Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03137:Map3k19'

410568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

127815253-127855031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127824315 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 433 (R433K)

Ref Sequence

ENSEMBL: ENSMUSP00000146463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061512] [ENSMUST00000208183]

Predicted Effect

probably benign
Transcript: ENSMUST00000061512
AA Change: R229K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: R229K

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: R128K

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: R128K

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: R433K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,034,602	M569K	probably damaging	Het
AI481877	G	T	4: 59,094,162	F187L	probably benign	Het
Ankub1	T	C	3: 57,690,357	D64G	probably damaging	Het
Apobec2	C	T	17: 48,423,275	W121*	probably null	Het
Arid2	A	G	15: 96,371,318	N1104S	probably benign	Het
Brap	T	C	5: 121,665,093		probably benign	Het
Cilp	A	C	9: 65,278,168	N515T	probably benign	Het
Cpeb2	T	A	5: 43,261,724		probably benign	Het
Creb1	C	T	1: 64,576,215	T242I	possibly damaging	Het
Ddx60	T	C	8: 61,988,083	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,155,948	E1153G	probably benign	Het
Gk5	A	G	9: 96,176,292		probably benign	Het
Gm5478	G	T	15: 101,644,382	N60K	probably benign	Het
Hmcn2	T	A	2: 31,362,230	V904D	probably damaging	Het
Hnmt	T	A	2: 24,048,739	H29L	probably damaging	Het
Hsf1	A	G	15: 76,496,449		probably benign	Het
Igkv1-122	C	A	6: 68,017,416	T96K	probably damaging	Het
Iyd	T	C	10: 3,551,987	I211T	probably damaging	Het
Kcnn1	G	T	8: 70,850,737	H34N	probably damaging	Het
Krtap5-3	G	T	7: 142,202,209		probably benign	Het
Mss51	A	C	14: 20,487,132	C89W	probably damaging	Het
Myh9	A	T	15: 77,791,089	I276N	probably damaging	Het
Myof	T	C	19: 37,974,889	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 126,390,568	V215L	possibly damaging	Het
Olfr1113	A	T	2: 87,213,156	Y88F	probably benign	Het
Olfr631	T	C	7: 103,929,594	M257T	probably benign	Het
Olfr73	G	A	2: 88,034,410	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,308,516	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,657,145	S729P	possibly damaging	Het
Pick1	C	A	15: 79,245,301	H169N	possibly damaging	Het
Ppp4r4	A	C	12: 103,581,384	K212T	probably damaging	Het
Racgap1	A	G	15: 99,628,741	S314P	probably damaging	Het
Rasef	C	A	4: 73,734,483	E594*	probably null	Het
Ryr3	T	G	2: 112,910,397	K522Q	probably benign	Het
Six5	T	C	7: 19,097,147		probably benign	Het
Slc26a9	G	T	1: 131,763,877	E619D	probably benign	Het
Sqor	A	G	2: 122,808,071	I412V	probably benign	Het
Srrt	T	A	5: 137,296,117		probably benign	Het
Sult1e1	C	T	5: 87,578,616	R213K	probably benign	Het
Tmc2	T	A	2: 130,240,130	L411H	probably damaging	Het
Tmem63b	T	A	17: 45,664,995	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,482,762		probably benign	Het
Vmn1r201	A	T	13: 22,474,804	I63F	probably benign	Het
Vps13c	G	T	9: 67,890,380	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,332,394	S498P	probably benign	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
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
R4927:Map3k19	UTSW	1	127822195	missense	probably benign	0.08
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
Z1177:Map3k19	UTSW	1	127822034	missense	probably benign	0.16

Posted On

2016-08-02