Mutagenetix > Incidental Mutation

Incidental Mutation 'R5755:Map3k19'

444983

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

043202-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127742528-127782768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127750118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1078 (M1078V)

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: M874V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: M874V

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: M773V

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: M773V

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 benign
Transcript: ENSMUST00000208183
AA Change: M1078V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,617,428 (GRCm39)	F1042I	probably damaging	Het
Ahnak	A	G	19: 8,979,096 (GRCm39)	T127A	probably benign	Het
Aloxe3	A	G	11: 69,023,575 (GRCm39)	I233V	probably benign	Het
Ambn	T	A	5: 88,612,350 (GRCm39)		probably null	Het
Atp2b1	A	G	10: 98,839,032 (GRCm39)	E39G	probably damaging	Het
Atp2b1	T	C	10: 98,830,671 (GRCm39)		probably null	Het
Camsap2	C	T	1: 136,210,065 (GRCm39)	G476R	probably damaging	Het
Cdk4	T	A	10: 126,900,591 (GRCm39)		probably null	Het
Dcaf12	T	C	4: 41,313,356 (GRCm39)	Y63C	probably damaging	Het
Dtna	T	A	18: 23,754,520 (GRCm39)	S445T	probably benign	Het
Ehmt2	T	C	17: 35,127,214 (GRCm39)	M109T	probably benign	Het
Erbb4	T	C	1: 68,599,678 (GRCm39)	E133G	possibly damaging	Het
F830016B08Rik	T	A	18: 60,433,878 (GRCm39)	F320L	probably damaging	Het
Fyco1	A	G	9: 123,657,773 (GRCm39)	V801A	possibly damaging	Het
Gm57858	A	T	3: 36,071,842 (GRCm39)	M501K	probably benign	Het
Jag1	T	A	2: 136,930,610 (GRCm39)	N674Y	probably damaging	Het
Kcnj10	A	G	1: 172,197,161 (GRCm39)	E225G	possibly damaging	Het
Klhl11	T	A	11: 100,355,177 (GRCm39)	M215L	probably benign	Het
Kmt2d	G	T	15: 98,761,527 (GRCm39)	P608T	unknown	Het
Neto1	T	C	18: 86,517,219 (GRCm39)	V512A	probably damaging	Het
Notch1	T	C	2: 26,363,704 (GRCm39)	D910G	probably benign	Het
Or1e19	T	A	11: 73,316,557 (GRCm39)	N84I	probably benign	Het
Or2w1	T	A	13: 21,317,695 (GRCm39)	I250K	probably damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Pi4kb	A	T	3: 94,901,608 (GRCm39)		probably null	Het
Plag1	T	C	4: 3,904,492 (GRCm39)	K233R	possibly damaging	Het
Polr1h	T	A	17: 37,269,049 (GRCm39)	D43V	probably benign	Het
Rasgrp3	A	C	17: 75,831,940 (GRCm39)	D587A	probably benign	Het
Slc7a10	A	T	7: 34,898,336 (GRCm39)	I336F	probably damaging	Het
Snx8	T	G	5: 140,338,796 (GRCm39)	E254A	possibly damaging	Het
Sp3	A	T	2: 72,768,725 (GRCm39)		silent	Het
Sp8	G	T	12: 118,812,822 (GRCm39)	A226S	probably damaging	Het
Spata31d1c	C	A	13: 65,184,341 (GRCm39)	Q628K	probably benign	Het
Styx	C	A	14: 45,605,910 (GRCm39)	T138K	probably benign	Het
Syngr3	A	G	17: 24,905,509 (GRCm39)	F155S	probably damaging	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Ubr4	A	G	4: 139,187,406 (GRCm39)	T3825A	possibly damaging	Het
Vmn2r113	A	T	17: 23,176,955 (GRCm39)	T580S	probably benign	Het
Zbtb11	T	A	16: 55,821,076 (GRCm39)	S724R	probably benign	Het
Zcchc4	T	C	5: 52,973,511 (GRCm39)	S379P	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
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
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'- CCTGGGTCTAAGATTTCCTGGG -3'
(R):5'- GCATTCTCAACGATGACAGC -3'

Sequencing Primer
(F):5'- AATCTTTCCAAATGTCTGGTATGTGG -3'
(R):5'- TTCTCAACGATGACAGCCTTAC -3'

Posted On

2016-11-21