Incidental Mutation 'R9640:Map3k1'
| ID |
725936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R9640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 111900699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 442
(L442*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109267]
[ENSMUST00000145055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109267
AA Change: L442*
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: L442*
| 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 |
probably benign
Transcript: ENSMUST00000145055
|
| SMART Domains |
Protein: ENSMUSP00000117863
Gene: ENSMUSG00000021754
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
C |
16: 14,436,589 (GRCm39) |
V214A |
|
Het |
| A830018L16Rik |
A |
G |
1: 12,021,200 (GRCm39) |
K403R |
probably damaging |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,412,809 (GRCm39) |
R44W |
possibly damaging |
Het |
| Abhd17c |
A |
T |
7: 83,800,814 (GRCm39) |
L80Q |
probably damaging |
Het |
| Adam30 |
T |
A |
3: 98,069,620 (GRCm39) |
D484E |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,010 (GRCm39) |
V2299E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
T |
15: 38,689,381 (GRCm39) |
R281W |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,553 (GRCm39) |
|
probably null |
Het |
| Ccdc50 |
T |
C |
16: 27,225,461 (GRCm39) |
V58A |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,126,352 (GRCm39) |
S187P |
probably benign |
Het |
| Clip4 |
C |
T |
17: 72,163,264 (GRCm39) |
T612M |
possibly damaging |
Het |
| Corin |
C |
T |
5: 72,592,597 (GRCm39) |
V267I |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 40,000,180 (GRCm39) |
I434K |
probably benign |
Het |
| Ddx43 |
T |
G |
9: 78,303,389 (GRCm39) |
D76E |
probably benign |
Het |
| Dusp5 |
A |
G |
19: 53,526,051 (GRCm39) |
E231G |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,394 (GRCm39) |
V242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,831,896 (GRCm39) |
R1973S |
probably benign |
Het |
| Gas2l3 |
A |
T |
10: 89,266,774 (GRCm39) |
D55E |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,477,303 (GRCm39) |
I195V |
probably benign |
Het |
| H2-M1 |
G |
T |
17: 36,983,031 (GRCm39) |
T20K |
probably benign |
Het |
| H2-Q2 |
T |
G |
17: 35,562,206 (GRCm39) |
L151R |
probably damaging |
Het |
| Hbegf |
T |
C |
18: 36,640,643 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hectd1 |
C |
A |
12: 51,795,197 (GRCm39) |
E2411* |
probably null |
Het |
| Igkv11-125 |
T |
A |
6: 67,890,783 (GRCm39) |
S34T |
possibly damaging |
Het |
| Jam2 |
A |
T |
16: 84,609,960 (GRCm39) |
T191S |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,185,089 (GRCm39) |
I457T |
probably damaging |
Het |
| Khk |
A |
G |
5: 31,079,303 (GRCm39) |
D15G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,875 (GRCm39) |
Y2244* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,078,929 (GRCm39) |
N1841S |
|
Het |
| Lrp4 |
A |
G |
2: 91,316,296 (GRCm39) |
T805A |
probably benign |
Het |
| Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,155,647 (GRCm39) |
N61S |
possibly damaging |
Het |
| Matcap2 |
A |
T |
9: 22,351,228 (GRCm39) |
I457L |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,754,539 (GRCm39) |
V4685E |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,745,325 (GRCm39) |
E134G |
possibly damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,575 (GRCm39) |
V403A |
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,232,196 (GRCm39) |
T255K |
probably damaging |
Het |
| Or1i2 |
G |
C |
10: 78,448,311 (GRCm39) |
L55V |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,761 (GRCm39) |
M58L |
probably damaging |
Het |
| Or5ae2 |
G |
A |
7: 84,506,114 (GRCm39) |
C181Y |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,396 (GRCm39) |
L51P |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,515,355 (GRCm39) |
D126E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,397,142 (GRCm39) |
T675A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,116 (GRCm39) |
D185G |
probably damaging |
Het |
| Rnase2a |
G |
A |
14: 51,493,117 (GRCm39) |
R83C |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,583,994 (GRCm39) |
T784A |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,189 (GRCm39) |
T272S |
|
Het |
| Sorcs2 |
G |
T |
5: 36,222,765 (GRCm39) |
S330* |
probably null |
Het |
| Spdef |
G |
T |
17: 27,936,183 (GRCm39) |
H253Q |
|
Het |
| Tas2r144 |
A |
G |
6: 42,192,428 (GRCm39) |
E56G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,074,825 (GRCm39) |
C479R |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,034 (GRCm39) |
L28Q |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,098 (GRCm39) |
S109P |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,347,276 (GRCm39) |
|
probably benign |
Het |
| Wwox |
A |
G |
8: 115,166,540 (GRCm39) |
D10G |
possibly damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,493 (GRCm39) |
Y698C |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,458 (GRCm39) |
D183G |
probably benign |
Het |
| Zfp932 |
T |
C |
5: 110,157,064 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,209,899 (GRCm39) |
L57H |
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 |
|
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 |
|
|
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'- TCTGCTCCAGACAATGTCCC -3'
(R):5'- ATCCAGTTCCGTGGTTCTG -3'
Sequencing Primer
(F):5'- TGTCCCCACAACCCCGAG -3'
(R):5'- CCTGAATTCCTATGTGTTAACAGGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation