Incidental Mutation 'R5617:Map3k19'
ID |
439561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k19
|
Ensembl Gene |
ENSMUSG00000051590 |
Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
Synonyms |
Ysk4 |
MMRRC Submission |
043276-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127750703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 883
(R883C)
|
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: R679C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056254 Gene: ENSMUSG00000051590 AA Change: R679C
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: R578C
|
SMART Domains |
Protein: ENSMUSP00000140930 Gene: ENSMUSG00000051590 AA Change: R578C
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 damaging
Transcript: ENSMUST00000208183
AA Change: R883C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2870 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,227,891 (GRCm39) |
L645F |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,787,851 (GRCm39) |
Y522C |
probably damaging |
Het |
Asb18 |
A |
G |
1: 89,882,184 (GRCm39) |
V118A |
possibly damaging |
Het |
Aste1 |
T |
A |
9: 105,275,034 (GRCm39) |
C8S |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,453,423 (GRCm39) |
S834G |
probably benign |
Het |
Cdh18 |
A |
G |
15: 23,226,854 (GRCm39) |
D105G |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,934 (GRCm39) |
E288G |
probably damaging |
Het |
Clcnka |
C |
T |
4: 141,116,628 (GRCm39) |
G541D |
probably null |
Het |
Dctn3 |
T |
C |
4: 41,716,407 (GRCm39) |
I134V |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,182,933 (GRCm39) |
S917P |
probably benign |
Het |
Fam135b |
A |
T |
15: 71,493,865 (GRCm39) |
D21E |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,972 (GRCm39) |
V144A |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,639,042 (GRCm39) |
Y1087H |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,894,527 (GRCm39) |
|
noncoding transcript |
Het |
Gm9271 |
G |
T |
7: 39,013,076 (GRCm39) |
|
noncoding transcript |
Het |
Grm2 |
T |
C |
9: 106,528,275 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 35,028,150 (GRCm39) |
V1802D |
possibly damaging |
Het |
Ighv1-75 |
C |
A |
12: 115,797,874 (GRCm39) |
G16V |
probably benign |
Het |
Krt78 |
G |
A |
15: 101,856,044 (GRCm39) |
T589I |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,631,993 (GRCm39) |
|
probably benign |
Het |
Lbr |
A |
T |
1: 181,656,467 (GRCm39) |
V227D |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,954,786 (GRCm39) |
V211A |
probably damaging |
Het |
Marchf8 |
A |
C |
6: 116,380,481 (GRCm39) |
I111L |
possibly damaging |
Het |
Mrps10 |
T |
A |
17: 47,689,167 (GRCm39) |
M187K |
probably benign |
Het |
Ncdn |
G |
A |
4: 126,638,840 (GRCm39) |
R660C |
probably damaging |
Het |
Notum |
A |
T |
11: 120,547,171 (GRCm39) |
Y332* |
probably null |
Het |
Nr1h5 |
A |
T |
3: 102,855,145 (GRCm39) |
L319I |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,921 (GRCm39) |
H180L |
possibly damaging |
Het |
Or8k35 |
T |
A |
2: 86,424,345 (GRCm39) |
I276L |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,246,684 (GRCm39) |
D765G |
possibly damaging |
Het |
Parp3 |
C |
T |
9: 106,351,704 (GRCm39) |
V170M |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,471,504 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
G |
18: 37,131,869 (GRCm39) |
S313A |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,020,107 (GRCm39) |
R201G |
possibly damaging |
Het |
Pgm5 |
G |
A |
19: 24,727,765 (GRCm39) |
R375* |
probably null |
Het |
Phactr2 |
A |
G |
10: 13,349,809 (GRCm39) |
S72P |
possibly damaging |
Het |
Plaat1 |
A |
T |
16: 29,039,162 (GRCm39) |
R81* |
probably null |
Het |
Plec |
A |
G |
15: 76,058,732 (GRCm39) |
L3600P |
probably damaging |
Het |
Pou6f1 |
G |
A |
15: 100,483,874 (GRCm39) |
T208M |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,808,355 (GRCm39) |
S394L |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,301,489 (GRCm39) |
F687C |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,789,863 (GRCm39) |
F163S |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,804,430 (GRCm39) |
N240D |
probably benign |
Het |
Samd13 |
C |
A |
3: 146,352,065 (GRCm39) |
K95N |
probably benign |
Het |
Slc25a17 |
G |
T |
15: 81,244,975 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
G |
T |
11: 82,895,547 (GRCm39) |
H420N |
probably benign |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Stim2 |
G |
A |
5: 54,267,075 (GRCm39) |
E21K |
probably damaging |
Het |
Tmem163 |
A |
G |
1: 127,479,067 (GRCm39) |
Y151H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,902,834 (GRCm39) |
I209T |
probably benign |
Het |
Tubal3 |
T |
A |
13: 3,983,432 (GRCm39) |
L404H |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,640 (GRCm39) |
F150S |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,030,901 (GRCm39) |
S425G |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,904,861 (GRCm39) |
H326L |
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 |
|
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'- AACGCTATCCTCTGTATGGCC -3'
(R):5'- TCGAATCGGTAAACATGCAGGC -3'
Sequencing Primer
(F):5'- GCAACCTTTGTCTTTAGAAATGAACC -3'
(R):5'- AGCCAGGCATTCCCCTC -3'
|
Posted On |
2016-11-08 |