Incidental Mutation 'R8134:Map3k19'
| ID |
632145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
067562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127751492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 620
(S620A)
|
| 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: S416A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: S416A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: S315A
| 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: S620A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.5%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,425,982 (GRCm39) |
P265L |
probably benign |
Het |
| Adam20 |
A |
G |
8: 41,249,101 (GRCm39) |
T404A |
probably benign |
Het |
| Anp32a |
G |
T |
9: 62,284,863 (GRCm39) |
R237L |
unknown |
Het |
| Ascc3 |
A |
G |
10: 50,643,554 (GRCm39) |
D1835G |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,590,220 (GRCm39) |
|
probably null |
Het |
| Bard1 |
A |
T |
1: 71,106,297 (GRCm39) |
N443K |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,647 (GRCm39) |
D476G |
possibly damaging |
Het |
| C2cd3 |
A |
T |
7: 100,067,711 (GRCm39) |
I487F |
|
Het |
| Cadm4 |
A |
G |
7: 24,203,030 (GRCm39) |
E384G |
possibly damaging |
Het |
| Camsap3 |
A |
G |
8: 3,648,075 (GRCm39) |
K128E |
probably benign |
Het |
| Casz1 |
C |
T |
4: 149,027,492 (GRCm39) |
P1005S |
probably damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,714,378 (GRCm39) |
V2667D |
unknown |
Het |
| Col11a1 |
A |
G |
3: 114,012,435 (GRCm39) |
K1792E |
unknown |
Het |
| Cpne9 |
A |
T |
6: 113,272,003 (GRCm39) |
D377V |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,982,550 (GRCm39) |
C2706S |
probably damaging |
Het |
| Ctnnbl1 |
T |
C |
2: 157,651,391 (GRCm39) |
V222A |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,227,452 (GRCm39) |
S277P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,734,884 (GRCm39) |
T158I |
probably benign |
Het |
| Hoxa4 |
G |
T |
6: 52,167,537 (GRCm39) |
H215N |
possibly damaging |
Het |
| Hpd |
G |
T |
5: 123,312,443 (GRCm39) |
Q309K |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,626,452 (GRCm39) |
T159A |
probably damaging |
Het |
| Ints10 |
T |
A |
8: 69,255,638 (GRCm39) |
Y209* |
probably null |
Het |
| Ints2 |
A |
G |
11: 86,103,486 (GRCm39) |
I1190T |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,872,188 (GRCm39) |
V107A |
probably null |
Het |
| Kdm4d |
C |
T |
9: 14,374,532 (GRCm39) |
R442H |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,413,756 (GRCm39) |
Y134C |
probably benign |
Het |
| Klb |
A |
T |
5: 65,540,958 (GRCm39) |
H1017L |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,481,285 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,047 (GRCm39) |
I423M |
probably damaging |
Het |
| Magi2 |
T |
G |
5: 20,596,365 (GRCm39) |
F274L |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,596,392 (GRCm39) |
D283E |
probably benign |
Het |
| Meis2 |
C |
T |
2: 115,697,369 (GRCm39) |
M388I |
probably benign |
Het |
| Ms4a3 |
G |
C |
19: 11,615,613 (GRCm39) |
H54Q |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,585 (GRCm39) |
M548K |
possibly damaging |
Het |
| Ninl |
C |
T |
2: 150,792,234 (GRCm39) |
C763Y |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,834 (GRCm39) |
F1522L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,680 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or2bd2 |
T |
C |
7: 6,441,922 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
A |
18: 37,939,916 (GRCm39) |
V106I |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,863,552 (GRCm39) |
V152A |
unknown |
Het |
| Pira1 |
A |
G |
7: 3,738,838 (GRCm39) |
S590P |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,057 (GRCm39) |
D118V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,097,443 (GRCm39) |
D203G |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,672,888 (GRCm39) |
M474K |
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,615,645 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,592 (GRCm39) |
N324S |
probably damaging |
Het |
| Spaca1 |
T |
A |
4: 34,042,157 (GRCm39) |
|
probably null |
Het |
| Sun3 |
G |
T |
11: 8,979,346 (GRCm39) |
D118E |
probably benign |
Het |
| Svop |
C |
T |
5: 114,180,992 (GRCm39) |
V215I |
probably benign |
Het |
| Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,064 (GRCm39) |
I1328N |
probably damaging |
Het |
| Tuba8 |
T |
A |
6: 121,198,381 (GRCm39) |
D116E |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,949,200 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,462,797 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,631,718 (GRCm39) |
I2639T |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp94 |
A |
T |
7: 24,003,166 (GRCm39) |
V92E |
probably benign |
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 |
|
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 |
|
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'- ACCACCCCATTCATTTCGGG -3'
(R):5'- CACTACTCCTACAGAGAGGGAAAG -3'
Sequencing Primer
(F):5'- ACCCCATTCATTTCGGGATTTG -3'
(R):5'- GAGAGGACTCCCAATATCTTTCATC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation