Incidental Mutation 'R6261:Map3k19'
| ID |
506671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
044404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6261 (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 G
at 127750336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1005
(I1005T)
|
| 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: I801T
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I801T
| 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: I700T
|
| SMART Domains |
Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: I700T
| 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 |
possibly damaging
Transcript: ENSMUST00000208183
AA Change: I1005T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
| Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
| Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
| Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
| Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
| Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
| Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
| Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
| Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,405,134 (GRCm39) |
I218V |
probably benign |
Het |
| Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
| Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
| Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,708,599 (GRCm39) |
I288T |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
| Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
| Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
| Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
| Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
| Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
| Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
| Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,748 (GRCm39) |
S916P |
possibly damaging |
Het |
| Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
| Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,581,973 (GRCm39) |
F284L |
probably benign |
Het |
| Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
| Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
| Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
| Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
| Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
| Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,935 (GRCm39) |
Y296N |
probably benign |
Het |
| Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
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 |
|
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 |
|
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'- GTGCTTTTCTGGAGACACACG -3'
(R):5'- AGCACAGAGGGTTCATTTCTAAAG -3'
Sequencing Primer
(F):5'- TTCTGGAGACACACGCTTGC -3'
(R):5'- GGTTCATTTCTAAAGACAAAGGTTGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation