Incidental Mutation 'R7827:Map3k1'
| ID |
602279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k1
|
| Ensembl Gene |
ENSMUSG00000021754 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 1 |
| Synonyms |
MEKK1, Mekk |
| MMRRC Submission |
045881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R7827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111882962-111945527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111892663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 864
(V864A)
|
| 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: V864A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: V864A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,651,112 (GRCm39) |
N78S |
probably damaging |
Het |
| Abca12 |
G |
A |
1: 71,453,837 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,887,747 (GRCm39) |
S878P |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,223,814 (GRCm39) |
R1305G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,837,400 (GRCm39) |
C650S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,982,708 (GRCm39) |
K1331* |
probably null |
Het |
| Alpk1 |
A |
T |
3: 127,473,700 (GRCm39) |
S768T |
probably benign |
Het |
| Ap4b1 |
T |
G |
3: 103,722,398 (GRCm39) |
L124R |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,292,038 (GRCm39) |
F3Y |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,547,114 (GRCm39) |
V155A |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,938,013 (GRCm39) |
S87P |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,220,421 (GRCm39) |
M697K |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,022 (GRCm39) |
V32M |
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,753,563 (GRCm39) |
H391R |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,924,294 (GRCm39) |
|
probably null |
Het |
| Dcpp2 |
T |
G |
17: 24,119,566 (GRCm39) |
Y127D |
probably damaging |
Het |
| Def8 |
C |
A |
8: 124,174,060 (GRCm39) |
T7K |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| En2 |
G |
A |
5: 28,371,594 (GRCm39) |
G24S |
probably benign |
Het |
| Evi2a |
T |
C |
11: 79,418,688 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
A |
T |
1: 59,952,837 (GRCm39) |
H172L |
possibly damaging |
Het |
| Fam169b |
A |
G |
7: 67,954,338 (GRCm39) |
I67M |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,861 (GRCm39) |
E416D |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,827,635 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gsg1l2 |
T |
A |
11: 67,676,097 (GRCm39) |
C154S |
probably benign |
Het |
| Hdhd3 |
C |
A |
4: 62,418,232 (GRCm39) |
|
probably benign |
Het |
| Hunk |
C |
T |
16: 90,278,214 (GRCm39) |
P341L |
possibly damaging |
Het |
| Ighv8-5 |
T |
C |
12: 115,031,258 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,331,319 (GRCm39) |
N75D |
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,409,901 (GRCm39) |
E212G |
probably damaging |
Het |
| Ldlrad4 |
A |
G |
18: 68,387,495 (GRCm39) |
H269R |
probably damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,790,049 (GRCm39) |
V102E |
possibly damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,836,655 (GRCm39) |
I1292L |
probably benign |
Het |
| Mad2l1bp |
A |
T |
17: 46,458,993 (GRCm39) |
V179E |
possibly damaging |
Het |
| Mapk8ip2 |
T |
G |
15: 89,342,322 (GRCm39) |
V511G |
probably damaging |
Het |
| Mknk2 |
A |
C |
10: 80,503,021 (GRCm39) |
S434A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,548 (GRCm39) |
F74S |
probably damaging |
Het |
| Muc16 |
G |
T |
9: 18,506,519 (GRCm39) |
T6412K |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,573,403 (GRCm39) |
A518S |
possibly damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,864 (GRCm39) |
F95L |
possibly damaging |
Het |
| Nup98 |
G |
A |
7: 101,773,569 (GRCm39) |
T1586I |
probably benign |
Het |
| Olig3 |
A |
T |
10: 19,232,518 (GRCm39) |
M48L |
probably benign |
Het |
| Or13n4 |
A |
G |
7: 106,422,932 (GRCm39) |
M267T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,234,568 (GRCm39) |
L37* |
probably null |
Het |
| Or5b120 |
T |
G |
19: 13,480,587 (GRCm39) |
N293K |
probably damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,043,765 (GRCm39) |
K314* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,904 (GRCm39) |
D288G |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,790,886 (GRCm39) |
I687V |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,209,659 (GRCm39) |
T2348M |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,835 (GRCm39) |
T291A |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,280,144 (GRCm39) |
V89I |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Pou6f2 |
C |
A |
13: 18,553,092 (GRCm39) |
A81S |
|
Het |
| Ppl |
T |
A |
16: 4,905,828 (GRCm39) |
E1489V |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,264 (GRCm39) |
F792S |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,927,582 (GRCm39) |
Y58H |
probably damaging |
Het |
| Rex2 |
C |
A |
4: 147,142,547 (GRCm39) |
T345N |
possibly damaging |
Het |
| Rnf144a |
T |
C |
12: 26,389,439 (GRCm39) |
M1V |
probably null |
Het |
| Siglec15 |
A |
T |
18: 78,100,445 (GRCm39) |
C13* |
probably null |
Het |
| Skint10 |
G |
A |
4: 112,632,003 (GRCm39) |
Q6* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,304,057 (GRCm39) |
W291R |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,426,366 (GRCm39) |
F378L |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,923,928 (GRCm39) |
T81S |
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,656 (GRCm39) |
N162S |
probably damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,776,607 (GRCm39) |
D256G |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,089,291 (GRCm39) |
S630P |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,611 (GRCm39) |
D199G |
probably benign |
Het |
| Tmed8 |
C |
A |
12: 87,246,991 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
TAA |
TAAAGCAA |
6: 113,376,123 (GRCm39) |
|
probably null |
Het |
| U2af2 |
T |
C |
7: 5,077,661 (GRCm39) |
|
probably null |
Het |
| Ywhag |
C |
T |
5: 135,940,394 (GRCm39) |
E67K |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,808 (GRCm39) |
H493R |
probably damaging |
Het |
| Zfp426 |
A |
T |
9: 20,381,446 (GRCm39) |
C514S |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,269,113 (GRCm39) |
D101V |
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 |
|
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'- TCAGAAATGTCCTCCGAGCTG -3'
(R):5'- AGAAGCTGCTCTCCCTCTTAAC -3'
Sequencing Primer
(F):5'- GGCACTCAGTCTCGTAGCACTTAG -3'
(R):5'- CATTGACAATTCCCACTCGATG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation