Incidental Mutation 'R8305:Map3k19'
| ID |
640974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
067716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127815253-127855031 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127817270 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1177
(E1177D)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061512
AA Change: E1278D
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: E1278D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
964 |
N/A |
INTRINSIC |
|
S_TKc
|
1044 |
1307 |
3.18e-90 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: E1177D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
|
S_TKc
|
933 |
1196 |
1.5e-92 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: E433D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
S_TKc
|
216 |
452 |
4.8e-15 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: E481D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
S_TKc
|
237 |
500 |
1.5e-92 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208183
AA Change: E1482D
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 63,971,395 (GRCm38) |
E243K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,866,078 (GRCm38) |
H58Q |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,744 (GRCm38) |
F90L |
probably benign |
Het |
| Adam5 |
G |
A |
8: 24,810,703 (GRCm38) |
A270V |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 99,031,311 (GRCm38) |
T103A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,647,166 (GRCm38) |
L1757P |
possibly damaging |
Het |
| Apoa4 |
T |
A |
9: 46,241,155 (GRCm38) |
M1K |
probably null |
Het |
| Arih1 |
T |
A |
9: 59,396,487 (GRCm38) |
Q445L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,912,097 (GRCm38) |
I420L |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,074,325 (GRCm38) |
V626G |
probably damaging |
Het |
| Cep290 |
C |
A |
10: 100,544,934 (GRCm38) |
A1678D |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,279,004 (GRCm38) |
G794S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,759,166 (GRCm38) |
|
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,825,937 (GRCm38) |
N702I |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,474,182 (GRCm38) |
V1143A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,360,009 (GRCm38) |
T223A |
probably benign |
Het |
| Defa30 |
A |
T |
8: 21,135,459 (GRCm38) |
T80S |
probably benign |
Het |
| Dennd1a |
G |
A |
2: 37,858,081 (GRCm38) |
L375F |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,623,787 (GRCm38) |
T675I |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,585,099 (GRCm38) |
V4A |
probably damaging |
Het |
| Enpp3 |
C |
G |
10: 24,824,929 (GRCm38) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 59,913,623 (GRCm38) |
T154A |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,820,475 (GRCm38) |
Y287* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,348,054 (GRCm38) |
D751G |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,999,989 (GRCm38) |
Q572L |
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm38) |
|
probably benign |
Het |
| Gm7356 |
T |
A |
17: 14,001,437 (GRCm38) |
Y110F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,733,860 (GRCm38) |
K233R |
probably benign |
Het |
| Igkv9-129 |
A |
T |
6: 67,840,222 (GRCm38) |
E103D |
probably benign |
Het |
| Igsf11 |
C |
A |
16: 39,007,224 (GRCm38) |
T48N |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 27,214,519 (GRCm38) |
Y506N |
probably damaging |
Het |
| Kat2a |
A |
C |
11: 100,709,478 (GRCm38) |
M357R |
possibly damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,618,150 (GRCm38) |
R233G |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,726,198 (GRCm38) |
C563* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 25,891,990 (GRCm38) |
V456A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,825 (GRCm38) |
V45A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,395,621 (GRCm38) |
|
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,725,107 (GRCm38) |
L2575F |
probably benign |
Het |
| Mga |
T |
A |
2: 119,946,319 (GRCm38) |
M1569K |
possibly damaging |
Het |
| Mvk |
T |
C |
5: 114,450,779 (GRCm38) |
Y161H |
probably damaging |
Het |
| Olfr119 |
T |
A |
17: 37,701,498 (GRCm38) |
M276K |
probably benign |
Het |
| Olfr134 |
C |
A |
17: 38,175,573 (GRCm38) |
T163K |
probably damaging |
Het |
| Olfr301 |
G |
T |
7: 86,412,779 (GRCm38) |
C139F |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,450,022 (GRCm38) |
V727E |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,910,409 (GRCm38) |
V167G |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,115,221 (GRCm38) |
D146G |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,211,065 (GRCm38) |
G879R |
possibly damaging |
Het |
| Prss58 |
C |
T |
6: 40,895,660 (GRCm38) |
A171T |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,771,920 (GRCm38) |
I1016V |
probably benign |
Het |
| Rbm43 |
A |
G |
2: 51,926,700 (GRCm38) |
V85A |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,876,995 (GRCm38) |
D287E |
probably damaging |
Het |
| RP23-56A14.9 |
A |
G |
7: 142,135,623 (GRCm38) |
C138R |
unknown |
Het |
| Rptor |
T |
A |
11: 119,811,986 (GRCm38) |
L393Q |
probably damaging |
Het |
| Sbf2 |
T |
G |
7: 110,371,618 (GRCm38) |
H857P |
possibly damaging |
Het |
| Scn8a |
A |
C |
15: 101,040,506 (GRCm38) |
T1919P |
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,127,084 (GRCm38) |
G377E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 56,155,240 (GRCm38) |
D436E |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,473,585 (GRCm38) |
I535F |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,729,130 (GRCm38) |
S281T |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,254,931 (GRCm38) |
I392M |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,226,436 (GRCm38) |
V201A |
possibly damaging |
Het |
| Timm10b |
T |
C |
7: 105,640,669 (GRCm38) |
|
probably benign |
Het |
| Ttc23 |
A |
C |
7: 67,662,387 (GRCm38) |
D14A |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 85,032,185 (GRCm38) |
L636I |
possibly damaging |
Het |
| Vgll4 |
G |
T |
6: 114,890,652 (GRCm38) |
H79Q |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 145,092,288 (GRCm38) |
I3047T |
|
Het |
| Zan |
T |
C |
5: 137,450,551 (GRCm38) |
E1680G |
unknown |
Het |
|
| Other mutations in Map3k19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Map3k19
|
APN |
1 |
127,824,331 (GRCm38) |
nonsense |
probably null |
|
|
IGL01367:Map3k19
|
APN |
1 |
127,824,351 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01443:Map3k19
|
APN |
1 |
127,838,507 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL01481:Map3k19
|
APN |
1 |
127,822,478 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01530:Map3k19
|
APN |
1 |
127,822,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01603:Map3k19
|
APN |
1 |
127,830,273 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02044:Map3k19
|
APN |
1 |
127,823,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02159:Map3k19
|
APN |
1 |
127,823,170 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02296:Map3k19
|
APN |
1 |
127,824,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02349:Map3k19
|
APN |
1 |
127,823,769 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02823:Map3k19
|
APN |
1 |
127,822,264 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02965:Map3k19
|
APN |
1 |
127,824,066 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03137:Map3k19
|
APN |
1 |
127,824,315 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0125:Map3k19
|
UTSW |
1 |
127,823,100 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0265:Map3k19
|
UTSW |
1 |
127,822,182 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0389:Map3k19
|
UTSW |
1 |
127,822,415 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0443:Map3k19
|
UTSW |
1 |
127,822,415 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0465:Map3k19
|
UTSW |
1 |
127,838,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0645:Map3k19
|
UTSW |
1 |
127,822,182 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0759:Map3k19
|
UTSW |
1 |
127,817,425 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0815:Map3k19
|
UTSW |
1 |
127,834,638 (GRCm38) |
splice site |
probably benign |
|
|
R0838:Map3k19
|
UTSW |
1 |
127,823,959 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1173:Map3k19
|
UTSW |
1 |
127,823,880 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1174:Map3k19
|
UTSW |
1 |
127,823,880 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1175:Map3k19
|
UTSW |
1 |
127,823,880 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1457:Map3k19
|
UTSW |
1 |
127,817,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1661:Map3k19
|
UTSW |
1 |
127,817,656 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1665:Map3k19
|
UTSW |
1 |
127,817,656 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1753:Map3k19
|
UTSW |
1 |
127,822,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1944:Map3k19
|
UTSW |
1 |
127,823,122 (GRCm38) |
missense |
probably benign |
0.29 |
|
R2496:Map3k19
|
UTSW |
1 |
127,823,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2878:Map3k19
|
UTSW |
1 |
127,823,793 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R2895:Map3k19
|
UTSW |
1 |
127,822,098 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R3025:Map3k19
|
UTSW |
1 |
127,838,553 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4577:Map3k19
|
UTSW |
1 |
127,822,813 (GRCm38) |
nonsense |
probably null |
|
|
R4612:Map3k19
|
UTSW |
1 |
127,815,300 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4888:Map3k19
|
UTSW |
1 |
127,817,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4927:Map3k19
|
UTSW |
1 |
127,822,195 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5028:Map3k19
|
UTSW |
1 |
127,823,232 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5050:Map3k19
|
UTSW |
1 |
127,823,562 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5131:Map3k19
|
UTSW |
1 |
127,823,690 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5556:Map3k19
|
UTSW |
1 |
127,834,547 (GRCm38) |
nonsense |
probably null |
|
|
R5606:Map3k19
|
UTSW |
1 |
127,822,957 (GRCm38) |
missense |
probably benign |
|
|
R5617:Map3k19
|
UTSW |
1 |
127,822,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5755:Map3k19
|
UTSW |
1 |
127,822,381 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5854:Map3k19
|
UTSW |
1 |
127,830,355 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5952:Map3k19
|
UTSW |
1 |
127,822,740 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6132:Map3k19
|
UTSW |
1 |
127,850,476 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6175:Map3k19
|
UTSW |
1 |
127,822,832 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6261:Map3k19
|
UTSW |
1 |
127,822,599 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6471:Map3k19
|
UTSW |
1 |
127,817,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6726:Map3k19
|
UTSW |
1 |
127,820,448 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6732:Map3k19
|
UTSW |
1 |
127,824,232 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6762:Map3k19
|
UTSW |
1 |
127,847,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7366:Map3k19
|
UTSW |
1 |
127,817,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:Map3k19
|
UTSW |
1 |
127,838,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7686:Map3k19
|
UTSW |
1 |
127,822,248 (GRCm38) |
nonsense |
probably null |
|
|
R7702:Map3k19
|
UTSW |
1 |
127,829,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7849:Map3k19
|
UTSW |
1 |
127,823,646 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8129:Map3k19
|
UTSW |
1 |
127,822,683 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8134:Map3k19
|
UTSW |
1 |
127,823,755 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8136:Map3k19
|
UTSW |
1 |
127,823,755 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8264:Map3k19
|
UTSW |
1 |
127,823,791 (GRCm38) |
missense |
|
|
|
R8511:Map3k19
|
UTSW |
1 |
127,847,418 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8808:Map3k19
|
UTSW |
1 |
127,824,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8913:Map3k19
|
UTSW |
1 |
127,822,626 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9025:Map3k19
|
UTSW |
1 |
127,830,438 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9593:Map3k19
|
UTSW |
1 |
127,850,426 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9681:Map3k19
|
UTSW |
1 |
127,822,360 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
Z1177:Map3k19
|
UTSW |
1 |
127,822,034 (GRCm38) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGGGTATTTATACTCTTTGGGT -3'
(R):5'- AGGTCATCAATGAGTCTGGCTA -3'
Sequencing Primer
(F):5'- TGCTGAAGCTACAGGCATCTAGC -3'
(R):5'- TCATCAATGAGTCTGGCTATGGAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation