Mutagenetix > Incidental Mutation

Incidental Mutation 'R5606:Map3k19'

439276

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

043157-MU

Accession Numbers

Essential gene?

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

Stock #

R5606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127742528-127782768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127750694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 886 (R886C)

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: R682C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: R682C

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: R581C

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: R581C

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: R886C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,699,731 (GRCm39)	S75P	probably damaging	Het
Ankib1	A	T	5: 3,751,907 (GRCm39)	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,215,920 (GRCm39)	N40S	probably benign	Het
Armc8	T	C	9: 99,418,315 (GRCm39)	K80E	probably benign	Het
Blm	C	A	7: 80,110,580 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,047,359 (GRCm39)	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,127,959 (GRCm39)	I73N	probably damaging	Het
Ddx27	T	A	2: 166,861,886 (GRCm39)	D129E	probably benign	Het
Dnm3	T	C	1: 162,113,587 (GRCm39)	E491G	probably damaging	Het
Fgd6	C	A	10: 93,974,190 (GRCm39)	Y1310*	probably null	Het
Hnrnph3	C	T	10: 62,855,222 (GRCm39)	R21H	possibly damaging	Het
Hs3st4	C	A	7: 123,996,365 (GRCm39)	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,462,265 (GRCm39)	S100P	probably benign	Het
Mmrn2	G	A	14: 34,119,581 (GRCm39)	D187N	probably damaging	Het
Myo5c	G	A	9: 75,182,790 (GRCm39)	A810T	probably damaging	Het
Noxa1	T	A	2: 24,976,292 (GRCm39)	E332V	possibly damaging	Het
Or10al7	T	C	17: 38,365,693 (GRCm39)	T264A	probably damaging	Het
Or12j5	T	A	7: 140,083,713 (GRCm39)	I220F	probably damaging	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or7c70	A	G	10: 78,683,395 (GRCm39)	M118T	probably benign	Het
Parg	T	A	14: 31,984,693 (GRCm39)	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,610,101 (GRCm39)	V391D	probably damaging	Het
Plch1	A	T	3: 63,648,108 (GRCm39)	V421E	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Spta1	A	T	1: 174,047,468 (GRCm39)	H1704L	probably damaging	Het
Tbpl2	G	A	2: 23,977,245 (GRCm39)	P258S	possibly damaging	Het
Thoc2l	T	C	5: 104,669,744 (GRCm39)	I1422T	probably benign	Het
Tlr11	T	C	14: 50,599,717 (GRCm39)	C568R	probably benign	Het
Tmem260	T	A	14: 48,722,437 (GRCm39)	M324K	probably damaging	Het
Tmprss11g	T	A	5: 86,635,269 (GRCm39)	T402S	probably damaging	Het
Trim21	C	G	7: 102,208,813 (GRCm39)	R302P	probably damaging	Het
Uox	T	A	3: 146,316,057 (GRCm39)	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,580,822 (GRCm39)	M41V	probably benign	Het
Vmn2r59	A	C	7: 41,695,318 (GRCm39)	S365A	probably benign	Het
Zfp345	A	T	2: 150,316,788 (GRCm39)	Y6*	probably null	Het
Zpld2	A	C	4: 133,927,523 (GRCm39)	V410G	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
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'- AACGCTATCCTCTGTATGGCC -3'
(R):5'- CGAATCGGTAAACATGCAGGC -3'

Sequencing Primer
(F):5'- ATATCCTTGCAACCTTTGTCTTTAG -3'
(R):5'- AGCCAGGCATTCCCCTC -3'

Posted On

2016-10-26