Incidental Mutation 'R0815:Map3k19'
ID |
78552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k19
|
Ensembl Gene |
ENSMUSG00000051590 |
Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
Synonyms |
Ysk4 |
MMRRC Submission |
038995-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R0815 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 127762375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
AlphaFold |
E9Q3S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061512
|
SMART Domains |
Protein: ENSMUSP00000056254 Gene: ENSMUSG00000051590
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 |
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 benign
Transcript: ENSMUST00000208183
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.3%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,865,184 (GRCm39) |
|
probably benign |
Het |
Abcf2 |
A |
T |
5: 24,772,268 (GRCm39) |
Y487N |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,609,299 (GRCm39) |
I188V |
probably benign |
Het |
Cacna1s |
A |
T |
1: 136,040,695 (GRCm39) |
I1231F |
possibly damaging |
Het |
Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,308,617 (GRCm39) |
T1770K |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
G |
1: 123,360,658 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,656,372 (GRCm39) |
I1571V |
probably benign |
Het |
Eif3j2 |
T |
A |
18: 43,610,036 (GRCm39) |
Y259F |
probably benign |
Het |
Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,573 (GRCm39) |
|
probably benign |
Het |
Frmd8 |
A |
T |
19: 5,915,084 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,096,161 (GRCm39) |
T326S |
probably benign |
Het |
Lrrc8c |
T |
C |
5: 105,756,400 (GRCm39) |
L725P |
probably damaging |
Het |
Med31 |
T |
A |
11: 72,104,657 (GRCm39) |
N50I |
probably damaging |
Het |
Myo15b |
T |
G |
11: 115,757,162 (GRCm39) |
|
probably benign |
Het |
Nemp1 |
T |
C |
10: 127,528,893 (GRCm39) |
L199S |
probably damaging |
Het |
Nod2 |
G |
A |
8: 89,399,290 (GRCm39) |
|
probably benign |
Het |
Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
Or2ak6 |
A |
G |
11: 58,593,435 (GRCm39) |
R303G |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,840,008 (GRCm39) |
I290V |
probably benign |
Het |
Parva |
G |
A |
7: 112,167,071 (GRCm39) |
V215M |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
C |
T |
16: 75,393,525 (GRCm39) |
R74C |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,333,479 (GRCm39) |
V744A |
probably damaging |
Het |
Rsbn1 |
T |
G |
3: 103,861,469 (GRCm39) |
S522A |
probably damaging |
Het |
Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
Sec31b |
G |
A |
19: 44,506,612 (GRCm39) |
Q909* |
probably null |
Het |
Slc38a11 |
T |
A |
2: 65,184,124 (GRCm39) |
I176L |
possibly damaging |
Het |
Slc39a4 |
C |
T |
15: 76,496,839 (GRCm39) |
D574N |
probably damaging |
Het |
Slc44a1 |
T |
G |
4: 53,536,421 (GRCm39) |
V199G |
possibly damaging |
Het |
Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
Son |
C |
A |
16: 91,452,372 (GRCm39) |
A373D |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Speg |
A |
G |
1: 75,392,036 (GRCm39) |
Y1606C |
probably damaging |
Het |
Srgap1 |
A |
T |
10: 121,621,379 (GRCm39) |
V1061D |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,765,908 (GRCm39) |
|
probably null |
Het |
Supt4a |
T |
A |
11: 87,628,409 (GRCm39) |
|
probably benign |
Het |
Teddm1b |
A |
G |
1: 153,750,638 (GRCm39) |
K149R |
possibly damaging |
Het |
Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,568 (GRCm39) |
T144A |
probably benign |
Het |
Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
possibly 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 |
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'- ACTTCTGAAATTGCCAGAGAACCCC -3'
(R):5'- TGTAGGCTGACGTTGTAGCTCCTC -3'
Sequencing Primer
(F):5'- CCAAAGCAACAGTGCTATCTTTAGG -3'
(R):5'- TTGGAAGGTCAGCATTCACC -3'
|
Posted On |
2013-10-16 |