Incidental Mutation 'R0265:Map3k19'
| ID |
34821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
038491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0265 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127749919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1144
(I1144T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061512
AA Change: I940T
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I940T
| 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: I839T
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: I839T
| 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 |
probably benign
Transcript: ENSMUST00000191333
|
| SMART Domains |
Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
S_TKc
|
237 |
500 |
1.5e-92 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208183
AA Change: I1144T
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
| Validation Efficiency |
99% (83/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,822,850 (GRCm39) |
I321V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,391 (GRCm39) |
D837G |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,617,440 (GRCm39) |
Y457* |
probably null |
Het |
| Alox5 |
T |
C |
6: 116,397,323 (GRCm39) |
Y287C |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,933,168 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,630,189 (GRCm39) |
K815E |
unknown |
Het |
| Atp11a |
A |
T |
8: 12,906,930 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a1 |
A |
T |
11: 100,939,341 (GRCm39) |
D702V |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,651,856 (GRCm39) |
N108Y |
probably damaging |
Het |
| Ccdc57 |
G |
C |
11: 120,812,637 (GRCm39) |
A39G |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,803,333 (GRCm39) |
V581D |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,304 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Ddit4l |
C |
T |
3: 137,330,048 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,909,245 (GRCm39) |
I1024F |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,221,026 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,634,621 (GRCm39) |
F213I |
probably damaging |
Het |
| Edrf1 |
G |
A |
7: 133,258,774 (GRCm39) |
D717N |
probably damaging |
Het |
| Efna5 |
G |
A |
17: 62,958,068 (GRCm39) |
P63S |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,484,681 (GRCm39) |
L486P |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,387,547 (GRCm39) |
Y248C |
probably damaging |
Het |
| Flcn |
G |
A |
11: 59,686,635 (GRCm39) |
Q373* |
probably null |
Het |
| Fry |
T |
C |
5: 150,358,241 (GRCm39) |
V1908A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 57,031,365 (GRCm39) |
Y58* |
probably null |
Het |
| Gabrp |
A |
T |
11: 33,502,614 (GRCm39) |
Y417N |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,194,964 (GRCm39) |
|
probably null |
Het |
| Grip2 |
C |
A |
6: 91,750,773 (GRCm39) |
|
probably null |
Het |
| Gsx2 |
A |
G |
5: 75,237,729 (GRCm39) |
Y227C |
probably damaging |
Het |
| H2ac1 |
T |
C |
13: 24,118,632 (GRCm39) |
V63A |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,769,793 (GRCm39) |
*665W |
probably null |
Het |
| Hsd3b1 |
C |
A |
3: 98,760,089 (GRCm39) |
V301L |
probably damaging |
Het |
| Ifitm5 |
T |
C |
7: 140,529,921 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,418,067 (GRCm39) |
D498V |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,995 (GRCm39) |
D554E |
probably benign |
Het |
| Itk |
G |
A |
11: 46,280,285 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,928,716 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,766,984 (GRCm39) |
V470A |
probably benign |
Het |
| Lamb3 |
T |
A |
1: 193,002,839 (GRCm39) |
W95R |
probably damaging |
Het |
| Lbhd2 |
T |
A |
12: 111,376,676 (GRCm39) |
I41N |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,321,015 (GRCm39) |
S1014C |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,832,743 (GRCm39) |
|
probably null |
Het |
| Mfsd10 |
T |
C |
5: 34,792,507 (GRCm39) |
|
probably benign |
Het |
| Mocos |
A |
G |
18: 24,799,333 (GRCm39) |
D189G |
probably benign |
Het |
| Mvb12a |
T |
A |
8: 71,999,654 (GRCm39) |
F224L |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,405,723 (GRCm39) |
|
probably null |
Het |
| Nos2 |
A |
T |
11: 78,828,428 (GRCm39) |
H249L |
probably damaging |
Het |
| Notum |
A |
G |
11: 120,549,160 (GRCm39) |
M184T |
probably benign |
Het |
| Nvl |
C |
A |
1: 180,962,395 (GRCm39) |
D192Y |
probably damaging |
Het |
| Or10j3 |
A |
G |
1: 173,031,484 (GRCm39) |
K187R |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,790,839 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or5ac22 |
A |
T |
16: 59,135,434 (GRCm39) |
F112Y |
probably damaging |
Het |
| Or5m12 |
T |
A |
2: 85,734,591 (GRCm39) |
N269I |
probably benign |
Het |
| Or8k27 |
C |
A |
2: 86,276,303 (GRCm39) |
V8L |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,172,396 (GRCm39) |
I397V |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,616,510 (GRCm39) |
V123A |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,184,081 (GRCm39) |
Y181C |
probably damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,954,403 (GRCm39) |
D559V |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,982,270 (GRCm39) |
N151S |
unknown |
Het |
| Plxnc1 |
C |
A |
10: 94,648,991 (GRCm39) |
G1263C |
probably benign |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,160 (GRCm39) |
*338Q |
probably null |
Het |
| Raver1 |
A |
G |
9: 20,986,955 (GRCm39) |
S676P |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,727,737 (GRCm39) |
E196G |
possibly damaging |
Het |
| Rreb1 |
A |
T |
13: 38,100,131 (GRCm39) |
K187* |
probably null |
Het |
| Rxfp1 |
T |
C |
3: 79,574,961 (GRCm39) |
T217A |
probably benign |
Het |
| Rxra |
T |
C |
2: 27,642,442 (GRCm39) |
L305P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,117,078 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,964,293 (GRCm39) |
E952D |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,147,334 (GRCm39) |
S343T |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,238,374 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
C |
T |
5: 31,673,262 (GRCm39) |
V329I |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tac1 |
T |
C |
6: 7,559,165 (GRCm39) |
|
probably benign |
Het |
| Tcn2 |
A |
T |
11: 3,872,044 (GRCm39) |
V361D |
probably damaging |
Het |
| Tm2d3 |
G |
A |
7: 65,347,582 (GRCm39) |
A170T |
possibly damaging |
Het |
| Tnks |
G |
A |
8: 35,307,124 (GRCm39) |
R1142* |
probably null |
Het |
| Ttll7 |
C |
A |
3: 146,649,915 (GRCm39) |
Y648* |
probably null |
Het |
| Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,032,015 (GRCm39) |
|
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,210,809 (GRCm39) |
I1013T |
probably benign |
Het |
| Zfp704 |
C |
A |
3: 9,630,217 (GRCm39) |
R48L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAGTTCTTCGATGGTATTGC -3'
(R):5'- CCCCTCTCGTTCCTTCAGAAAACAG -3'
Sequencing Primer
(F):5'- GCCTCTCCTGCTGAAGACAAG -3'
(R):5'- AATGCTGAGCAGATGTTCCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation