACTGGGCTAAACATTTAC -3'
|
Posted On |
2021-08-31 |