Incidental Mutation 'R1665:Map3k19'
ID |
187077 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k19
|
Ensembl Gene |
ENSMUSG00000051590 |
Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
Synonyms |
Ysk4 |
MMRRC Submission |
039701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R1665 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127745393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1354
(T1354S)
|
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: T1150S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000056254 Gene: ENSMUSG00000051590 AA Change: T1150S
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: T1049S
|
SMART Domains |
Protein: ENSMUSP00000140930 Gene: ENSMUSG00000051590 AA Change: T1049S
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: T305S
|
SMART Domains |
Protein: ENSMUSP00000140449 Gene: ENSMUSG00000051590 AA Change: T305S
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: T353S
|
SMART Domains |
Protein: ENSMUSP00000141029 Gene: ENSMUSG00000051590 AA Change: T353S
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: T1354S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.3567 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (87/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,596,816 (GRCm39) |
G423E |
probably damaging |
Het |
Acox3 |
A |
T |
5: 35,760,371 (GRCm39) |
H429L |
probably damaging |
Het |
Afg1l |
T |
A |
10: 42,302,573 (GRCm39) |
K142N |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,825 (GRCm39) |
I18V |
probably benign |
Het |
Angel2 |
T |
C |
1: 190,669,664 (GRCm39) |
Y115H |
probably damaging |
Het |
Bsg |
T |
G |
10: 79,547,352 (GRCm39) |
N261K |
probably damaging |
Het |
C2cd2l |
A |
T |
9: 44,228,072 (GRCm39) |
V83E |
probably benign |
Het |
Caml |
C |
A |
13: 55,779,784 (GRCm39) |
L286I |
probably benign |
Het |
Ccdc125 |
A |
G |
13: 100,830,081 (GRCm39) |
I284V |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,464,187 (GRCm39) |
|
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
Creg2 |
C |
T |
1: 39,662,372 (GRCm39) |
W253* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,560,185 (GRCm39) |
T2293A |
probably damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,434,982 (GRCm39) |
I292K |
probably benign |
Het |
Dab2ip |
T |
A |
2: 35,610,290 (GRCm39) |
M770K |
probably damaging |
Het |
Dct |
T |
A |
14: 118,271,663 (GRCm39) |
D389V |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 118,012,321 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,761 (GRCm39) |
E1921G |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,611,940 (GRCm39) |
K594R |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,767,476 (GRCm39) |
S272P |
probably damaging |
Het |
Ero1b |
T |
C |
13: 12,594,142 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
G |
3: 79,422,456 (GRCm39) |
F108S |
probably benign |
Het |
Foxb1 |
G |
A |
9: 69,667,104 (GRCm39) |
A142V |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,746,768 (GRCm39) |
S613C |
probably damaging |
Het |
Gm7276 |
C |
A |
18: 77,273,266 (GRCm39) |
|
probably benign |
Het |
Gnb4 |
A |
C |
3: 32,644,188 (GRCm39) |
L152* |
probably null |
Het |
H1f7 |
G |
T |
15: 98,154,796 (GRCm39) |
Q118K |
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,704,406 (GRCm39) |
L119P |
probably damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,293,282 (GRCm39) |
E274K |
probably benign |
Het |
Htr4 |
T |
C |
18: 62,545,305 (GRCm39) |
I30T |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,577,973 (GRCm39) |
Y512F |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
C |
A |
16: 17,594,352 (GRCm39) |
D160E |
probably benign |
Het |
Kpna6 |
T |
A |
4: 129,551,264 (GRCm39) |
R80S |
probably benign |
Het |
Lclat1 |
A |
G |
17: 73,494,999 (GRCm39) |
E142G |
probably damaging |
Het |
Lrig3 |
T |
C |
10: 125,833,570 (GRCm39) |
Y349H |
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
A |
13: 99,568,437 (GRCm39) |
N1428I |
unknown |
Het |
Med13l |
T |
A |
5: 118,887,813 (GRCm39) |
W1696R |
probably damaging |
Het |
Mfn1 |
T |
G |
3: 32,588,471 (GRCm39) |
V66G |
probably benign |
Het |
Mllt10 |
A |
T |
2: 18,213,601 (GRCm39) |
Q459L |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Muc15 |
C |
T |
2: 110,564,243 (GRCm39) |
Q260* |
probably null |
Het |
Nfkb1 |
T |
C |
3: 135,300,718 (GRCm39) |
H616R |
probably damaging |
Het |
Nr2c1 |
T |
A |
10: 94,024,045 (GRCm39) |
W417R |
probably damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,481 (GRCm39) |
S149P |
probably damaging |
Het |
Or13a26 |
G |
T |
7: 140,284,707 (GRCm39) |
C181F |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,116 (GRCm39) |
C189R |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,098 (GRCm39) |
Y113H |
probably damaging |
Het |
Or5b121 |
A |
T |
19: 13,507,202 (GRCm39) |
H99L |
probably damaging |
Het |
Or8c10 |
C |
T |
9: 38,278,862 (GRCm39) |
H7Y |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,117,702 (GRCm39) |
D26G |
probably damaging |
Het |
Pi15 |
G |
T |
1: 17,691,726 (GRCm39) |
C176F |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,792,149 (GRCm39) |
T569S |
possibly damaging |
Het |
Prf1 |
A |
C |
10: 61,138,666 (GRCm39) |
E208A |
probably benign |
Het |
Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
Rc3h1 |
T |
A |
1: 160,786,993 (GRCm39) |
V796E |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,409,326 (GRCm39) |
Y503C |
probably damaging |
Het |
Ripk3 |
T |
A |
14: 56,023,808 (GRCm39) |
H1L |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,735,503 (GRCm39) |
D4064N |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,674,724 (GRCm39) |
|
probably null |
Het |
Slco1a4 |
T |
G |
6: 141,785,303 (GRCm39) |
M96L |
possibly damaging |
Het |
Slit3 |
A |
T |
11: 35,125,733 (GRCm39) |
R137S |
possibly damaging |
Het |
Smad1 |
T |
C |
8: 80,098,658 (GRCm39) |
E52G |
probably damaging |
Het |
Srd5a2 |
A |
T |
17: 74,328,476 (GRCm39) |
W201R |
probably damaging |
Het |
Steap1 |
A |
T |
5: 5,786,498 (GRCm39) |
L313Q |
probably damaging |
Het |
Syt2 |
C |
A |
1: 134,675,358 (GRCm39) |
A403D |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,713,897 (GRCm39) |
S225R |
probably benign |
Het |
Thap3 |
C |
T |
4: 152,070,161 (GRCm39) |
V78M |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,869,792 (GRCm39) |
K446R |
probably benign |
Het |
Timmdc1 |
A |
C |
16: 38,331,079 (GRCm39) |
|
probably null |
Het |
Tm6sf2 |
G |
T |
8: 70,531,580 (GRCm39) |
|
probably benign |
Het |
Tmem126b |
G |
T |
7: 90,125,179 (GRCm39) |
A2E |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,301,887 (GRCm39) |
R584W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,661,200 (GRCm39) |
|
probably benign |
Het |
Vmn1r25 |
A |
T |
6: 57,955,446 (GRCm39) |
I281N |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,205,994 (GRCm39) |
F553S |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,163,505 (GRCm39) |
M575V |
unknown |
Het |
Zfp53 |
A |
G |
17: 21,729,766 (GRCm39) |
T600A |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,696,939 (GRCm39) |
S559P |
unknown |
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 |
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'- TCCAATGTAGAACATGGCTGCCATC -3'
(R):5'- GCTGAAGGCACTGAAGCATGTCAAC -3'
Sequencing Primer
(F):5'- CATGGACTTGAGCATGTCAC -3'
(R):5'- CAACATAGTAGCTTATCTAGGGACG -3'
|
Posted On |
2014-05-09 |