Incidental Mutation 'IGL01472:Map3k20'
| ID |
88330 |
| 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 # |
IGL01472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 72185897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
[ENSMUST00000144111]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000121019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135204
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144111
|
| SMART Domains |
Protein: ENSMUSP00000119340
Gene: ENSMUSG00000004085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
16 |
75 |
3.1e-9 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
75 |
7.1e-9 |
PFAM |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
G |
A |
7: 119,153,759 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,419 (GRCm39) |
F324S |
probably damaging |
Het |
| Alg10b |
T |
A |
15: 90,111,900 (GRCm39) |
L248Q |
possibly damaging |
Het |
| Antxr2 |
T |
A |
5: 98,175,358 (GRCm39) |
T90S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,854,392 (GRCm39) |
E1657K |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,094,175 (GRCm39) |
D803A |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,159,795 (GRCm39) |
D185G |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,950 (GRCm39) |
S62P |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,861,477 (GRCm39) |
Q599R |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,309,439 (GRCm39) |
V231I |
probably damaging |
Het |
| Cnbd2 |
C |
T |
2: 156,217,268 (GRCm39) |
R457W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,649,625 (GRCm39) |
T1036A |
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,382,629 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,732,104 (GRCm39) |
Y237* |
probably null |
Het |
| Cpne9 |
C |
A |
6: 113,269,983 (GRCm39) |
S281Y |
possibly damaging |
Het |
| D830013O20Rik |
G |
A |
12: 73,411,090 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
| Fam228a |
A |
G |
12: 4,765,610 (GRCm39) |
I267T |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,219 (GRCm39) |
A371T |
probably damaging |
Het |
| Gm1818 |
T |
C |
12: 48,603,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
T |
C |
7: 40,935,498 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,361,642 (GRCm39) |
L207I |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,250,226 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,396,150 (GRCm39) |
E35K |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,455,216 (GRCm39) |
I194V |
probably benign |
Het |
| Ism1 |
A |
T |
2: 139,599,223 (GRCm39) |
T392S |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,027,376 (GRCm39) |
Y313C |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,585,988 (GRCm39) |
C718R |
probably damaging |
Het |
| Lyar |
T |
G |
5: 38,382,066 (GRCm39) |
I16R |
possibly damaging |
Het |
| Mtus1 |
T |
C |
8: 41,455,449 (GRCm39) |
T941A |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,179,205 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,524 (GRCm39) |
D1482G |
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,071,133 (GRCm39) |
A534D |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,940,986 (GRCm39) |
V269A |
probably damaging |
Het |
| Odf2 |
T |
A |
2: 29,783,071 (GRCm39) |
S5T |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,322 (GRCm39) |
T135S |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,411 (GRCm39) |
S137P |
probably benign |
Het |
| Or9s27 |
T |
A |
1: 92,516,694 (GRCm39) |
M214K |
possibly damaging |
Het |
| Pbk |
A |
G |
14: 66,054,159 (GRCm39) |
T235A |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,836,403 (GRCm39) |
|
probably benign |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,374,802 (GRCm39) |
Y578F |
probably benign |
Het |
| Prph |
T |
C |
15: 98,956,474 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,502,593 (GRCm39) |
V3527A |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,141,652 (GRCm39) |
L244P |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,706,521 (GRCm39) |
V96A |
probably benign |
Het |
| Tbc1d4 |
C |
A |
14: 101,727,300 (GRCm39) |
E504* |
probably null |
Het |
| Tmed3 |
T |
C |
9: 89,584,928 (GRCm39) |
E109G |
probably benign |
Het |
| Tnc |
C |
T |
4: 63,924,656 (GRCm39) |
R1014H |
probably benign |
Het |
| Tpcn2 |
C |
T |
7: 144,821,115 (GRCm39) |
R313Q |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,835,381 (GRCm39) |
T455A |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,525,908 (GRCm39) |
I313T |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,159 (GRCm39) |
I86K |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,364,180 (GRCm39) |
E579* |
probably null |
Het |
| Wrn |
T |
A |
8: 33,819,200 (GRCm39) |
I8F |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,396 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,323,117 (GRCm39) |
H876Q |
probably benign |
Het |
| Znrf2 |
C |
T |
6: 54,840,957 (GRCm39) |
T177I |
probably 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 |
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation