Incidental Mutation 'R8286:Map3k21'
ID |
638462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k21
|
Ensembl Gene |
ENSMUSG00000031853 |
Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
Synonyms |
BC021891 |
MMRRC Submission |
067708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R8286 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126637498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 28
(M28K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
AlphaFold |
Q8VDG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034316
AA Change: M28K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000034316 Gene: ENSMUSG00000031853 AA Change: M28K
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
T |
5: 8,914,119 (GRCm39) |
Y1163F |
probably damaging |
Het |
Abcd4 |
A |
G |
12: 84,649,920 (GRCm39) |
V589A |
probably benign |
Het |
Adam26b |
T |
A |
8: 43,972,998 (GRCm39) |
N668I |
probably benign |
Het |
Atp2b2 |
T |
C |
6: 113,819,275 (GRCm39) |
N6S |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,392,063 (GRCm39) |
Y468C |
probably damaging |
Het |
Cngb1 |
A |
T |
8: 96,002,252 (GRCm39) |
V52D |
|
Het |
Cped1 |
A |
T |
6: 22,254,601 (GRCm39) |
Y998F |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,039,188 (GRCm39) |
V2390A |
probably benign |
Het |
Ctsj |
A |
T |
13: 61,148,330 (GRCm39) |
C321* |
probably null |
Het |
Dip2a |
A |
C |
10: 76,122,297 (GRCm39) |
I139S |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,559,248 (GRCm39) |
I937V |
probably damaging |
Het |
Eif1 |
A |
G |
11: 100,210,795 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,711,087 (GRCm39) |
I662T |
probably benign |
Het |
Flt4 |
A |
G |
11: 49,528,089 (GRCm39) |
R971G |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,879,928 (GRCm39) |
T1294A |
probably damaging |
Het |
Herc2 |
T |
G |
7: 55,879,410 (GRCm39) |
V4676G |
possibly damaging |
Het |
Hif1a |
A |
G |
12: 73,992,022 (GRCm39) |
|
probably benign |
Het |
Icam5 |
C |
A |
9: 20,946,822 (GRCm39) |
A450E |
possibly damaging |
Het |
Mars1 |
C |
A |
10: 127,141,348 (GRCm39) |
R347L |
probably benign |
Het |
Mctp1 |
A |
T |
13: 76,905,174 (GRCm39) |
I426F |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,731,960 (GRCm39) |
S3007P |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,998,149 (GRCm39) |
R65G |
possibly damaging |
Het |
Ncald |
G |
T |
15: 37,397,505 (GRCm39) |
Y58* |
probably null |
Het |
Neil2 |
A |
T |
14: 63,426,154 (GRCm39) |
I72K |
probably benign |
Het |
Or8b35 |
C |
A |
9: 37,904,401 (GRCm39) |
Y204* |
probably null |
Het |
Or8k23 |
A |
G |
2: 86,186,691 (GRCm39) |
F12L |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,154,189 (GRCm39) |
D1086G |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,870 (GRCm39) |
T1087A |
probably damaging |
Het |
Prpf39 |
A |
G |
12: 65,103,132 (GRCm39) |
M469V |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,444,323 (GRCm39) |
S905C |
probably damaging |
Het |
Rassf5 |
T |
C |
1: 131,140,067 (GRCm39) |
D164G |
possibly damaging |
Het |
Setd1a |
T |
C |
7: 127,385,356 (GRCm39) |
W688R |
possibly damaging |
Het |
Sfswap |
C |
T |
5: 129,616,783 (GRCm39) |
T409I |
probably damaging |
Het |
Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
Slfn9 |
G |
C |
11: 82,872,095 (GRCm39) |
N880K |
probably damaging |
Het |
Sprr1b |
T |
C |
3: 92,344,720 (GRCm39) |
K52R |
probably benign |
Het |
Tfb2m |
T |
C |
1: 179,356,770 (GRCm39) |
D388G |
probably damaging |
Het |
Tmem234 |
T |
C |
4: 129,500,881 (GRCm39) |
|
probably benign |
Het |
Traj43 |
A |
G |
14: 54,412,201 (GRCm39) |
N1D |
|
Het |
Trmt1l |
T |
A |
1: 151,333,543 (GRCm39) |
I682N |
probably damaging |
Het |
Trp53rka |
T |
C |
2: 165,333,445 (GRCm39) |
D148G |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,285,855 (GRCm39) |
V440A |
probably benign |
Het |
Vxn |
C |
T |
1: 9,683,613 (GRCm39) |
T67I |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,085,287 (GRCm39) |
V736I |
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 |
R6550:Map3k21
|
UTSW |
8 |
126,664,031 (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 |
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'- GTTAGCTCGGACCGATGATACG -3'
(R):5'- CTCGAAGTCTACGTGCACAG -3'
Sequencing Primer
(F):5'- ATGATACGCGTCGCTGGAGAC -3'
(R):5'- AGTCTACGTGCACAGGCGAG -3'
|
Posted On |
2020-07-28 |