Incidental Mutation 'R7824:Map3k21'
ID |
602074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k21
|
Ensembl Gene |
ENSMUSG00000031853 |
Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
Synonyms |
BC021891 |
MMRRC Submission |
045878-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R7824 (G1)
|
Quality Score |
223.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 126637702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 96
(P96R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
AlphaFold |
Q8VDG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034316
AA Change: P96R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000034316 Gene: ENSMUSG00000031853 AA Change: P96R
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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7a |
T |
C |
15: 77,273,275 (GRCm39) |
R396G |
probably damaging |
Het |
Arhgap40 |
A |
T |
2: 158,376,666 (GRCm39) |
R267S |
probably damaging |
Het |
Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
Bub1b |
T |
G |
2: 118,457,448 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,445,936 (GRCm39) |
N148D |
probably benign |
Het |
Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
Ica1l |
T |
G |
1: 60,047,029 (GRCm39) |
M241L |
probably benign |
Het |
Ighg3 |
A |
T |
12: 113,323,426 (GRCm39) |
D283E |
|
Het |
Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
Ism2 |
A |
C |
12: 87,326,634 (GRCm39) |
V435G |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,354,002 (GRCm39) |
H271R |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
Mfge8 |
G |
T |
7: 78,795,135 (GRCm39) |
|
probably null |
Het |
Mical2 |
T |
A |
7: 112,006,844 (GRCm39) |
Y588N |
probably damaging |
Het |
Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,284 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
Or6c5c |
A |
G |
10: 129,298,665 (GRCm39) |
N40S |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,388,295 (GRCm39) |
|
probably null |
Het |
Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
Rin2 |
T |
A |
2: 145,703,037 (GRCm39) |
S533T |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
Sez6 |
T |
C |
11: 77,865,375 (GRCm39) |
S671P |
probably damaging |
Het |
Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
Spata31d1b |
A |
T |
13: 59,865,047 (GRCm39) |
R732W |
possibly damaging |
Het |
Speg |
T |
A |
1: 75,360,661 (GRCm39) |
|
probably null |
Het |
Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,011,746 (GRCm39) |
M476K |
probably benign |
Het |
Tpgs2 |
G |
T |
18: 25,262,922 (GRCm39) |
F232L |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,991,566 (GRCm39) |
H1992Q |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
Vwf |
A |
G |
6: 125,635,778 (GRCm39) |
K270E |
|
Het |
Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
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 |
|
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'- CTTTATGATTACGAAGCGCGC -3'
(R):5'- AGTTGACCAGAACCTGTGGG -3'
Sequencing Primer
(F):5'- CGGTGAGGACGAGCTGAGC -3'
(R):5'- CCCGCAGCTGGATGATGTTG -3'
|
Posted On |
2019-12-03 |