Incidental Mutation 'R6418:Map3k20'
| ID |
518047 |
| 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 |
044560-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72232457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 371
(M371K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090824
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
| 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 benign
Transcript: ENSMUST00000135469
AA Change: M371K
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: M371K
| 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 |
0.0682 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930507D05Rik |
C |
T |
10: 62,285,441 (GRCm39) |
A55V |
unknown |
Het |
| Adra1b |
T |
G |
11: 43,667,028 (GRCm39) |
D403A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,597,405 (GRCm39) |
L9Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,426,204 (GRCm39) |
S789R |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,482,326 (GRCm39) |
S312P |
probably damaging |
Het |
| C4bp |
C |
T |
1: 130,583,750 (GRCm39) |
V73M |
probably damaging |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,598,019 (GRCm39) |
S189P |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,957,305 (GRCm39) |
N1854K |
probably damaging |
Het |
| Chrm2 |
A |
C |
6: 36,500,674 (GRCm39) |
Y177S |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Csad |
A |
G |
15: 102,087,958 (GRCm39) |
S322P |
probably damaging |
Het |
| Depdc1b |
T |
G |
13: 108,493,956 (GRCm39) |
Y115D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,020,023 (GRCm39) |
Y8C |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,656,817 (GRCm39) |
|
probably null |
Het |
| Elf5 |
A |
G |
2: 103,269,697 (GRCm39) |
T93A |
possibly damaging |
Het |
| Eogt |
C |
T |
6: 97,122,353 (GRCm39) |
D27N |
possibly damaging |
Het |
| Fam118b |
T |
C |
9: 35,146,633 (GRCm39) |
D78G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,166 (GRCm39) |
M470K |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,337,781 (GRCm39) |
T25A |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Golm1 |
T |
C |
13: 59,813,375 (GRCm39) |
Y32C |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,070,207 (GRCm39) |
V238E |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,219,583 (GRCm39) |
R907G |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Krtap24-1 |
C |
T |
16: 88,408,761 (GRCm39) |
V122I |
probably damaging |
Het |
| Lrrc10 |
T |
G |
10: 116,881,616 (GRCm39) |
L97V |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,317 (GRCm39) |
M2K |
possibly damaging |
Het |
| Mob3b |
T |
A |
4: 34,954,049 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,570,607 (GRCm39) |
T556A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,224,032 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
T |
5: 45,839,158 (GRCm39) |
L519F |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,453,778 (GRCm39) |
S265P |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,522,808 (GRCm39) |
F31L |
possibly damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,823 (GRCm39) |
K185R |
probably damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,817 (GRCm39) |
V82A |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,719,514 (GRCm39) |
L280P |
probably damaging |
Het |
| Or8g35 |
C |
A |
9: 39,381,112 (GRCm39) |
K303N |
probably benign |
Het |
| Osgin2 |
T |
C |
4: 16,006,410 (GRCm39) |
T95A |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,858,108 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,879,046 (GRCm39) |
G867D |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,959 (GRCm39) |
S476P |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,623,197 (GRCm39) |
I619T |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,105,256 (GRCm39) |
R343C |
probably damaging |
Het |
| Rab2b |
T |
A |
14: 52,506,164 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,373,092 (GRCm39) |
E972V |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,686,228 (GRCm39) |
C337F |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,751 (GRCm39) |
S393P |
probably damaging |
Het |
| Stkld1 |
A |
T |
2: 26,831,093 (GRCm39) |
N90I |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,053,126 (GRCm39) |
R3406S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,040,171 (GRCm39) |
D48V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,555,081 (GRCm39) |
K268* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,661,326 (GRCm39) |
L618P |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
C |
A |
6: 136,378,099 (GRCm39) |
D244Y |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,899,791 (GRCm39) |
H1101R |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,032,150 (GRCm39) |
V899I |
unknown |
Het |
| Ush2a |
A |
T |
1: 188,360,763 (GRCm39) |
N2161I |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,859,330 (GRCm39) |
D276V |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,915 (GRCm39) |
H279L |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,818,850 (GRCm39) |
R3019W |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,486,361 (GRCm39) |
E423D |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,582 (GRCm39) |
F95I |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,915,763 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
A |
G |
7: 48,461,149 (GRCm39) |
T362A |
possibly damaging |
Het |
| Zfp984 |
C |
T |
4: 147,845,703 (GRCm39) |
S2N |
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 |
|
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 |
|
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'- TGTCCCCTGACTGAAATTGGTAC -3'
(R):5'- TCATGGTCATCATCGTCACC -3'
Sequencing Primer
(F):5'- CCCTGACTGAAATTGGTACTAATTTC -3'
(R):5'- CTTCTGACAGGTCAAAGTCACTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation