Incidental Mutation 'R9681:Map3k19'
| ID |
728524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k19
|
| Ensembl Gene |
ENSMUSG00000051590 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 19 |
| Synonyms |
Ysk4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R9681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127742528-127782768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127750097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1085
(F1085L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061512]
[ENSMUST00000208183]
|
| AlphaFold |
E9Q3S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061512
AA Change: F881L
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: F881L
| 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: F780L
| 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: F1085L
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
A |
G |
6: 72,324,450 (GRCm39) |
D20G |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,566,082 (GRCm39) |
Y258* |
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,498 (GRCm39) |
H34L |
|
Het |
| Ankmy1 |
G |
T |
1: 92,813,882 (GRCm39) |
N432K |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,143,893 (GRCm39) |
M966T |
possibly damaging |
Het |
| Ark2n |
A |
T |
18: 77,722,989 (GRCm39) |
V349D |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,662 (GRCm39) |
T83A |
probably benign |
Het |
| Cdk1 |
T |
A |
10: 69,178,449 (GRCm39) |
D137V |
possibly damaging |
Het |
| Cfap299 |
T |
A |
5: 98,477,214 (GRCm39) |
M1K |
probably null |
Het |
| Chia1 |
A |
G |
3: 106,037,996 (GRCm39) |
Y326C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,974 (GRCm39) |
D295G |
possibly damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cr1l |
T |
C |
1: 194,800,149 (GRCm39) |
D175G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,067 (GRCm39) |
V87E |
probably damaging |
Het |
| Cyp2b19 |
T |
A |
7: 26,466,328 (GRCm39) |
L377Q |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,125,679 (GRCm39) |
V243D |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,562,414 (GRCm39) |
V2658A |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,677,611 (GRCm39) |
M437L |
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,425 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,880 (GRCm39) |
C80* |
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,831,315 (GRCm39) |
E805G |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,479,473 (GRCm39) |
E134G |
probably benign |
Het |
| Hdac11 |
T |
A |
6: 91,150,068 (GRCm39) |
V289D |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,081 (GRCm39) |
E118G |
possibly damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,041,858 (GRCm39) |
L1095Q |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,528,749 (GRCm39) |
C65S |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Itsn2 |
G |
T |
12: 4,683,499 (GRCm39) |
V341F |
unknown |
Het |
| Jak1 |
G |
A |
4: 101,019,085 (GRCm39) |
R723C |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,345,903 (GRCm39) |
C561S |
possibly damaging |
Het |
| Mcm7 |
A |
T |
5: 138,164,220 (GRCm39) |
Y600* |
probably null |
Het |
| Mecom |
A |
T |
3: 30,033,803 (GRCm39) |
D300E |
probably benign |
Het |
| Mfap4 |
T |
A |
11: 61,376,925 (GRCm39) |
Y51* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,833,254 (GRCm39) |
N286K |
probably benign |
Het |
| Myl2 |
A |
T |
5: 122,240,783 (GRCm39) |
R40* |
probably null |
Het |
| Nom1 |
A |
G |
5: 29,642,623 (GRCm39) |
S375G |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,598,133 (GRCm39) |
P368Q |
probably null |
Het |
| Oca2 |
G |
C |
7: 55,943,623 (GRCm39) |
Q265H |
probably null |
Het |
| Or52a20 |
T |
A |
7: 103,366,475 (GRCm39) |
F225I |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or5k8 |
T |
A |
16: 58,644,176 (GRCm39) |
N299Y |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,664 (GRCm39) |
T47S |
probably damaging |
Het |
| Or7a41 |
G |
A |
10: 78,871,577 (GRCm39) |
D316N |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,120 (GRCm39) |
E459G |
probably benign |
Het |
| Pde1a |
G |
T |
2: 79,695,465 (GRCm39) |
A494D |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,808,587 (GRCm39) |
Y428C |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,254,391 (GRCm39) |
F59L |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,258,950 (GRCm39) |
V980A |
possibly damaging |
Het |
| Polb |
T |
C |
8: 23,118,346 (GRCm39) |
D318G |
possibly damaging |
Het |
| Rasgef1c |
T |
A |
11: 49,861,040 (GRCm39) |
M335K |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,687 (GRCm39) |
S651P |
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,334,558 (GRCm39) |
I624S |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,087 (GRCm39) |
H290L |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,183,599 (GRCm39) |
H482R |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,681,691 (GRCm39) |
E168V |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,691,226 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,102,723 (GRCm39) |
K54* |
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,988,258 (GRCm39) |
L483P |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,084,959 (GRCm39) |
N1793I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,612,723 (GRCm39) |
I17119V |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,274,500 (GRCm39) |
L617P |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,083 (GRCm39) |
N542S |
possibly damaging |
Het |
| Vmn1r151 |
T |
A |
7: 22,198,368 (GRCm39) |
T246S |
probably damaging |
Het |
| Vmn1r57 |
T |
A |
7: 5,224,069 (GRCm39) |
V198E |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,889 (GRCm39) |
Q191L |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,403,356 (GRCm39) |
T39M |
possibly damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,470 (GRCm39) |
R537L |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,793,680 (GRCm39) |
V22E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,112 (GRCm39) |
L218P |
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 |
|
|
|
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 |
|
Z1177:Map3k19
|
UTSW |
1 |
127,749,771 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGGTCTAAGATTTCCTGG -3'
(R):5'- GCATTCTCAACGATGACAGCC -3'
Sequencing Primer
(F):5'- GCCCAGTGTTGTTCTGTA -3'
(R):5'- CCAAAGCCTTGGCGATCTGAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation