Incidental Mutation 'IGL02556:Map3k20'
| ID |
298517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k20
|
| Ensembl Gene |
ENSMUSG00000004085 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 20 |
| Synonyms |
B230120H23Rik, Zak, MLTKalpha, MLTKbeta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72202239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 157
(F157I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090824
AA Change: F157I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: F157I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
16 |
259 |
6.3e-56 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
260 |
9.9e-64 |
PFAM |
|
coiled coil region
|
277 |
328 |
N/A |
INTRINSIC |
|
SAM
|
336 |
410 |
5.59e-7 |
SMART |
|
low complexity region
|
643 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112073
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135469
AA Change: F157I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: F157I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
16 |
259 |
1.1e-59 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
260 |
7.6e-65 |
PFAM |
|
coiled coil region
|
277 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150126
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality at E9.5 with growth retardation. Mice homozygous for an allele lacking the SAM domain exhibit low penetrant unilateral complex hindlimb duplication phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
G |
10: 100,446,579 (GRCm39) |
|
probably null |
Het |
| Ace |
A |
G |
11: 105,863,353 (GRCm39) |
D376G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,458,654 (GRCm39) |
T1252I |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,774,008 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,425,186 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,065 (GRCm39) |
T37A |
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,899,400 (GRCm39) |
V18I |
probably benign |
Het |
| Cryl1 |
C |
T |
14: 57,513,478 (GRCm39) |
V248M |
probably benign |
Het |
| D830039M14Rik |
C |
T |
10: 61,311,262 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,331,128 (GRCm39) |
T107A |
possibly damaging |
Het |
| Efna5 |
C |
A |
17: 62,958,023 (GRCm39) |
V78F |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,503,625 (GRCm39) |
I741V |
probably benign |
Het |
| Gfap |
A |
G |
11: 102,787,780 (GRCm39) |
L55P |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,669,027 (GRCm39) |
I606V |
probably benign |
Het |
| Kif2c |
G |
T |
4: 117,019,802 (GRCm39) |
D579E |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,988,442 (GRCm39) |
|
probably null |
Het |
| Lrrc1 |
T |
A |
9: 77,342,404 (GRCm39) |
I357L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,109 (GRCm39) |
S2620P |
probably benign |
Het |
| Naga |
A |
T |
15: 82,214,337 (GRCm39) |
N391K |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,968,025 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
C |
A |
14: 50,856,185 (GRCm39) |
Q169K |
probably benign |
Het |
| Or12d13 |
T |
A |
17: 37,647,887 (GRCm39) |
M79L |
probably benign |
Het |
| Or5ae1 |
T |
G |
7: 84,565,567 (GRCm39) |
Y193* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,598 (GRCm39) |
I182F |
possibly damaging |
Het |
| Or6c2b |
T |
G |
10: 128,947,904 (GRCm39) |
Y130S |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,784,906 (GRCm39) |
C112S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,074,863 (GRCm39) |
D472E |
possibly damaging |
Het |
| Pdxk |
G |
A |
10: 78,287,319 (GRCm39) |
L81F |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,380,934 (GRCm39) |
T2635K |
probably damaging |
Het |
| Psmb6 |
A |
T |
11: 70,417,248 (GRCm39) |
H99L |
possibly damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,705,623 (GRCm39) |
G135E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,972,844 (GRCm39) |
D251E |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,234 (GRCm39) |
V1955A |
possibly damaging |
Het |
| Rsph4a |
T |
C |
10: 33,781,148 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
T |
C |
14: 40,542,700 (GRCm39) |
T359A |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,087 (GRCm39) |
D348G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,797,932 (GRCm39) |
M217K |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,711,054 (GRCm39) |
L49P |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,956,173 (GRCm39) |
M288I |
probably benign |
Het |
| Tmem127 |
C |
A |
2: 127,097,922 (GRCm39) |
|
probably null |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,811 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,967 (GRCm39) |
N341I |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,692 (GRCm39) |
I1453T |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,944,709 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,880,216 (GRCm39) |
|
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,827,119 (GRCm39) |
A144V |
possibly damaging |
Het |
|
| Other mutations in Map3k20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Map3k20
|
APN |
2 |
72,242,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00333:Map3k20
|
APN |
2 |
72,202,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00505:Map3k20
|
APN |
2 |
72,219,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Map3k20
|
APN |
2 |
72,185,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL01982:Map3k20
|
APN |
2 |
72,128,677 (GRCm39) |
nonsense |
probably null |
|
|
IGL02831:Map3k20
|
APN |
2 |
72,202,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Map3k20
|
UTSW |
2 |
72,242,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Map3k20
|
UTSW |
2 |
72,202,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Map3k20
|
UTSW |
2 |
72,271,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Map3k20
|
UTSW |
2 |
72,219,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1406:Map3k20
|
UTSW |
2 |
72,219,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1509:Map3k20
|
UTSW |
2 |
72,194,968 (GRCm39) |
splice site |
probably benign |
|
|
R1634:Map3k20
|
UTSW |
2 |
72,240,521 (GRCm39) |
nonsense |
probably null |
|
|
R1723:Map3k20
|
UTSW |
2 |
72,219,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Map3k20
|
UTSW |
2 |
72,271,638 (GRCm39) |
nonsense |
probably null |
|
|
R2014:Map3k20
|
UTSW |
2 |
72,268,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2086:Map3k20
|
UTSW |
2 |
72,228,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2311:Map3k20
|
UTSW |
2 |
72,198,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Map3k20
|
UTSW |
2 |
72,263,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3150:Map3k20
|
UTSW |
2 |
72,202,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3781:Map3k20
|
UTSW |
2 |
72,232,699 (GRCm39) |
intron |
probably benign |
|
|
R3950:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3952:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3981:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3982:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3983:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4011:Map3k20
|
UTSW |
2 |
72,214,468 (GRCm39) |
splice site |
probably benign |
|
|
R4180:Map3k20
|
UTSW |
2 |
72,271,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4790:Map3k20
|
UTSW |
2 |
72,272,048 (GRCm39) |
missense |
probably benign |
|
|
R4895:Map3k20
|
UTSW |
2 |
72,232,700 (GRCm39) |
intron |
probably benign |
|
|
R4943:Map3k20
|
UTSW |
2 |
72,202,262 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4983:Map3k20
|
UTSW |
2 |
72,232,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5023:Map3k20
|
UTSW |
2 |
72,232,689 (GRCm39) |
intron |
probably benign |
|
|
R5157:Map3k20
|
UTSW |
2 |
72,268,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5703:Map3k20
|
UTSW |
2 |
72,232,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6134:Map3k20
|
UTSW |
2 |
72,240,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6322:Map3k20
|
UTSW |
2 |
72,263,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6418:Map3k20
|
UTSW |
2 |
72,232,457 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6449:Map3k20
|
UTSW |
2 |
72,228,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Map3k20
|
UTSW |
2 |
72,198,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Map3k20
|
UTSW |
2 |
72,272,253 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7016:Map3k20
|
UTSW |
2 |
72,208,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Map3k20
|
UTSW |
2 |
72,271,758 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7319:Map3k20
|
UTSW |
2 |
72,195,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Map3k20
|
UTSW |
2 |
72,232,348 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7641:Map3k20
|
UTSW |
2 |
72,228,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Map3k20
|
UTSW |
2 |
72,268,658 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7698:Map3k20
|
UTSW |
2 |
72,195,025 (GRCm39) |
nonsense |
probably null |
|
|
R7872:Map3k20
|
UTSW |
2 |
72,202,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8008:Map3k20
|
UTSW |
2 |
72,268,613 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8551:Map3k20
|
UTSW |
2 |
72,232,704 (GRCm39) |
intron |
probably benign |
|
|
R8861:Map3k20
|
UTSW |
2 |
72,219,811 (GRCm39) |
splice site |
probably benign |
|
|
R9284:Map3k20
|
UTSW |
2 |
72,228,755 (GRCm39) |
nonsense |
probably null |
|
|
R9300:Map3k20
|
UTSW |
2 |
72,202,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Map3k20
|
UTSW |
2 |
72,272,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9635:Map3k20
|
UTSW |
2 |
72,232,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9642:Map3k20
|
UTSW |
2 |
72,272,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Map3k20
|
UTSW |
2 |
72,128,659 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation