Incidental Mutation 'R1457:Map3k19'
| ID |
158532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
039512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127745635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 1273
(I1273R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061512
AA Change: I1069R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I1069R
| 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 |
unknown
Transcript: ENSMUST00000187653
AA Change: I968R
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: I968R
| 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 |
probably benign
Transcript: ENSMUST00000189398
|
| SMART Domains |
Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
| 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: I272R
|
| SMART Domains |
Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: I272R
| 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 damaging
Transcript: ENSMUST00000208183
AA Change: I1273R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,888,683 (GRCm39) |
I1210F |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,433,705 (GRCm39) |
H688R |
possibly damaging |
Het |
| Arhgap24 |
T |
A |
5: 102,811,972 (GRCm39) |
N66K |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,497,782 (GRCm39) |
G335D |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,381 (GRCm39) |
R488H |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,616,594 (GRCm39) |
V149E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,595 (GRCm39) |
P338Q |
probably benign |
Het |
| Cntln |
G |
T |
4: 85,015,076 (GRCm39) |
M1122I |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,012,768 (GRCm39) |
N302S |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,779,528 (GRCm39) |
R250G |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,665,093 (GRCm39) |
Y268* |
probably null |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,574 (GRCm39) |
P347L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,403,688 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,974,459 (GRCm39) |
V40I |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,860,448 (GRCm39) |
|
probably null |
Het |
| Fcrla |
A |
G |
1: 170,748,573 (GRCm39) |
L190P |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,635 (GRCm39) |
Y40* |
probably null |
Het |
| Gdf7 |
A |
T |
12: 8,348,073 (GRCm39) |
M416K |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,156 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
A |
19: 55,076,608 (GRCm39) |
N198Y |
probably damaging |
Het |
| Grip1 |
C |
T |
10: 119,822,255 (GRCm39) |
S327F |
possibly damaging |
Het |
| Hey2 |
C |
T |
10: 30,710,352 (GRCm39) |
A134T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,428,668 (GRCm39) |
I1341T |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,575,502 (GRCm39) |
L542P |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,064 (GRCm39) |
D234G |
probably benign |
Het |
| Matn1 |
T |
A |
4: 130,677,330 (GRCm39) |
F180I |
possibly damaging |
Het |
| Meikin |
T |
A |
11: 54,261,767 (GRCm39) |
L61* |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,221,872 (GRCm39) |
I199T |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,139,287 (GRCm39) |
S535T |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,120,347 (GRCm39) |
M1715T |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,971 (GRCm39) |
V54D |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,992,748 (GRCm39) |
V286A |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,998 (GRCm39) |
K426E |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,098,279 (GRCm39) |
N1410K |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,971,269 (GRCm39) |
T399S |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,816 (GRCm39) |
K301* |
probably null |
Het |
| Or1af1 |
A |
C |
2: 37,109,671 (GRCm39) |
T57P |
possibly damaging |
Het |
| Or51a43 |
A |
T |
7: 103,717,666 (GRCm39) |
C191S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,278 (GRCm39) |
N283K |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,492 (GRCm39) |
V217I |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,028,596 (GRCm39) |
S167P |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,714,013 (GRCm39) |
|
probably null |
Het |
| Pde4b |
C |
T |
4: 102,462,373 (GRCm39) |
T511I |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,239,172 (GRCm39) |
|
probably null |
Het |
| Psmd12 |
G |
A |
11: 107,370,472 (GRCm39) |
V24M |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,598,272 (GRCm39) |
M170K |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,374,710 (GRCm39) |
T1064I |
possibly damaging |
Het |
| Ripor3 |
C |
T |
2: 167,834,573 (GRCm39) |
V281M |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,130,904 (GRCm39) |
Q1353K |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,054,965 (GRCm39) |
D383G |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,132,446 (GRCm39) |
T1346M |
probably damaging |
Het |
| Slx1b |
A |
T |
7: 126,291,968 (GRCm39) |
V63E |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,974 (GRCm39) |
D907G |
probably damaging |
Het |
| Src |
G |
A |
2: 157,311,132 (GRCm39) |
V401M |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 34,966,053 (GRCm39) |
K24E |
possibly damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,114 (GRCm39) |
K647R |
probably damaging |
Het |
| Tbl1xr1 |
G |
A |
3: 22,247,333 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
G |
A |
11: 105,147,778 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
A |
15: 99,299,496 (GRCm39) |
I3K |
probably benign |
Het |
| Tmeff2 |
A |
T |
1: 51,221,026 (GRCm39) |
I334F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,670,659 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
T |
A |
9: 57,821,894 (GRCm39) |
I81N |
probably damaging |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,433 (GRCm39) |
Y77C |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,890 (GRCm39) |
C217R |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,603,554 (GRCm39) |
T331A |
probably benign |
Het |
| Vmn1r65 |
A |
G |
7: 6,012,156 (GRCm39) |
V26A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,065,445 (GRCm39) |
V1241G |
possibly damaging |
Het |
| Wtap |
A |
C |
17: 13,200,631 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
C |
A |
4: 136,712,148 (GRCm39) |
A1187S |
possibly damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,990 (GRCm39) |
S20P |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,227 (GRCm39) |
D397G |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,676 (GRCm39) |
S165T |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,891 (GRCm39) |
T487I |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
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 |
|
IGL01603:Map3k19
|
APN |
1 |
127,758,010 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGCCTGCCCAGGCCAAAC -3'
(R):5'- TACCATCTTGGCTCCCTGGAATGC -3'
Sequencing Primer
(F):5'- GTGGCCCAAAGCGGTTTATTATAC -3'
(R):5'- TCCCTGGAATGCAGGACTTAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation