Incidental Mutation 'R8008:Map3k20'
| ID |
616721 |
| 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 |
046048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72268613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 540
(Q540L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090824
AA Change: Q540L
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: Q540L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,384 (GRCm39) |
S536P |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,643 (GRCm39) |
V789A |
possibly damaging |
Het |
| Atp5f1b |
C |
A |
10: 127,919,277 (GRCm39) |
Q28K |
unknown |
Het |
| Brpf1 |
T |
C |
6: 113,296,050 (GRCm39) |
V781A |
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,451,774 (GRCm39) |
S414L |
not run |
Het |
| Cimip3 |
T |
A |
17: 47,747,661 (GRCm39) |
E28V |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,370 (GRCm39) |
T192S |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,349 (GRCm39) |
S119T |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,260 (GRCm39) |
N164S |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,818,415 (GRCm39) |
N1390K |
probably damaging |
Het |
| Epn2 |
C |
T |
11: 61,437,492 (GRCm39) |
A27T |
probably damaging |
Het |
| Esp34 |
T |
C |
17: 38,870,490 (GRCm39) |
F128S |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,121,298 (GRCm39) |
N410Y |
probably null |
Het |
| Flnb |
A |
G |
14: 7,892,155 (GRCm38) |
Y608C |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,715 (GRCm39) |
S329P |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,331 (GRCm39) |
N1392I |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,761,817 (GRCm39) |
D160E |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,917,726 (GRCm39) |
N249K |
probably damaging |
Het |
| Gpr87 |
T |
C |
3: 59,087,466 (GRCm39) |
N13S |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,400,243 (GRCm39) |
T323A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,770 (GRCm39) |
I1084T |
probably damaging |
Het |
| Lrfn4 |
C |
G |
19: 4,663,565 (GRCm39) |
G323A |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,460,594 (GRCm39) |
S407C |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,407,057 (GRCm39) |
V1158A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,144,983 (GRCm39) |
D378G |
unknown |
Het |
| Nhsl1 |
T |
A |
10: 18,284,186 (GRCm39) |
D42E |
probably damaging |
Het |
| Nr0b2 |
C |
A |
4: 133,283,339 (GRCm39) |
A192E |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,425,000 (GRCm39) |
D182G |
possibly damaging |
Het |
| Or12d14-ps1 |
T |
C |
17: 37,673,265 (GRCm39) |
S86P |
probably damaging |
Het |
| Or4c115 |
A |
T |
2: 88,928,059 (GRCm39) |
C71S |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,457,170 (GRCm39) |
T131A |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,251 (GRCm39) |
T111A |
probably benign |
Het |
| Or8b12 |
A |
T |
9: 37,658,089 (GRCm39) |
I220F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,126 (GRCm39) |
N250S |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pmp22 |
C |
T |
11: 63,049,233 (GRCm39) |
R159C |
probably damaging |
Het |
| Pou3f1 |
C |
T |
4: 124,552,764 (GRCm39) |
A422V |
unknown |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,829,340 (GRCm39) |
D352G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,671,980 (GRCm39) |
V3420A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,864,082 (GRCm39) |
Y521* |
probably null |
Het |
| Smc4 |
T |
C |
3: 68,914,645 (GRCm39) |
V86A |
probably damaging |
Het |
| Stap2 |
T |
A |
17: 56,304,790 (GRCm39) |
M331L |
probably benign |
Het |
| Syt8 |
G |
A |
7: 141,992,259 (GRCm39) |
R89H |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trim21 |
G |
T |
7: 102,209,183 (GRCm39) |
T280K |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,556 (GRCm39) |
V476F |
probably benign |
Het |
| Troap |
G |
T |
15: 98,973,511 (GRCm39) |
R56L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,667,130 (GRCm39) |
I11492K |
unknown |
Het |
| Tuft1 |
T |
C |
3: 94,521,440 (GRCm39) |
T390A |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,020,640 (GRCm39) |
I150T |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,481 (GRCm39) |
C149S |
possibly damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,665 (GRCm39) |
N122K |
possibly damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,456 (GRCm39) |
C60R |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,128,494 (GRCm39) |
Y85* |
probably null |
Het |
| Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
| Wdr97 |
G |
A |
15: 76,244,832 (GRCm39) |
E1125K |
|
Het |
| Zan |
T |
C |
5: 137,403,624 (GRCm39) |
E3974G |
unknown |
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 |
|
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 |
|
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'- AGGCCTCATTGCTGGTTCTC -3'
Sequencing Primer
(F):5'- GGAGTGTTCCTCTTATTCAAATTCAC -3'
(R):5'- CATTGCTGGTTCTCAGGTCTCAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation