Incidental Mutation 'R9217:Map3k21'
| ID |
699258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k21
|
| Ensembl Gene |
ENSMUSG00000031853 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
| Synonyms |
BC021891 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R9217 (G1)
|
| Quality Score |
149.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126638027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 204
(D204E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
| AlphaFold |
Q8VDG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034316
AA Change: D204E
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: D204E
| 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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,808,967 (GRCm39) |
V98A |
unknown |
Het |
| Abca15 |
A |
T |
7: 119,987,439 (GRCm39) |
M1242L |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,214,090 (GRCm39) |
R576C |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,452,902 (GRCm39) |
S146G |
probably damaging |
Het |
| Aga |
G |
A |
8: 53,966,627 (GRCm39) |
G60S |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,944 (GRCm39) |
V481D |
probably damaging |
Het |
| Ano5 |
C |
A |
7: 51,243,415 (GRCm39) |
P846Q |
probably damaging |
Het |
| Ccdc62 |
C |
A |
5: 124,092,470 (GRCm39) |
T485K |
probably benign |
Het |
| Cd177 |
A |
T |
7: 24,445,550 (GRCm39) |
I631K |
possibly damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,411 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,717,441 (GRCm39) |
S1283P |
probably damaging |
Het |
| Cpt1a |
G |
A |
19: 3,425,111 (GRCm39) |
V493I |
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,138,028 (GRCm39) |
D97E |
probably benign |
Het |
| Decr1 |
G |
A |
4: 15,930,969 (GRCm39) |
P121L |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,578 (GRCm39) |
L661Q |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,085,972 (GRCm39) |
M156V |
possibly damaging |
Het |
| Ermn |
A |
T |
2: 57,938,010 (GRCm39) |
I201K |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,045,663 (GRCm39) |
C6R |
probably benign |
Het |
| Evx2 |
A |
T |
2: 74,488,109 (GRCm39) |
|
probably null |
Het |
| Fam222a |
T |
C |
5: 114,748,905 (GRCm39) |
S34P |
probably benign |
Het |
| Fmo6 |
A |
T |
1: 162,748,046 (GRCm39) |
D339E |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,923,873 (GRCm39) |
S142P |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,625,033 (GRCm39) |
Q75L |
probably damaging |
Het |
| Gucy2e |
C |
T |
11: 69,126,778 (GRCm39) |
A232T |
possibly damaging |
Het |
| Haspin |
A |
T |
11: 73,026,936 (GRCm39) |
C718S |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Jph1 |
T |
A |
1: 17,167,632 (GRCm39) |
Q66L |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,944 (GRCm39) |
D206Y |
possibly damaging |
Het |
| Klf14 |
T |
C |
6: 30,935,470 (GRCm39) |
T55A |
probably benign |
Het |
| Lclat1 |
T |
C |
17: 73,494,879 (GRCm39) |
M125T |
probably damaging |
Het |
| Lgr5 |
T |
A |
10: 115,423,349 (GRCm39) |
Q17L |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,361 (GRCm39) |
I64V |
unknown |
Het |
| Lrrc15 |
A |
G |
16: 30,092,415 (GRCm39) |
L308P |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,871,245 (GRCm39) |
Q2661K |
probably benign |
Het |
| Msln |
T |
C |
17: 25,970,125 (GRCm39) |
I277V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,835,138 (GRCm39) |
T1389M |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,268 (GRCm39) |
Y132C |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,901,723 (GRCm39) |
|
probably null |
Het |
| Plce1 |
C |
T |
19: 38,748,551 (GRCm39) |
R1761C |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,103,414 (GRCm39) |
L964P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,656,564 (GRCm39) |
S84P |
possibly damaging |
Het |
| Rffl |
T |
C |
11: 82,703,633 (GRCm39) |
T97A |
possibly damaging |
Het |
| Riok2 |
G |
C |
17: 17,598,057 (GRCm39) |
G48A |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,617,331 (GRCm39) |
M488T |
probably benign |
Het |
| Setdb2 |
C |
T |
14: 59,646,881 (GRCm39) |
D545N |
possibly damaging |
Het |
| Slc39a4 |
T |
A |
15: 76,498,126 (GRCm39) |
H400L |
possibly damaging |
Het |
| St7 |
T |
A |
6: 17,846,271 (GRCm39) |
F175I |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,299,324 (GRCm39) |
D977V |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,534,646 (GRCm39) |
T1801I |
probably damaging |
Het |
| Terf1 |
C |
T |
1: 15,883,295 (GRCm39) |
T136I |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,381 (GRCm39) |
S42G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,822 (GRCm39) |
V287A |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,230,467 (GRCm39) |
I870K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,574,389 (GRCm39) |
N25501K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,485,715 (GRCm39) |
W1662R |
probably damaging |
Het |
| Wdr47 |
T |
A |
3: 108,525,890 (GRCm39) |
C138S |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,408,298 (GRCm39) |
S6P |
probably damaging |
Het |
| Zfp668 |
A |
C |
7: 127,465,804 (GRCm39) |
L460* |
probably null |
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 |
|
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 |
|
R9474:Map3k21
|
UTSW |
8 |
126,650,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGCACGTAGACTTCGAG -3'
(R):5'- CCTAATTCCCTTGGGGCTAG -3'
Sequencing Primer
(F):5'- TAGACTTCGAGCGCCTGGAG -3'
(R):5'- GGGCTAGCCTCACTTACTGTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation