Incidental Mutation 'R7271:Map3k1'
| ID |
565319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
045356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R7271 (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 111893231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 758
(D758G)
|
| 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: D758G
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: D758G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
C |
T |
10: 42,291,544 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alpk3 |
A |
G |
7: 80,728,202 (GRCm39) |
E444G |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,123 (GRCm39) |
D439E |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,781 (GRCm39) |
Y222C |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,421,944 (GRCm39) |
K827Q |
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,576,047 (GRCm39) |
|
|
Het |
| Casp7 |
T |
A |
19: 56,424,793 (GRCm39) |
C171S |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,164 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdkl1 |
A |
G |
12: 69,795,585 (GRCm39) |
L315S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,148,708 (GRCm39) |
I240T |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,619 (GRCm39) |
S1163* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 17,077,295 (GRCm39) |
W121R |
probably damaging |
Het |
| Cyyr1 |
A |
T |
16: 85,262,493 (GRCm39) |
M88K |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,049,954 (GRCm39) |
Q587R |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,223,750 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Dynap |
T |
A |
18: 70,374,320 (GRCm39) |
T69S |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,733,874 (GRCm39) |
C225R |
probably damaging |
Het |
| Fbxo31 |
C |
T |
8: 122,305,503 (GRCm39) |
|
probably benign |
Het |
| Fndc11 |
G |
A |
2: 180,863,893 (GRCm39) |
V233I |
possibly damaging |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,433,758 (GRCm39) |
L223P |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,357,042 (GRCm39) |
H20Q |
probably damaging |
Het |
| Impa2 |
T |
A |
18: 67,439,806 (GRCm39) |
I101N |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,570 (GRCm39) |
T854S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,423 (GRCm39) |
C385S |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,853 (GRCm39) |
S543G |
probably benign |
Het |
| Manba |
A |
T |
3: 135,248,137 (GRCm39) |
Y342F |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,630,942 (GRCm39) |
A2300S |
possibly damaging |
Het |
| Musk |
T |
A |
4: 58,373,409 (GRCm39) |
M793K |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Or10ab4 |
G |
A |
7: 107,654,423 (GRCm39) |
R78Q |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,725 (GRCm39) |
N30K |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,693 (GRCm39) |
T239A |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,953 (GRCm39) |
Y259* |
probably null |
Het |
| Pcdh12 |
C |
A |
18: 38,416,100 (GRCm39) |
V342F |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,222 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,690 (GRCm39) |
A587V |
probably benign |
Het |
| Phkb |
C |
T |
8: 86,770,418 (GRCm39) |
P896S |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,543,877 (GRCm39) |
S165P |
probably benign |
Het |
| Prss43 |
A |
G |
9: 110,657,671 (GRCm39) |
D190G |
probably damaging |
Het |
| Psmd14 |
T |
C |
2: 61,591,356 (GRCm39) |
V53A |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,273,704 (GRCm39) |
H1054P |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,631 (GRCm39) |
R70G |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,378,617 (GRCm39) |
Q21R |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,288 (GRCm39) |
E262G |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,384 (GRCm39) |
L407P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,325 (GRCm39) |
V266A |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,913 (GRCm39) |
R738S |
probably benign |
Het |
| Speer4a2 |
G |
A |
5: 26,292,993 (GRCm39) |
T67I |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,442,715 (GRCm39) |
G38S |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,838,972 (GRCm39) |
|
probably null |
Het |
| Syde2 |
A |
G |
3: 145,726,031 (GRCm39) |
N1308D |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,611 (GRCm39) |
M1151K |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,727,820 (GRCm39) |
I861F |
possibly damaging |
Het |
| Zfp319 |
G |
A |
8: 96,058,471 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,831,907 (GRCm39) |
N33D |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,591,415 (GRCm39) |
I90F |
probably benign |
Het |
| Zmiz2 |
G |
T |
11: 6,349,593 (GRCm39) |
V412L |
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 |
|
|
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'- AATGTTTAGCCCAGTCTTCAGGC -3'
(R):5'- CGCAAGGTTTACATGAGCCTTC -3'
Sequencing Primer
(F):5'- CAGGCTTCTATGCTACTCAAATATG -3'
(R):5'- ACATGAGCCTTCCCGTTACATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation