Incidental Mutation 'R1634:Map3k20'
| ID |
172955 |
| 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 |
039671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 72240521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 339
(W339*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090824
AA Change: W339*
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: W339*
| 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 |
probably benign
Transcript: ENSMUST00000135469
|
| SMART Domains |
Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
| Validation Efficiency |
97% (67/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
| Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
| Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
| Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
| Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
| Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
| Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
| Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
| Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
| Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
| Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
| Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
| Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
| Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
| Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
| Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
| Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
| Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
| Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAGGTGAAATGGGTTGTTGCTG -3'
(R):5'- AGCCCTCTCCTAAGGCTTGAAGAC -3'
Sequencing Primer
(F):5'- CGTGGACTGGCTCTGAGAAG -3'
(R):5'- CTCCTAAGGCTTGAAGACCTAGTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation