Incidental Mutation 'R5694:Map3k21'
| ID |
443824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k21
|
| Ensembl Gene |
ENSMUSG00000031853 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 21 |
| Synonyms |
BC021891 |
| MMRRC Submission |
043325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
126637189-126674179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126671507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 932
(T932A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034316]
|
| AlphaFold |
Q8VDG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034316
AA Change: T932A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: T932A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,546,673 (GRCm39) |
I1353N |
probably damaging |
Het |
| Actr1a |
C |
A |
19: 46,384,157 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,065,431 (GRCm39) |
M356K |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,971,736 (GRCm39) |
H7R |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,628 (GRCm39) |
V134A |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
C |
4: 65,868,375 (GRCm39) |
D488G |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,303,339 (GRCm39) |
V146E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,027,324 (GRCm39) |
V2144A |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 77,079,701 (GRCm39) |
D15A |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,796,446 (GRCm39) |
A385V |
unknown |
Het |
| Erg |
C |
A |
16: 95,161,890 (GRCm39) |
E388D |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,035,970 (GRCm39) |
I931F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,912,353 (GRCm39) |
L673P |
probably damaging |
Het |
| Gm4922 |
A |
C |
10: 18,660,035 (GRCm39) |
I229S |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Htr7 |
T |
C |
19: 36,034,521 (GRCm39) |
M45V |
probably benign |
Het |
| Hycc1 |
C |
A |
5: 24,196,794 (GRCm39) |
L31F |
probably damaging |
Het |
| Igkv4-51 |
C |
T |
6: 69,658,911 (GRCm39) |
V5M |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,318,730 (GRCm39) |
E156K |
probably damaging |
Het |
| Mapk1 |
T |
G |
16: 16,836,333 (GRCm39) |
D160E |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,910,701 (GRCm39) |
Y479* |
probably null |
Het |
| Meig1 |
T |
A |
2: 3,412,999 (GRCm39) |
K7N |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,985,239 (GRCm39) |
D548E |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,606 (GRCm39) |
R1386G |
probably benign |
Het |
| Nphs2 |
T |
C |
1: 156,153,607 (GRCm39) |
S353P |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,644 (GRCm39) |
F177L |
probably benign |
Het |
| Or8b1 |
T |
A |
9: 38,399,532 (GRCm39) |
I69K |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,131,425 (GRCm39) |
V165L |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,196,228 (GRCm39) |
S305T |
possibly damaging |
Het |
| Phf14 |
C |
A |
6: 11,990,124 (GRCm39) |
L718I |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rab44 |
T |
A |
17: 29,364,940 (GRCm39) |
M645K |
unknown |
Het |
| Rab44 |
T |
C |
17: 29,359,474 (GRCm39) |
L554P |
probably damaging |
Het |
| Rnf222 |
A |
G |
11: 68,783,723 (GRCm39) |
T97A |
probably benign |
Het |
| Rnpepl1 |
T |
C |
1: 92,846,663 (GRCm39) |
S522P |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,825,302 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb10 |
A |
T |
1: 107,463,187 (GRCm39) |
|
probably null |
Het |
| Siglech |
T |
A |
7: 55,418,404 (GRCm39) |
F124Y |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,319,996 (GRCm39) |
I790L |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,637,689 (GRCm39) |
R1007S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,484 (GRCm39) |
T372M |
possibly damaging |
Het |
| Tbc1d10c |
A |
T |
19: 4,234,963 (GRCm39) |
L366H |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,932 (GRCm39) |
T324A |
probably benign |
Het |
| Trim12a |
C |
A |
7: 103,956,450 (GRCm39) |
C30F |
probably damaging |
Het |
| Ttll3 |
G |
A |
6: 113,376,669 (GRCm39) |
V350M |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,218,737 (GRCm39) |
D63E |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,609,526 (GRCm39) |
T590I |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
C |
3: 159,545,624 (GRCm39) |
I16L |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,919 (GRCm39) |
I612M |
probably benign |
Het |
| Zfp677 |
C |
A |
17: 21,618,021 (GRCm39) |
D359E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACTGCTTCAGAAGTCTGTC -3'
(R):5'- GCTGACACATCACGCTCTTC -3'
Sequencing Primer
(F):5'- ACACACTGTCTGACTTGGC -3'
(R):5'- TCTTCACTCTACACAAGGGCATGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation