Incidental Mutation 'R7388:Map3k21'
| ID |
573261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k21
|
| Ensembl Gene |
ENSMUSG00000031853 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
| Synonyms |
BC021891 |
| MMRRC Submission |
045470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R7388 (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 C
at 126654336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 385
(I385T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
| AlphaFold |
Q8VDG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034316
AA Change: I385T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: I385T
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
C |
18: 67,556,023 (GRCm39) |
E436G |
probably damaging |
Het |
| Agbl5 |
T |
A |
5: 31,060,583 (GRCm39) |
L759* |
probably null |
Het |
| Ankrd13b |
T |
C |
11: 77,363,583 (GRCm39) |
D460G |
probably benign |
Het |
| Apol10a |
A |
G |
15: 77,373,225 (GRCm39) |
D287G |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,094 (GRCm39) |
Y391* |
probably null |
Het |
| Asz1 |
G |
T |
6: 18,074,900 (GRCm39) |
S271R |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,170 (GRCm39) |
N325D |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,082,579 (GRCm39) |
L247Q |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,036,850 (GRCm39) |
D1704G |
unknown |
Het |
| Cdk5rap1 |
G |
A |
2: 154,202,595 (GRCm39) |
R212W |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,167,318 (GRCm39) |
T444S |
probably benign |
Het |
| Cers2 |
T |
G |
3: 95,228,656 (GRCm39) |
F160V |
probably benign |
Het |
| Cfap276 |
T |
C |
3: 108,450,815 (GRCm39) |
F86L |
possibly damaging |
Het |
| Cga |
T |
A |
4: 34,907,076 (GRCm39) |
M99K |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,135,572 (GRCm39) |
R138* |
probably null |
Het |
| Dao |
T |
G |
5: 114,153,273 (GRCm39) |
*133E |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,275,456 (GRCm39) |
C544S |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,806,112 (GRCm39) |
V98E |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,169,300 (GRCm39) |
T434S |
possibly damaging |
Het |
| Dntt |
A |
G |
19: 41,027,418 (GRCm39) |
N162D |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,902,805 (GRCm39) |
V79A |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,611,871 (GRCm39) |
L571P |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,532,567 (GRCm39) |
C1602R |
unknown |
Het |
| Flrt3 |
C |
T |
2: 140,503,672 (GRCm39) |
|
probably null |
Het |
| Gk2 |
A |
G |
5: 97,604,757 (GRCm39) |
V27A |
probably damaging |
Het |
| Gnpat |
T |
G |
8: 125,614,553 (GRCm39) |
M663R |
probably benign |
Het |
| Hc |
A |
T |
2: 34,874,859 (GRCm39) |
|
probably null |
Het |
| Il12rb1 |
A |
G |
8: 71,263,271 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ints15 |
G |
A |
5: 143,297,600 (GRCm39) |
A149V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,385 (GRCm39) |
D1229N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,124,822 (GRCm39) |
T650A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,419,766 (GRCm39) |
R948* |
probably null |
Het |
| Mmrn1 |
T |
A |
6: 60,953,236 (GRCm39) |
S506T |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,023 (GRCm39) |
F409S |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,455,892 (GRCm39) |
I896N |
probably benign |
Het |
| Noxred1 |
C |
A |
12: 87,273,799 (GRCm39) |
V81L |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,645,272 (GRCm39) |
I1225F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,481 (GRCm39) |
C98Y |
probably damaging |
Het |
| Otos |
T |
A |
1: 92,572,241 (GRCm39) |
|
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,706,103 (GRCm39) |
I399T |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,309,528 (GRCm39) |
V2807I |
not run |
Het |
| Prrx2 |
A |
G |
2: 30,770,902 (GRCm39) |
E235G |
probably damaging |
Het |
| Rab13 |
T |
C |
3: 90,128,327 (GRCm39) |
I41T |
probably damaging |
Het |
| Rai1 |
A |
C |
11: 60,080,201 (GRCm39) |
T1422P |
possibly damaging |
Het |
| Rcn1 |
C |
T |
2: 105,222,336 (GRCm39) |
V217M |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,518,998 (GRCm39) |
V408E |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,318,376 (GRCm39) |
A121T |
|
Het |
| Slc35d1 |
A |
G |
4: 103,046,982 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
A |
T |
18: 24,717,106 (GRCm39) |
V642E |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,841,203 (GRCm39) |
A69V |
probably benign |
Het |
| Spink6 |
A |
T |
18: 44,215,386 (GRCm39) |
T79S |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,652,950 (GRCm39) |
D170G |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,505,269 (GRCm39) |
S79P |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,934,167 (GRCm39) |
Y201H |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,155,858 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
C |
T |
1: 21,299,735 (GRCm39) |
Q122* |
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt61a |
A |
G |
12: 111,645,321 (GRCm39) |
I86V |
possibly damaging |
Het |
| Tubgcp4 |
G |
A |
2: 121,020,447 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,668 (GRCm39) |
Y183* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,742 (GRCm39) |
W112R |
probably benign |
Het |
| Vpreb1a |
T |
C |
16: 16,686,516 (GRCm39) |
K125E |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,451,971 (GRCm39) |
F637L |
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 |
|
|
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 |
|
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'- CTTAGGATTTCCAGGAGCCG -3'
(R):5'- TGACCATGTATGTACTGGGATG -3'
Sequencing Primer
(F):5'- GATTTCCAGGAGCCGACACC -3'
(R):5'- CATGTATGTACTGTGCAGTGAAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation