Incidental Mutation 'R7686:Map3k19'
| ID |
593060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
045751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 127749985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1122
(L1122*)
|
| 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: L918*
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: L918*
| 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: L817*
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: L817*
| 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: L1122*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
T |
1: 66,887,557 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,664,430 (GRCm39) |
I347F |
|
Het |
| Agmo |
T |
C |
12: 37,469,973 (GRCm39) |
V431A |
probably benign |
Het |
| Arl14epl |
A |
G |
18: 47,065,523 (GRCm39) |
D96G |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,233,534 (GRCm39) |
S113F |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,034 (GRCm39) |
C81* |
probably null |
Het |
| Bloc1s3 |
C |
T |
7: 19,241,531 (GRCm39) |
|
probably benign |
Het |
| Bmper |
C |
G |
9: 23,310,840 (GRCm39) |
L425V |
probably benign |
Het |
| Bok |
A |
T |
1: 93,622,822 (GRCm39) |
T194S |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
| Brcc3dc |
T |
C |
10: 108,535,301 (GRCm39) |
E218G |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,694,870 (GRCm39) |
I1541N |
probably benign |
Het |
| Brpf3 |
T |
C |
17: 29,025,908 (GRCm39) |
I327T |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,313,158 (GRCm39) |
N297Y |
probably damaging |
Het |
| Catsper2 |
C |
T |
2: 121,227,937 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,575,556 (GRCm39) |
N480I |
unknown |
Het |
| Cd83 |
A |
G |
13: 43,938,848 (GRCm39) |
M22V |
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,518,964 (GRCm39) |
D243G |
unknown |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Ctla4 |
A |
T |
1: 60,951,752 (GRCm39) |
T94S |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,361,430 (GRCm39) |
M1K |
probably null |
Het |
| Epha3 |
T |
A |
16: 63,593,651 (GRCm39) |
I146F |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,326,399 (GRCm39) |
S1008T |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,534 (GRCm39) |
R143G |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,335,233 (GRCm39) |
K654E |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,725,324 (GRCm39) |
M343T |
probably benign |
Het |
| Fibcd1 |
T |
G |
2: 31,723,880 (GRCm39) |
D253A |
probably damaging |
Het |
| Foxk1 |
C |
T |
5: 142,387,625 (GRCm39) |
S116L |
probably damaging |
Het |
| Gimap8 |
G |
A |
6: 48,633,006 (GRCm39) |
G275E |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,144,633 (GRCm39) |
Y269H |
probably damaging |
Het |
| H2ac20 |
T |
C |
3: 96,127,886 (GRCm39) |
E92G |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,645,086 (GRCm39) |
F522S |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,292 (GRCm39) |
N684S |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,146,504 (GRCm39) |
S372* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,319,581 (GRCm39) |
Y1981H |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,062 (GRCm39) |
Q2121P |
unknown |
Het |
| Lrrn2 |
A |
G |
1: 132,866,332 (GRCm39) |
T466A |
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,701,554 (GRCm39) |
E632G |
probably benign |
Het |
| Mfsd6l |
C |
T |
11: 68,448,052 (GRCm39) |
A301V |
probably benign |
Het |
| Mro |
A |
T |
18: 74,010,510 (GRCm39) |
M197L |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,418,342 (GRCm39) |
E799V |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,350,433 (GRCm39) |
D880E |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,842,330 (GRCm39) |
I148L |
possibly damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,582 (GRCm39) |
T246A |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,379 (GRCm39) |
R164S |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,117,439 (GRCm39) |
G113D |
probably damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,107,070 (GRCm39) |
T687S |
probably damaging |
Het |
| Pou2af1 |
T |
C |
9: 51,149,486 (GRCm39) |
Y193H |
probably damaging |
Het |
| Ppp1r14c |
T |
A |
10: 3,413,396 (GRCm39) |
I143N |
probably damaging |
Het |
| Ppp1r16a |
A |
T |
15: 76,578,783 (GRCm39) |
S496C |
probably benign |
Het |
| Prdm12 |
G |
A |
2: 31,530,229 (GRCm39) |
R40Q |
probably damaging |
Het |
| Rabepk |
C |
T |
2: 34,669,308 (GRCm39) |
G362S |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
A |
T |
6: 76,474,013 (GRCm39) |
L201H |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,755,293 (GRCm39) |
V743F |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,802,116 (GRCm39) |
C148* |
probably null |
Het |
| Scart2 |
A |
G |
7: 139,828,965 (GRCm39) |
N208S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,081 (GRCm39) |
Y1804N |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,316,150 (GRCm39) |
E257G |
possibly damaging |
Het |
| Stoml3 |
T |
C |
3: 53,410,589 (GRCm39) |
I101T |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,645,154 (GRCm39) |
D950G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,360 (GRCm39) |
D328G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,956,299 (GRCm39) |
K623E |
probably damaging |
Het |
| Tas2r134 |
T |
A |
2: 51,518,255 (GRCm39) |
S245T |
possibly damaging |
Het |
| Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,113,885 (GRCm39) |
V458I |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Tram1l1 |
T |
C |
3: 124,114,959 (GRCm39) |
F40L |
probably benign |
Het |
| Ttc29 |
A |
T |
8: 79,119,759 (GRCm39) |
T464S |
probably benign |
Het |
| Txndc9 |
A |
T |
1: 38,026,849 (GRCm39) |
M192K |
probably benign |
Het |
| Urb2 |
C |
A |
8: 124,771,911 (GRCm39) |
A1444E |
probably benign |
Het |
| Uty |
G |
A |
Y: 1,158,075 (GRCm39) |
T657I |
possibly damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,590 (GRCm39) |
V25D |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,744 (GRCm39) |
I724N |
probably damaging |
Het |
| Xkr6 |
C |
T |
14: 63,844,295 (GRCm39) |
T106M |
possibly damaging |
Het |
| Zc3h18 |
G |
A |
8: 123,140,615 (GRCm39) |
R850Q |
unknown |
Het |
| Zfp341 |
A |
G |
2: 154,466,781 (GRCm39) |
E50G |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,107,985 (GRCm39) |
A692E |
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 |
|
|
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 |
|
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'- TTGCCTCTCCTGCTGAAGAC -3'
(R):5'- TGTCTCCAGAAAAGCACAATGTAG -3'
Sequencing Primer
(F):5'- TCTCCTGCTGAAGACAAGATTC -3'
(R):5'- GAAAAGCACAATGTAGAACCTCTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation