Incidental Mutation 'R4577:Map3k19'
ID |
342514 |
Institutional Source |
Beutler Lab
|
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: 0.097)
|
Stock # |
R4577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 127750550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 934
(R934*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
AlphaFold |
E9Q3S4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061512
AA Change: R730*
|
SMART Domains |
Protein: ENSMUSP00000056254 Gene: ENSMUSG00000051590 AA Change: R730*
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 null
Transcript: ENSMUST00000187653
AA Change: R629*
|
SMART Domains |
Protein: ENSMUSP00000140930 Gene: ENSMUSG00000051590 AA Change: R629*
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 |
probably null
Transcript: ENSMUST00000208183
AA Change: R934*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
C |
4: 144,430,323 (GRCm39) |
I222S |
probably damaging |
Het |
Abca1 |
C |
A |
4: 53,062,568 (GRCm39) |
C1429F |
possibly damaging |
Het |
Acacb |
A |
G |
5: 114,364,892 (GRCm39) |
E1524G |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,510,090 (GRCm39) |
V759A |
probably damaging |
Het |
Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,277,773 (GRCm39) |
S2060T |
possibly damaging |
Het |
Cand2 |
G |
A |
6: 115,768,220 (GRCm39) |
C455Y |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,191 (GRCm39) |
D366G |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,711,152 (GRCm39) |
R595G |
probably damaging |
Het |
Chaf1a |
G |
A |
17: 56,372,184 (GRCm39) |
R784Q |
probably damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Clca4a |
C |
A |
3: 144,660,730 (GRCm39) |
S698I |
probably damaging |
Het |
Dnah5 |
A |
C |
15: 28,289,396 (GRCm39) |
Y1195S |
probably benign |
Het |
Dynlt4 |
A |
G |
4: 116,985,812 (GRCm39) |
T212A |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,114,308 (GRCm39) |
I1229T |
probably damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
F3 |
A |
G |
3: 121,527,763 (GRCm39) |
I254V |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,686,397 (GRCm39) |
F270S |
probably damaging |
Het |
Galnt3 |
T |
C |
2: 65,928,203 (GRCm39) |
Y231C |
probably benign |
Het |
Gm10220 |
A |
C |
5: 26,322,869 (GRCm39) |
I181S |
probably benign |
Het |
Gnb5 |
G |
A |
9: 75,250,823 (GRCm39) |
V316I |
possibly damaging |
Het |
Gys2 |
A |
G |
6: 142,400,236 (GRCm39) |
F325S |
possibly damaging |
Het |
Hmgn2 |
G |
A |
4: 133,694,668 (GRCm39) |
|
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
Iqub |
A |
T |
6: 24,501,290 (GRCm39) |
I220N |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 66,158,063 (GRCm39) |
K4R |
unknown |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
L3mbtl2 |
G |
A |
15: 81,570,486 (GRCm39) |
E655K |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,711,731 (GRCm39) |
C3163Y |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,910,489 (GRCm39) |
T1061A |
possibly damaging |
Het |
Mbnl1 |
G |
A |
3: 60,437,199 (GRCm39) |
V50I |
probably damaging |
Het |
Med15 |
G |
A |
16: 17,492,379 (GRCm39) |
Q132* |
probably null |
Het |
Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
Mtmr3 |
G |
C |
11: 4,447,375 (GRCm39) |
L361V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,124,827 (GRCm39) |
E1792G |
probably damaging |
Het |
Nup88 |
C |
A |
11: 70,860,543 (GRCm39) |
A55S |
probably damaging |
Het |
Or1ab2 |
T |
A |
8: 72,864,167 (GRCm39) |
Y252* |
probably null |
Het |
Or4a79 |
T |
C |
2: 89,552,387 (GRCm39) |
K23E |
possibly damaging |
Het |
Pacs1 |
G |
T |
19: 5,193,861 (GRCm39) |
S556* |
probably null |
Het |
Parp4 |
A |
G |
14: 56,827,867 (GRCm39) |
E206G |
probably benign |
Het |
Paxbp1 |
T |
G |
16: 90,812,042 (GRCm39) |
K889N |
probably damaging |
Het |
Pcdhga2 |
G |
A |
18: 37,802,302 (GRCm39) |
A49T |
possibly damaging |
Het |
Pcsk6 |
T |
A |
7: 65,609,014 (GRCm39) |
L292* |
probably null |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Plec |
C |
A |
15: 76,068,269 (GRCm39) |
Q1142H |
possibly damaging |
Het |
Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
Prss28 |
T |
C |
17: 25,529,079 (GRCm39) |
V140A |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,769,786 (GRCm39) |
S258T |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,336,866 (GRCm39) |
C932* |
probably null |
Het |
Sdc2 |
T |
C |
15: 33,017,278 (GRCm39) |
Y31H |
probably damaging |
Het |
Selenoh |
T |
C |
2: 84,500,675 (GRCm39) |
E55G |
possibly damaging |
Het |
Serpina3k |
T |
G |
12: 104,310,451 (GRCm39) |
V327G |
possibly damaging |
Het |
Setd1b |
A |
G |
5: 123,286,679 (GRCm39) |
E575G |
unknown |
Het |
Slco1a4 |
A |
T |
6: 141,765,266 (GRCm39) |
S325R |
probably damaging |
Het |
Smtnl1 |
C |
A |
2: 84,648,787 (GRCm39) |
V156L |
possibly damaging |
Het |
Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
Speg |
A |
G |
1: 75,392,039 (GRCm39) |
D1607G |
probably damaging |
Het |
Tmem101 |
T |
A |
11: 102,046,663 (GRCm39) |
M69L |
possibly damaging |
Het |
Treh |
G |
A |
9: 44,597,208 (GRCm39) |
M542I |
probably benign |
Het |
Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
Ttc6 |
T |
C |
12: 57,623,441 (GRCm39) |
I280T |
probably benign |
Het |
Ubtfl1 |
A |
G |
9: 18,320,789 (GRCm39) |
T106A |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,123,724 (GRCm39) |
H583R |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,241 (GRCm39) |
P2161S |
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 |
|
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'- TGGATAGATCTGAGACTGGAGC -3'
(R):5'- TTATTGTCACATTCGCGAGGC -3'
Sequencing Primer
(F):5'- ATCTGAGACTGGAGCGGGTG -3'
(R):5'- TCACATTCGCGAGGCAGAAAG -3'
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Posted On |
2015-09-24 |