Incidental Mutation 'R2174:Map3k1'
| ID |
237724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
040176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R2174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 111889016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 1314
(H1314D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109267
AA Change: H1314D
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: H1314D
| 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
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (73/74) |
| 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 |
|---|
| 1600014C10Rik |
T |
C |
7: 37,894,252 (GRCm39) |
I95T |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,131,632 (GRCm39) |
I619T |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,731 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
T |
A |
14: 33,782,357 (GRCm39) |
L180Q |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,386,760 (GRCm39) |
I289N |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,586,701 (GRCm39) |
S164A |
possibly damaging |
Het |
| Cacnb2 |
C |
T |
2: 14,963,578 (GRCm39) |
T108I |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,307,290 (GRCm39) |
I516N |
probably benign |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,267,318 (GRCm39) |
K73R |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,558,109 (GRCm38) |
I159V |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,487,825 (GRCm39) |
H823R |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,409,175 (GRCm39) |
I404V |
probably damaging |
Het |
| Ddx60 |
G |
T |
8: 62,470,234 (GRCm39) |
M1407I |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,427,154 (GRCm39) |
R844W |
probably damaging |
Het |
| Depdc1b |
A |
T |
13: 108,498,787 (GRCm39) |
K157* |
probably null |
Het |
| Dnai7 |
T |
C |
6: 145,120,896 (GRCm39) |
H641R |
probably damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,312,762 (GRCm39) |
D196G |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,998,009 (GRCm39) |
W1226R |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,787,046 (GRCm39) |
V297A |
possibly damaging |
Het |
| Fnta |
A |
T |
8: 26,503,498 (GRCm39) |
F96I |
possibly damaging |
Het |
| Fzd3 |
T |
C |
14: 65,449,680 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,484,353 (GRCm39) |
V597A |
possibly damaging |
Het |
| Gm43302 |
T |
C |
5: 105,422,216 (GRCm39) |
K496R |
probably benign |
Het |
| Gm5283 |
A |
G |
3: 17,285,005 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6741 |
A |
G |
17: 91,544,332 (GRCm39) |
I32V |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,269,906 (GRCm39) |
F870I |
probably damaging |
Het |
| Gpx8 |
G |
A |
13: 113,182,140 (GRCm39) |
P98S |
probably benign |
Het |
| Grm2 |
T |
C |
9: 106,524,994 (GRCm39) |
I574V |
probably benign |
Het |
| Gtf3c5 |
T |
C |
2: 28,457,787 (GRCm39) |
D468G |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,856,898 (GRCm39) |
M482L |
probably benign |
Het |
| Ier5 |
G |
T |
1: 154,974,599 (GRCm39) |
P193H |
possibly damaging |
Het |
| Inpp4a |
A |
G |
1: 37,435,211 (GRCm39) |
N827S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,922,652 (GRCm39) |
L387P |
probably damaging |
Het |
| Mbl2 |
G |
A |
19: 30,211,412 (GRCm39) |
C11Y |
possibly damaging |
Het |
| Msr1 |
A |
G |
8: 40,084,381 (GRCm39) |
L58P |
probably damaging |
Het |
| Mtmr10 |
T |
A |
7: 63,986,512 (GRCm39) |
F530Y |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,116,610 (GRCm39) |
L999P |
probably damaging |
Het |
| Myoz3 |
T |
C |
18: 60,723,296 (GRCm39) |
E8G |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,435,495 (GRCm39) |
M1009I |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,102,411 (GRCm39) |
M342K |
probably damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,070,228 (GRCm39) |
H131R |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,148,849 (GRCm39) |
L152P |
probably damaging |
Het |
| Or9s23 |
A |
G |
1: 92,501,379 (GRCm39) |
N162S |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,552,786 (GRCm39) |
Q2074L |
probably benign |
Het |
| Pthlh |
G |
A |
6: 147,158,510 (GRCm39) |
T150I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,541,414 (GRCm39) |
Y371N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,009,975 (GRCm39) |
S377P |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sap130 |
T |
C |
18: 31,810,532 (GRCm39) |
|
probably null |
Het |
| Sap25 |
T |
G |
5: 137,640,891 (GRCm39) |
M229R |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,766,321 (GRCm39) |
V479E |
probably null |
Het |
| Scn3a |
T |
A |
2: 65,337,550 (GRCm39) |
D649V |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,673,319 (GRCm39) |
Y406* |
probably null |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,192,284 (GRCm39) |
E145G |
possibly damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,711,590 (GRCm39) |
I277F |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,674,177 (GRCm39) |
S1754P |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,801,135 (GRCm39) |
D1117G |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,137 (GRCm39) |
M605V |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,514 (GRCm39) |
D440V |
possibly damaging |
Het |
| Tmem67 |
C |
T |
4: 12,063,730 (GRCm39) |
W477* |
probably null |
Het |
| Tra2a |
T |
C |
6: 49,227,861 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,380 (GRCm39) |
F51L |
possibly damaging |
Het |
| Trrap |
C |
A |
5: 144,758,665 (GRCm39) |
P2183Q |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,447,076 (GRCm39) |
|
probably null |
Het |
| Unc5d |
A |
T |
8: 29,184,568 (GRCm39) |
V644E |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,827,547 (GRCm39) |
L883P |
probably damaging |
Het |
| Zbbx |
T |
G |
3: 74,959,721 (GRCm39) |
D616A |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,804 (GRCm39) |
C297S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCAAGTTTTAAAATGACACTCG -3'
(R):5'- CCAGCCAGTTGTTAAGTGCTTG -3'
Sequencing Primer
(F):5'- GTTTTCTTGCCATCACTAGAAGACGG -3'
(R):5'- AGACAGTGTGTACCTCGGTCAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation