Incidental Mutation 'R3983:Map3k20'
| ID |
350666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k20
|
| Ensembl Gene |
ENSMUSG00000004085 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 20 |
| Synonyms |
B230120H23Rik, Zak, MLTKalpha, MLTKbeta |
| MMRRC Submission |
040944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3983 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72268571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 526
(T526I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090824
AA Change: T526I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: T526I
| 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 |
|
| Meta Mutation Damage Score |
0.1319 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
| Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
| Chrna2 |
G |
T |
14: 66,386,906 (GRCm39) |
V351L |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
| Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,441,125 (GRCm39) |
R242W |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
| Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
| Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
| Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
| Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,073,059 (GRCm39) |
V164A |
possibly damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,337,996 (GRCm39) |
V646A |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
| Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
| Samhd1 |
C |
A |
2: 156,965,369 (GRCm39) |
V149L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
| Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
| Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
| Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
| Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
| Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
probably benign |
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 |
|
|
IGL02556:Map3k20
|
APN |
2 |
72,202,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAATCCATTATGAGAAAGGGG -3'
(R):5'- TGTCTGAGTTAGGCATCTGAGC -3'
Sequencing Primer
(F):5'- TCCATTATGAGAAAGGGGGTTGG -3'
(R):5'- TCCTCTGCAATGGGAATCTCATAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation