Incidental Mutation 'R6550:Map3k21'
| ID |
521517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k21
|
| Ensembl Gene |
ENSMUSG00000031853 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
| Synonyms |
BC021891 |
| MMRRC Submission |
044675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R6550 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126664031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 531
(S531G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
| AlphaFold |
Q8VDG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034316
AA Change: S531G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: S531G
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
27 |
87 |
1.1e-18 |
SMART |
|
TyrKc
|
110 |
382 |
6.04e-82 |
SMART |
|
coiled coil region
|
402 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
788 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2426 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
A |
G |
2: 22,748,245 (GRCm39) |
D355G |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,380 (GRCm39) |
D433G |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,499,503 (GRCm39) |
T256A |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,266,113 (GRCm39) |
T183S |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,167,477 (GRCm39) |
H1293Y |
possibly damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,358 (GRCm39) |
V243A |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,222,832 (GRCm39) |
F908L |
probably damaging |
Het |
| Cbx2 |
T |
C |
11: 118,919,851 (GRCm39) |
V472A |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,576,977 (GRCm39) |
D110G |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,631,220 (GRCm39) |
D764E |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,874,674 (GRCm39) |
I1321T |
unknown |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,854 (GRCm39) |
Y347* |
probably null |
Het |
| D630044L22Rik |
A |
T |
17: 26,180,628 (GRCm39) |
R66S |
possibly damaging |
Het |
| Defa27 |
A |
C |
8: 21,806,340 (GRCm39) |
R46S |
possibly damaging |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,886 (GRCm39) |
M58V |
probably benign |
Het |
| Efhb |
G |
T |
17: 53,728,968 (GRCm39) |
H574N |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erlin1 |
A |
T |
19: 44,025,602 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
C |
T |
2: 103,896,996 (GRCm39) |
T45I |
possibly damaging |
Het |
| Hsh2d |
C |
A |
8: 72,952,297 (GRCm39) |
T156K |
probably benign |
Het |
| Lrrc49 |
G |
T |
9: 60,584,430 (GRCm39) |
Q139K |
probably benign |
Het |
| Mcm2 |
A |
G |
6: 88,863,941 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
C |
A |
1: 184,551,539 (GRCm39) |
R299L |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,775,482 (GRCm39) |
F1031S |
probably damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2n1d |
C |
T |
17: 38,646,896 (GRCm39) |
P283S |
possibly damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,246,839 (GRCm39) |
V237A |
possibly damaging |
Het |
| Polrmt |
C |
A |
10: 79,575,514 (GRCm39) |
Q672H |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,604 (GRCm39) |
D154G |
probably damaging |
Het |
| Rars1 |
T |
C |
11: 35,724,010 (GRCm39) |
I57V |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,662,082 (GRCm39) |
E257G |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,399,482 (GRCm39) |
P948L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,640,519 (GRCm39) |
V206A |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,666,385 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,299,728 (GRCm39) |
L1200F |
probably damaging |
Het |
| Trir |
G |
T |
8: 85,756,549 (GRCm39) |
V154L |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,101,032 (GRCm39) |
V195A |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,526,685 (GRCm39) |
I96V |
probably benign |
Het |
|
| Other mutations in Map3k21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Map3k21
|
APN |
8 |
126,671,412 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01919:Map3k21
|
APN |
8 |
126,668,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02065:Map3k21
|
APN |
8 |
126,668,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02123:Map3k21
|
APN |
8 |
126,652,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Map3k21
|
APN |
8 |
126,668,886 (GRCm39) |
missense |
probably benign |
|
|
IGL02863:Map3k21
|
APN |
8 |
126,654,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03194:Map3k21
|
APN |
8 |
126,650,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4142001:Map3k21
|
UTSW |
8 |
126,664,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0238:Map3k21
|
UTSW |
8 |
126,671,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0238:Map3k21
|
UTSW |
8 |
126,671,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0454:Map3k21
|
UTSW |
8 |
126,668,858 (GRCm39) |
missense |
probably benign |
|
|
R0654:Map3k21
|
UTSW |
8 |
126,668,759 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1141:Map3k21
|
UTSW |
8 |
126,668,471 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1177:Map3k21
|
UTSW |
8 |
126,671,577 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1463:Map3k21
|
UTSW |
8 |
126,668,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Map3k21
|
UTSW |
8 |
126,668,417 (GRCm39) |
missense |
probably benign |
|
|
R1759:Map3k21
|
UTSW |
8 |
126,671,519 (GRCm39) |
missense |
probably benign |
|
|
R1988:Map3k21
|
UTSW |
8 |
126,654,294 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2058:Map3k21
|
UTSW |
8 |
126,665,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2117:Map3k21
|
UTSW |
8 |
126,650,781 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2157:Map3k21
|
UTSW |
8 |
126,664,005 (GRCm39) |
missense |
probably benign |
|
|
R2436:Map3k21
|
UTSW |
8 |
126,668,354 (GRCm39) |
nonsense |
probably null |
|
|
R2507:Map3k21
|
UTSW |
8 |
126,666,677 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3125:Map3k21
|
UTSW |
8 |
126,668,593 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3746:Map3k21
|
UTSW |
8 |
126,661,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4016:Map3k21
|
UTSW |
8 |
126,637,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Map3k21
|
UTSW |
8 |
126,668,850 (GRCm39) |
missense |
probably benign |
|
|
R4648:Map3k21
|
UTSW |
8 |
126,668,850 (GRCm39) |
missense |
probably benign |
|
|
R4864:Map3k21
|
UTSW |
8 |
126,654,294 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5642:Map3k21
|
UTSW |
8 |
126,665,563 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5694:Map3k21
|
UTSW |
8 |
126,671,507 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5950:Map3k21
|
UTSW |
8 |
126,668,499 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5982:Map3k21
|
UTSW |
8 |
126,638,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Map3k21
|
UTSW |
8 |
126,637,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6664:Map3k21
|
UTSW |
8 |
126,668,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6668:Map3k21
|
UTSW |
8 |
126,652,852 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6788:Map3k21
|
UTSW |
8 |
126,666,605 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7369:Map3k21
|
UTSW |
8 |
126,637,855 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7371:Map3k21
|
UTSW |
8 |
126,661,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7381:Map3k21
|
UTSW |
8 |
126,671,717 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7388:Map3k21
|
UTSW |
8 |
126,654,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Map3k21
|
UTSW |
8 |
126,661,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Map3k21
|
UTSW |
8 |
126,654,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7562:Map3k21
|
UTSW |
8 |
126,665,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7564:Map3k21
|
UTSW |
8 |
126,654,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7824:Map3k21
|
UTSW |
8 |
126,637,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8286:Map3k21
|
UTSW |
8 |
126,637,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Map3k21
|
UTSW |
8 |
126,671,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8451:Map3k21
|
UTSW |
8 |
126,671,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8461:Map3k21
|
UTSW |
8 |
126,671,361 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9005:Map3k21
|
UTSW |
8 |
126,637,471 (GRCm39) |
missense |
|
|
|
R9074:Map3k21
|
UTSW |
8 |
126,664,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9156:Map3k21
|
UTSW |
8 |
126,665,463 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9217:Map3k21
|
UTSW |
8 |
126,638,027 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9474:Map3k21
|
UTSW |
8 |
126,650,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTGAGTCTCTGAGAAGGG -3'
(R):5'- CCAAGGTTGGCTGTTCTTTC -3'
Sequencing Primer
(F):5'- CACATGCCTGAAAGAGTTGCTGTC -3'
(R):5'- CCAAGGTTGGCTGTTCTTTCTATGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation