Incidental Mutation 'R8511:Map3k19'
| ID |
655841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
067888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127775155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 61
(E61K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208183
AA Change: E61K
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
| 6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
| Acan |
A |
G |
7: 78,747,683 (GRCm39) |
D818G |
possibly damaging |
Het |
| Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
| Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
| Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
| Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
| Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
| Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
| Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
| Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
| Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
| Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
| Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
| Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 121,015,513 (GRCm39) |
I175T |
possibly damaging |
Het |
| Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
| Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
| Polr1a |
C |
A |
6: 71,897,504 (GRCm39) |
H207N |
probably benign |
Het |
| Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
| Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,952,990 (GRCm39) |
V523A |
probably benign |
Het |
| Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
| Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
| Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
| Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
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 |
|
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 |
|
|
|
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'- GAAGCTGCTTCAGATCACCTA -3'
(R):5'- GCCACTCAAAACTATGAAGAATTCTA -3'
Sequencing Primer
(F):5'- TGCTTCAGATCACCTAGCCACG -3'
(R):5'- CTGGTCTACAGGTCAAATTTCAGGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation