Incidental Mutation 'IGL02863:Map3k21'
| ID |
362252 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k21
|
| Ensembl Gene |
ENSMUSG00000031853 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
| Synonyms |
BC021891 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL02863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126654280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 366
(E366D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
| AlphaFold |
Q8VDG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034316
AA Change: E366D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: E366D
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,115,026 (GRCm39) |
H640L |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,287,112 (GRCm39) |
Y110* |
probably null |
Het |
| Alk |
T |
A |
17: 72,204,830 (GRCm39) |
E1114V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,287,661 (GRCm39) |
D213E |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,688,564 (GRCm39) |
N164S |
probably benign |
Het |
| Arhgef9 |
G |
A |
X: 94,121,110 (GRCm39) |
R266C |
probably damaging |
Het |
| Armh3 |
T |
A |
19: 45,946,850 (GRCm39) |
N256Y |
probably damaging |
Het |
| Arnt2 |
C |
T |
7: 83,917,145 (GRCm39) |
R483H |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,541 (GRCm39) |
N1517I |
probably benign |
Het |
| Baiap3 |
C |
T |
17: 25,463,476 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,581 (GRCm39) |
V152E |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,051,491 (GRCm39) |
T324A |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,457 (GRCm39) |
T47A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,415,677 (GRCm39) |
S2669G |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,017,250 (GRCm39) |
R1520H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,988,671 (GRCm39) |
C3214R |
probably damaging |
Het |
| Elapor2 |
C |
A |
5: 9,511,399 (GRCm39) |
C920* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,145,176 (GRCm39) |
C2688S |
possibly damaging |
Het |
| Fgf13 |
A |
G |
X: 58,109,029 (GRCm39) |
V201A |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,357,584 (GRCm39) |
L228* |
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,760,006 (GRCm39) |
C39R |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,534 (GRCm39) |
T274A |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,167 (GRCm39) |
L238M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Mgat4e |
C |
T |
1: 134,468,896 (GRCm39) |
E383K |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,224,446 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,223,367 (GRCm39) |
L229Q |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,368,953 (GRCm39) |
L571Q |
probably damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,347,513 (GRCm39) |
M354L |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,696,340 (GRCm39) |
F286S |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,239,428 (GRCm39) |
F253L |
probably damaging |
Het |
| Or10ak9 |
T |
G |
4: 118,726,083 (GRCm39) |
I34S |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,457 (GRCm39) |
S188P |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,120,286 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,243 (GRCm39) |
L1774P |
unknown |
Het |
| Paxip1 |
T |
C |
5: 27,964,393 (GRCm39) |
S729G |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,304,027 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,788,726 (GRCm39) |
G828D |
possibly damaging |
Het |
| Ppp4r3c2 |
C |
T |
X: 88,796,429 (GRCm39) |
P87L |
possibly damaging |
Het |
| Raver1 |
A |
G |
9: 20,987,267 (GRCm39) |
L670P |
probably damaging |
Het |
| Rhd |
A |
G |
4: 134,612,621 (GRCm39) |
I291V |
probably damaging |
Het |
| Rorb |
C |
T |
19: 18,929,617 (GRCm39) |
E377K |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,527,646 (GRCm39) |
I314T |
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,758,322 (GRCm39) |
T841A |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,522,913 (GRCm39) |
L1448H |
probably damaging |
Het |
| Tmc3 |
G |
T |
7: 83,271,494 (GRCm39) |
S882I |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,493 (GRCm39) |
S882C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,582,917 (GRCm39) |
N271D |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,973,096 (GRCm39) |
I759V |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r115 |
G |
T |
17: 23,578,257 (GRCm39) |
V577F |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation