Mutagenetix > Incidental Mutation

Incidental Mutation 'R0759:Map3k19'

69992

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

038939-MU

Accession Numbers

Essential gene?

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

Stock #

R0759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127742528-127782768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127745162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1227 (Y1227H)

Ref Sequence

ENSEMBL: ENSMUSP00000056254 (fasta)

Gene Model

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

AlphaFold

E9Q3S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061512
AA Change: Y1227H

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: Y1227H

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: Y1126H

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: Y1126H

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

unknown
Transcript: ENSMUST00000189398
AA Change: Y382H

SMART Domains

Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: Y382H

Domain	Start	End	E-Value	Type
low complexity region	42	54	N/A	INTRINSIC
S_TKc	216	452	4.8e-15	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000191333
AA Change: Y430H

SMART Domains

Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: Y430H

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: Y1431H

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,384,454 (GRCm39)	F504I	possibly damaging	Het
Amdhd2	C	A	17: 24,380,587 (GRCm39)	C119F	probably benign	Het
Arhgef18	T	G	8: 3,438,822 (GRCm39)		probably benign	Het
Bsph2	A	T	7: 13,290,652 (GRCm39)	Y76N	probably damaging	Het
C1s1	T	C	6: 124,508,396 (GRCm39)	N531S	probably damaging	Het
Ces1c	G	A	8: 93,857,492 (GRCm39)	Q30*	probably null	Het
Cltc	A	C	11: 86,627,908 (GRCm39)	I80S	probably null	Het
Colec11	A	G	12: 28,644,730 (GRCm39)	S249P	probably damaging	Het
Cxcl16	C	T	11: 70,349,954 (GRCm39)	C24Y	probably damaging	Het
Dennd4c	A	G	4: 86,707,066 (GRCm39)	I348V	probably damaging	Het
Elavl1	C	A	8: 4,339,815 (GRCm39)	D256Y	probably damaging	Het
Fubp1	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGGCGG	3: 151,916,274 (GRCm39)		probably benign	Het
Gm43434	T	G	14: 54,382,952 (GRCm39)		probably benign	Het
Il1a	T	A	2: 129,146,607 (GRCm39)	D162V	probably damaging	Het
Myb	C	T	10: 21,020,927 (GRCm39)	V501I	probably benign	Het
Nav1	A	G	1: 135,382,998 (GRCm39)	I1238T	possibly damaging	Het
Nr0b2	A	T	4: 133,281,049 (GRCm39)	Q105L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pdilt	A	T	7: 119,088,707 (GRCm39)	Y431*	probably null	Het
Plg	A	G	17: 12,629,838 (GRCm39)	H624R	probably damaging	Het
Ppl	A	G	16: 4,907,641 (GRCm39)	S885P	probably benign	Het
Ptdss1	T	C	13: 67,135,868 (GRCm39)	L375P	probably damaging	Het
Rrm1	A	G	7: 102,106,768 (GRCm39)	D347G	probably benign	Het
Sbf1	A	T	15: 89,188,919 (GRCm39)	V573E	probably damaging	Het
Slc9a1	T	A	4: 133,143,714 (GRCm39)	I400N	probably damaging	Het
Slurp1	A	G	15: 74,598,808 (GRCm39)	F61S	probably damaging	Het
Smpd3	T	C	8: 106,991,860 (GRCm39)	E231G	probably benign	Het
Sned1	C	T	1: 93,200,286 (GRCm39)	T564M	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trim35	T	A	14: 66,546,236 (GRCm39)	D334E	probably benign	Het
Trp53i11	A	G	2: 93,029,303 (GRCm39)	T101A	possibly damaging	Het
Usp9y	T	C	Y: 1,299,097 (GRCm39)	N2514D	probably damaging	Het
Xpc	A	T	6: 91,475,124 (GRCm39)	Y634N	probably damaging	Het
Zftraf1	A	G	15: 76,530,385 (GRCm39)	*312Q	probably null	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
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
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'- ACAGAACTTTGAGTGGGCCACAG -3'
(R):5'- AACGTCATGCTCATGCCAACGG -3'

Sequencing Primer
(F):5'- GAAAGGAATAGCTTCTTTGGGACTC -3'
(R):5'- CTCATGCCAACGGGAATAATAAAG -3'

Posted On

2013-09-30