Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Map3k19'

380883

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127815253-127855031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127822195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1140 (I1140V)

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: I936V

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

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I936V

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: I835V

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: I835V

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: I1140V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,730,816	Q213*	probably null	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,803,812	L1142*	probably null	Het
Arl13b	C	A	16: 62,801,787	G381V	probably damaging	Het
Ash1l	G	T	3: 88,985,334	V1507F	probably damaging	Het
Babam2	T	A	5: 31,702,064	F38I	probably benign	Het
Bend4	T	C	5: 67,400,276	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,460,624		probably null	Het
Cacna1g	A	T	11: 94,429,147	L1401Q	probably damaging	Het
Cep192	T	C	18: 67,835,124	V893A	probably benign	Het
Cnot10	A	T	9: 114,617,944	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,933,964	S785R	unknown	Het
Cpa3	A	G	3: 20,222,139	L310P	probably damaging	Het
Cux2	A	G	5: 121,877,089	I247T	probably benign	Het
Dab1	A	G	4: 104,704,252	T245A	probably benign	Het
Dmrta1	A	T	4: 89,691,748	D315V	probably damaging	Het
Dnah12	T	A	14: 26,861,805	L599*	probably null	Het
Dync1h1	T	C	12: 110,662,855	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,022,963	V1659A	probably damaging	Het
Flot2	G	A	11: 78,059,062	V406M	probably damaging	Het
Galnt2	A	G	8: 124,305,623	D75G	probably damaging	Het
Gcnt3	A	T	9: 70,035,182	C35S	probably damaging	Het
Gm13103	A	T	4: 143,851,617	Q149L	probably damaging	Het
Gp2	A	G	7: 119,452,895	F199L	probably benign	Het
Gramd3	C	T	18: 56,485,451	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,311,944	L177P	probably damaging	Het
Homez	T	C	14: 54,857,807	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,326,746	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 52,877,981	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,559,731	C125R	probably benign	Het
Klhl7	G	A	5: 24,141,187	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,946,899	S826P	probably benign	Het
Krtap14	T	C	16: 88,826,031	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,354,297		probably null	Het
Lrrc10b	G	A	19: 10,456,862	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,453,125	D398H	probably damaging	Het
Mos	G	A	4: 3,871,093	T241M	probably damaging	Het
Nol8	A	G	13: 49,654,425	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,214,786	S212A	probably benign	Het
Olfr319	T	A	11: 58,701,807	F35L	probably damaging	Het
Papd7	A	T	13: 69,502,900		probably null	Het
Plec	G	T	15: 76,176,962	T2947K	probably damaging	Het
Rasgrp3	A	G	17: 75,516,355	M474V	probably benign	Het
Ryr1	T	C	7: 29,019,983	Y4333C	unknown	Het
Scrn2	G	C	11: 97,033,500		probably null	Het
Slc22a12	C	A	19: 6,537,761	V388L	probably benign	Het
Slc4a11	A	G	2: 130,684,946	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,685,988	F195S	probably damaging	Het
Slfn9	A	C	11: 82,981,390	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,501,265	N35D	probably damaging	Het
Taf1d	T	A	9: 15,309,954	D185E	probably damaging	Het
Taok2	A	G	7: 126,876,041	L245P	probably damaging	Het
Ticam2	T	C	18: 46,560,779	I80M	probably damaging	Het
Tmem268	G	A	4: 63,583,927	V331I	probably benign	Het
Tmem55a	G	T	4: 14,912,458	R189L	probably damaging	Het
Tsga10	T	C	1: 37,801,850	E425G	probably damaging	Het
Ttc7	A	G	17: 87,346,705		probably null	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Unc13a	T	C	8: 71,654,845	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,660,399	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,509,125	N743K	probably damaging	Het
Wnt6	C	A	1: 74,784,136		probably null	Het
Wnt6	A	C	1: 74,784,137		probably null	Het
Wnt8a	T	A	18: 34,547,472	C297S	probably damaging	Het
Zfp786	T	C	6: 47,820,153	Q617R	probably benign	Het
Zfp91	A	G	19: 12,776,410		probably null	Het
Zw10	T	A	9: 49,068,683	F371L	probably damaging	Het

Other mutations in Map3k19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Map3k19	APN	1	127824331	nonsense	probably null
IGL01367:Map3k19	APN	1	127824351	missense	possibly damaging	0.88
IGL01443:Map3k19	APN	1	127838507	missense	probably benign	0.38
IGL01481:Map3k19	APN	1	127822478	missense	probably damaging	0.99
IGL01530:Map3k19	APN	1	127822104	missense	probably damaging	1.00
IGL01603:Map3k19	APN	1	127830273	missense	possibly damaging	0.89
IGL02044:Map3k19	APN	1	127823505	missense	probably damaging	1.00
IGL02159:Map3k19	APN	1	127823170	missense	probably benign	0.00
IGL02296:Map3k19	APN	1	127824246	missense	probably damaging	1.00
IGL02349:Map3k19	APN	1	127823769	missense	possibly damaging	0.48
IGL02823:Map3k19	APN	1	127822264	missense	probably benign	0.01
IGL02965:Map3k19	APN	1	127824066	missense	probably damaging	0.98
IGL03137:Map3k19	APN	1	127824315	missense	probably benign	0.04
R0125:Map3k19	UTSW	1	127823100	missense	probably benign	0.07
R0265:Map3k19	UTSW	1	127822182	missense	possibly damaging	0.61
R0389:Map3k19	UTSW	1	127822415	missense	probably benign	0.08
R0443:Map3k19	UTSW	1	127822415	missense	probably benign	0.08
R0465:Map3k19	UTSW	1	127838527	missense	probably damaging	1.00
R0645:Map3k19	UTSW	1	127822182	missense	possibly damaging	0.61
R0759:Map3k19	UTSW	1	127817425	missense	possibly damaging	0.90
R0815:Map3k19	UTSW	1	127834638	splice site	probably benign
R0838:Map3k19	UTSW	1	127823959	missense	probably benign	0.13
R1173:Map3k19	UTSW	1	127823880	missense	probably benign	0.17
R1174:Map3k19	UTSW	1	127823880	missense	probably benign	0.17
R1175:Map3k19	UTSW	1	127823880	missense	probably benign	0.17
R1457:Map3k19	UTSW	1	127817898	missense	probably damaging	1.00
R1661:Map3k19	UTSW	1	127817656	missense	possibly damaging	0.95
R1665:Map3k19	UTSW	1	127817656	missense	possibly damaging	0.95
R1753:Map3k19	UTSW	1	127822680	missense	probably benign	0.02
R1944:Map3k19	UTSW	1	127823122	missense	probably benign	0.29
R2496:Map3k19	UTSW	1	127823086	missense	probably damaging	1.00
R2878:Map3k19	UTSW	1	127823793	missense	possibly damaging	0.61
R2895:Map3k19	UTSW	1	127822098	missense	possibly damaging	0.60
R3025:Map3k19	UTSW	1	127838553	critical splice acceptor site	probably null
R4577:Map3k19	UTSW	1	127822813	nonsense	probably null
R4612:Map3k19	UTSW	1	127815300	missense	probably benign	0.07
R4888:Map3k19	UTSW	1	127817733	missense	probably damaging	1.00
R5028:Map3k19	UTSW	1	127823232	missense	probably benign	0.00
R5050:Map3k19	UTSW	1	127823562	missense	probably benign	0.21
R5131:Map3k19	UTSW	1	127823690	missense	possibly damaging	0.78
R5556:Map3k19	UTSW	1	127834547	nonsense	probably null
R5606:Map3k19	UTSW	1	127822957	missense	probably benign
R5617:Map3k19	UTSW	1	127822966	missense	probably damaging	1.00
R5755:Map3k19	UTSW	1	127822381	missense	probably benign	0.02
R5854:Map3k19	UTSW	1	127830355	missense	probably damaging	0.96
R5952:Map3k19	UTSW	1	127822740	missense	probably benign	0.01
R6132:Map3k19	UTSW	1	127850476	missense	possibly damaging	0.53
R6175:Map3k19	UTSW	1	127822832	missense	probably benign	0.05
R6261:Map3k19	UTSW	1	127822599	missense	possibly damaging	0.95
R6471:Map3k19	UTSW	1	127817254	missense	probably damaging	1.00
R6726:Map3k19	UTSW	1	127820448	missense	probably benign	0.09
R6732:Map3k19	UTSW	1	127824232	missense	probably benign	0.37
R6762:Map3k19	UTSW	1	127847264	missense	probably damaging	1.00
R7366:Map3k19	UTSW	1	127817455	missense	probably damaging	1.00
R7414:Map3k19	UTSW	1	127838452	missense	probably damaging	0.99
R7686:Map3k19	UTSW	1	127822248	nonsense	probably null
R7702:Map3k19	UTSW	1	127829090	missense	probably damaging	1.00
R7849:Map3k19	UTSW	1	127823646	missense	probably benign	0.21
R8129:Map3k19	UTSW	1	127822683	missense	possibly damaging	0.90
R8134:Map3k19	UTSW	1	127823755	missense	probably damaging	0.99
R8136:Map3k19	UTSW	1	127823755	missense	probably damaging	0.99
R8264:Map3k19	UTSW	1	127823791	missense
R8305:Map3k19	UTSW	1	127817270	missense
R8511:Map3k19	UTSW	1	127847418	missense	possibly damaging	0.71
R8808:Map3k19	UTSW	1	127824129	missense	probably damaging	1.00
R8913:Map3k19	UTSW	1	127822626	missense	probably benign	0.08
R9025:Map3k19	UTSW	1	127830438	missense	probably benign	0.06
R9593:Map3k19	UTSW	1	127850426	missense	probably benign	0.01
R9681:Map3k19	UTSW	1	127822360	missense	possibly damaging	0.61
Z1177:Map3k19	UTSW	1	127822034	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGACCAACCTGAAGTTTGACATC -3'
(R):5'- AGATGTTCCCGGGTTACCTG -3'

Sequencing Primer
(F):5'- CCAACCTGAAGTTTGACATCTGTTG -3'
(R):5'- ACCTGGAGTTTGATAGCCTTTCAGAG -3'

Posted On

2016-04-15