Incidental Mutation 'IGL01603:Map3k19'
ID |
92207 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map3k19
|
Ensembl Gene |
ENSMUSG00000051590 |
Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
Synonyms |
Ysk4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL01603
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127758010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 186
(D186V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
AlphaFold |
E9Q3S4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061512
AA Change: D186V
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056254 Gene: ENSMUSG00000051590 AA Change: D186V
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 |
probably benign
Transcript: ENSMUST00000187653
|
SMART Domains |
Protein: ENSMUSP00000140930 Gene: ENSMUSG00000051590
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 |
unknown
Transcript: ENSMUST00000189398
AA Change: D196V
|
SMART Domains |
Protein: ENSMUSP00000140449 Gene: ENSMUSG00000051590 AA Change: D196V
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
S_TKc
|
216 |
452 |
4.8e-15 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000191333
AA Change: D196V
|
SMART Domains |
Protein: ENSMUSP00000141029 Gene: ENSMUSG00000051590 AA Change: D196V
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: D390V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
T |
A |
17: 32,564,327 (GRCm39) |
D20V |
probably damaging |
Het |
Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
Cln3 |
T |
G |
7: 126,174,526 (GRCm39) |
N275T |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
Ctr9 |
C |
A |
7: 110,648,538 (GRCm39) |
A726D |
probably damaging |
Het |
Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
Sbf1 |
A |
T |
15: 89,187,481 (GRCm39) |
V690E |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,449,910 (GRCm39) |
S108T |
probably benign |
Het |
Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Map3k19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01126:Map3k19
|
APN |
1 |
127,752,068 (GRCm39) |
nonsense |
probably null |
|
IGL01367:Map3k19
|
APN |
1 |
127,752,088 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01443:Map3k19
|
APN |
1 |
127,766,244 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01481:Map3k19
|
APN |
1 |
127,750,215 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01530:Map3k19
|
APN |
1 |
127,749,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02044:Map3k19
|
APN |
1 |
127,751,242 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:Map3k19
|
APN |
1 |
127,750,907 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02296:Map3k19
|
APN |
1 |
127,751,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02349:Map3k19
|
APN |
1 |
127,751,506 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02823:Map3k19
|
APN |
1 |
127,750,001 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02965:Map3k19
|
APN |
1 |
127,751,803 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03137:Map3k19
|
APN |
1 |
127,752,052 (GRCm39) |
missense |
probably benign |
0.04 |
R0125:Map3k19
|
UTSW |
1 |
127,750,837 (GRCm39) |
missense |
probably benign |
0.07 |
R0265:Map3k19
|
UTSW |
1 |
127,749,919 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0389:Map3k19
|
UTSW |
1 |
127,750,152 (GRCm39) |
missense |
probably benign |
0.08 |
R0443:Map3k19
|
UTSW |
1 |
127,750,152 (GRCm39) |
missense |
probably benign |
0.08 |
R0465:Map3k19
|
UTSW |
1 |
127,766,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Map3k19
|
UTSW |
1 |
127,749,919 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0759:Map3k19
|
UTSW |
1 |
127,745,162 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0815:Map3k19
|
UTSW |
1 |
127,762,375 (GRCm39) |
splice site |
probably benign |
|
R0838:Map3k19
|
UTSW |
1 |
127,751,696 (GRCm39) |
missense |
probably benign |
0.13 |
R1173:Map3k19
|
UTSW |
1 |
127,751,617 (GRCm39) |
missense |
probably benign |
0.17 |
R1174:Map3k19
|
UTSW |
1 |
127,751,617 (GRCm39) |
missense |
probably benign |
0.17 |
R1175:Map3k19
|
UTSW |
1 |
127,751,617 (GRCm39) |
missense |
probably benign |
0.17 |
R1457:Map3k19
|
UTSW |
1 |
127,745,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Map3k19
|
UTSW |
1 |
127,745,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1665:Map3k19
|
UTSW |
1 |
127,745,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1753:Map3k19
|
UTSW |
1 |
127,750,417 (GRCm39) |
missense |
probably benign |
0.02 |
R1944:Map3k19
|
UTSW |
1 |
127,750,859 (GRCm39) |
missense |
probably benign |
0.29 |
R2496:Map3k19
|
UTSW |
1 |
127,750,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Map3k19
|
UTSW |
1 |
127,751,530 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2895:Map3k19
|
UTSW |
1 |
127,749,835 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3025:Map3k19
|
UTSW |
1 |
127,766,290 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4577:Map3k19
|
UTSW |
1 |
127,750,550 (GRCm39) |
nonsense |
probably null |
|
R4612:Map3k19
|
UTSW |
1 |
127,743,037 (GRCm39) |
missense |
probably benign |
0.07 |
R4888:Map3k19
|
UTSW |
1 |
127,745,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4927:Map3k19
|
UTSW |
1 |
127,749,932 (GRCm39) |
missense |
probably benign |
0.08 |
R5028:Map3k19
|
UTSW |
1 |
127,750,969 (GRCm39) |
missense |
probably benign |
0.00 |
R5050:Map3k19
|
UTSW |
1 |
127,751,299 (GRCm39) |
missense |
probably benign |
0.21 |
R5131:Map3k19
|
UTSW |
1 |
127,751,427 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5556:Map3k19
|
UTSW |
1 |
127,762,284 (GRCm39) |
nonsense |
probably null |
|
R5606:Map3k19
|
UTSW |
1 |
127,750,694 (GRCm39) |
missense |
probably benign |
|
R5617:Map3k19
|
UTSW |
1 |
127,750,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5755:Map3k19
|
UTSW |
1 |
127,750,118 (GRCm39) |
missense |
probably benign |
0.02 |
R5854:Map3k19
|
UTSW |
1 |
127,758,092 (GRCm39) |
missense |
probably damaging |
0.96 |
R5952:Map3k19
|
UTSW |
1 |
127,750,477 (GRCm39) |
missense |
probably benign |
0.01 |
R6132:Map3k19
|
UTSW |
1 |
127,778,213 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6175:Map3k19
|
UTSW |
1 |
127,750,569 (GRCm39) |
missense |
probably benign |
0.05 |
R6261:Map3k19
|
UTSW |
1 |
127,750,336 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6471:Map3k19
|
UTSW |
1 |
127,744,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6726:Map3k19
|
UTSW |
1 |
127,748,185 (GRCm39) |
missense |
probably benign |
0.09 |
R6732:Map3k19
|
UTSW |
1 |
127,751,969 (GRCm39) |
missense |
probably benign |
0.37 |
R6762:Map3k19
|
UTSW |
1 |
127,775,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Map3k19
|
UTSW |
1 |
127,745,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Map3k19
|
UTSW |
1 |
127,766,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R7686:Map3k19
|
UTSW |
1 |
127,749,985 (GRCm39) |
nonsense |
probably null |
|
R7702:Map3k19
|
UTSW |
1 |
127,756,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Map3k19
|
UTSW |
1 |
127,751,383 (GRCm39) |
missense |
probably benign |
0.21 |
R8129:Map3k19
|
UTSW |
1 |
127,750,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8134:Map3k19
|
UTSW |
1 |
127,751,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R8136:Map3k19
|
UTSW |
1 |
127,751,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R8264:Map3k19
|
UTSW |
1 |
127,751,528 (GRCm39) |
missense |
|
|
R8305:Map3k19
|
UTSW |
1 |
127,745,007 (GRCm39) |
missense |
|
|
R8511:Map3k19
|
UTSW |
1 |
127,775,155 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8808:Map3k19
|
UTSW |
1 |
127,751,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Map3k19
|
UTSW |
1 |
127,750,363 (GRCm39) |
missense |
probably benign |
0.08 |
R9025:Map3k19
|
UTSW |
1 |
127,758,175 (GRCm39) |
missense |
probably benign |
0.06 |
R9593:Map3k19
|
UTSW |
1 |
127,778,163 (GRCm39) |
missense |
probably benign |
0.01 |
R9681:Map3k19
|
UTSW |
1 |
127,750,097 (GRCm39) |
missense |
possibly damaging |
0.61 |
Z1177:Map3k19
|
UTSW |
1 |
127,749,771 (GRCm39) |
missense |
probably benign |
0.16 |
|
Posted On |
2013-12-09 |