Incidental Mutation 'R6946:Map3k1'
| ID |
540903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R6946 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 111905035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 213
(W213*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117863
(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: W371*
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: W371*
| 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 null
Transcript: ENSMUST00000145055
AA Change: W213*
|
| SMART Domains |
Protein: ENSMUSP00000117863
Gene: ENSMUSG00000021754
AA Change: W213*
| 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: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,779,968 (GRCm39) |
T1142A |
possibly damaging |
Het |
| Atxn1l |
G |
T |
8: 110,458,648 (GRCm39) |
P538H |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
| Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
| Dap3 |
T |
A |
3: 88,845,523 (GRCm39) |
|
probably benign |
Het |
| Dgki |
C |
A |
6: 37,276,571 (GRCm39) |
G105* |
probably null |
Het |
| Dnm3 |
T |
C |
1: 162,141,224 (GRCm39) |
E345G |
possibly damaging |
Het |
| Fam120a |
A |
T |
13: 49,034,496 (GRCm39) |
S1039T |
possibly damaging |
Het |
| Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
| Igll1 |
A |
G |
16: 16,678,920 (GRCm39) |
V130A |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,616,955 (GRCm39) |
K137* |
probably null |
Het |
| Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,587,451 (GRCm39) |
I166V |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,413,569 (GRCm39) |
M134T |
possibly damaging |
Het |
| Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
| Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
| Nop53 |
C |
T |
7: 15,672,283 (GRCm39) |
R462Q |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 143,923,034 (GRCm39) |
D433V |
possibly damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,528 (GRCm39) |
I210F |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
| Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
| Or8k38 |
T |
A |
2: 86,487,932 (GRCm39) |
Y290F |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,672 (GRCm39) |
L546Q |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,230,929 (GRCm39) |
M4L |
probably benign |
Het |
| Prss21 |
T |
C |
17: 24,087,138 (GRCm39) |
S24P |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,545 (GRCm39) |
D1815G |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,321,953 (GRCm39) |
E8G |
probably null |
Het |
| Sec31b |
T |
C |
19: 44,522,755 (GRCm39) |
D79G |
probably damaging |
Het |
| Siah1a |
G |
T |
8: 87,451,770 (GRCm39) |
A238E |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,911,999 (GRCm39) |
E290K |
possibly damaging |
Het |
| Srl |
T |
C |
16: 4,300,423 (GRCm39) |
I883V |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
| Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,580,199 (GRCm39) |
W23565R |
probably damaging |
Het |
| Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
| Zfp112 |
A |
T |
7: 23,824,766 (GRCm39) |
N245Y |
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 |
|
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'- CTGCCTTTTACAGTTTAGGAGAAGG -3'
(R):5'- ATCGACTTGAAACTTCAGAGCATG -3'
Sequencing Primer
(F):5'- TCTGTCACTCAGGAAATCACCAAGG -3'
(R):5'- GAGCATGATAACTAGAACCATTCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation