Incidental Mutation 'R5854:Map3k19'
| ID |
454800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 127758092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 363
(P363T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061512
AA Change: P159T
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: P159T
| 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: P169T
|
| SMART Domains |
Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: P169T
| 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: P169T
|
| SMART Domains |
Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: P169T
| 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: P363T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- TGAGTAAATACGGCCTGAACAG -3'
(R):5'- TTCAGAGCATCAGGAACGGG -3'
Sequencing Primer
(F):5'- TTGTTTAGGGACAGGGAACTAAC -3'
(R):5'- GGAACAAGTGCATCCTGTCTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation