Mutagenetix > Incidental Mutation

Incidental Mutation 'R1944:Map3k19'

216412

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

039962-MU

Accession Numbers

Essential gene?

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

Stock #

R1944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127815253-127855031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127823122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 831 (T831A)

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: T627A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: T627A

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: T526A

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: T526A

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: T831A

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,930,796	N593Y	probably damaging	Het
Adamts16	C	T	13: 70,791,886	S406N	possibly damaging	Het
Adgrg1	G	A	8: 95,007,300	V350I	probably damaging	Het
Adgrv1	A	T	13: 81,510,911	D2051E	probably damaging	Het
Adrb2	C	A	18: 62,179,413	V114L	probably damaging	Het
Ago3	A	G	4: 126,353,727	V599A	probably damaging	Het
AI837181	T	C	19: 5,426,229	V140A	probably damaging	Het
Ankrd16	T	A	2: 11,783,632		probably null	Het
Arnt2	A	G	7: 84,343,751	S194P	probably benign	Het
Art2b	T	C	7: 101,579,946	N249D	probably benign	Het
Atat1	A	G	17: 35,909,340	L60P	probably damaging	Het
Atp2b1	A	T	10: 99,022,931	I1159F	probably damaging	Het
Atrip	T	A	9: 109,071,867	I135F	probably damaging	Het
Bbs4	T	G	9: 59,330,415		probably null	Het
Bdp1	A	T	13: 100,074,381		probably null	Het
Best2	A	G	8: 85,010,761		probably null	Het
Cacna1c	A	G	6: 118,606,266	I1516T	probably damaging	Het
Cadps2	T	C	6: 23,599,480	I276V	probably damaging	Het
Carmil3	T	C	14: 55,498,630	S610P	probably damaging	Het
Caskin1	A	G	17: 24,500,771	I375V	probably damaging	Het
Ccdc92b	A	G	11: 74,630,009	I46V	probably benign	Het
Clec11a	G	T	7: 44,304,674	T285K	probably benign	Het
Clk3	G	T	9: 57,765,186	T111K	probably benign	Het
Col6a6	G	A	9: 105,709,384	R1813C	probably damaging	Het
Col7a1	G	A	9: 108,960,010	V798I	unknown	Het
Ctrb1	C	A	8: 111,689,519	W45L	probably damaging	Het
Cubn	T	A	2: 13,278,538	S3530C	probably benign	Het
Dio1	A	G	4: 107,306,780		probably null	Het
Dock5	A	T	14: 67,757,135	Y1825*	probably null	Het
Duox1	A	T	2: 122,346,520	Q1476L	probably damaging	Het
Dync2h1	A	T	9: 7,001,377	H3877Q	probably damaging	Het
Enkd1	A	G	8: 105,707,576	S85P	probably damaging	Het
Erap1	A	G	13: 74,646,639	D139G	probably benign	Het
Ern1	A	G	11: 106,421,950	S202P	probably damaging	Het
F11r	T	C	1: 171,461,891	Y261H	probably damaging	Het
Fam129a	T	C	1: 151,696,228	I308T	probably damaging	Het
Glp2r	A	T	11: 67,746,792	S138T	probably benign	Het
Gm11127	A	G	17: 36,058,005	F61S	probably damaging	Het
Gm765	A	G	6: 98,248,190	I44T	probably benign	Het
Gm8251	G	A	1: 44,061,849	P30S	probably damaging	Het
Gpt2	A	G	8: 85,517,996	Y306C	probably damaging	Het
Grid2	G	C	6: 63,909,061	R147P	probably damaging	Het
Gtdc1	A	G	2: 44,752,186	F128L	possibly damaging	Het
Hacd4	T	C	4: 88,423,066	T154A	possibly damaging	Het
Heatr6	G	T	11: 83,769,220	L530F	probably damaging	Het
Hoxd8	A	T	2: 74,706,712	D256V	probably damaging	Het
Ints6	T	C	14: 62,693,640	N865D	probably benign	Het
Itpkc	G	T	7: 27,227,659	P277T	possibly damaging	Het
Klc4	T	C	17: 46,636,627	N383S	probably damaging	Het
Klra6	T	C	6: 130,018,945	Y150C	possibly damaging	Het
Krt32	T	A	11: 100,084,844		probably null	Het
Krt33a	T	C	11: 100,012,709	N199S	probably benign	Het
Krt39	A	C	11: 99,519,823	D174E	probably damaging	Het
Krt82	G	A	15: 101,548,535	R137W	probably damaging	Het
Lgmn	A	T	12: 102,401,924	S193T	probably damaging	Het
Limch1	G	A	5: 66,999,099	R300H	probably damaging	Het
Lrpap1	T	A	5: 35,097,630	I221F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Macf1	T	C	4: 123,370,666	D4883G	probably damaging	Het
Man2b2	A	G	5: 36,816,180	V485A	probably benign	Het
Megf6	C	G	4: 154,256,066	D471E	possibly damaging	Het
Mettl8	A	T	2: 70,973,279	F268L	probably damaging	Het
Miip	T	C	4: 147,865,965	E58G	probably benign	Het
Mycbp2	T	A	14: 103,229,404	S1308C	probably damaging	Het
Myo15	T	C	11: 60,502,083	F2194L	probably damaging	Het
Nav3	T	C	10: 109,716,530	N1817S	probably damaging	Het
Ndel1	A	T	11: 68,829,920	H313Q	probably benign	Het
Neb	A	T	2: 52,228,850	H3931Q	probably benign	Het
Nfkb2	T	A	19: 46,308,052	V253E	probably damaging	Het
Nono	T	C	X: 101,441,823		probably null	Het
Npc1l1	T	A	11: 6,214,588	I1154F	possibly damaging	Het
Nr2e1	T	C	10: 42,572,778	T155A	probably benign	Het
Olfr1359	A	T	13: 21,703,117	I39F	possibly damaging	Het
Oosp2	C	T	19: 11,649,595		probably null	Het
Pdap1	G	A	5: 145,132,916	T93I	probably benign	Het
Pde6c	T	A	19: 38,157,519	D418E	probably damaging	Het
Pdha1	T	A	X: 160,127,358	D255V	probably damaging	Het
Polr2h	T	A	16: 20,719,046	D64E	probably benign	Het
Psmb3	T	C	11: 97,711,155	F117S	probably benign	Het
Ptprq	A	T	10: 107,582,388	M1709K	probably benign	Het
Rbm15	C	T	3: 107,331,552	R510H	probably damaging	Het
Rgs7	A	T	1: 175,153,203	M85K	possibly damaging	Het
Rpl27-ps3	T	A	18: 6,332,669	V13D	probably damaging	Het
Rtp2	T	A	16: 23,927,566	D105V	possibly damaging	Het
Scd3	T	C	19: 44,235,780	Y151H	probably benign	Het
Slc30a6	T	G	17: 74,408,863	V106G	probably damaging	Het
Slco1a4	T	C	6: 141,839,550	I105V	probably benign	Het
Sun3	T	C	11: 9,038,296	I9V	probably benign	Het
Syne2	T	C	12: 76,074,544	V5928A	probably damaging	Het
Tbr1	T	A	2: 61,812,256	S622T	probably damaging	Het
Tgm3	A	G	2: 130,029,969	N306D	probably damaging	Het
Tmem132d	A	G	5: 127,783,764	*1098Q	probably null	Het
Tmem140	T	C	6: 34,872,812	Y88H	probably damaging	Het
Trim60	A	T	8: 65,001,312	V95E	possibly damaging	Het
Vamp3	A	G	4: 151,056,160		probably null	Het
Vmn1r235	A	C	17: 21,261,523	T37P	probably damaging	Het
Vmn2r81	T	G	10: 79,293,737	L821V	probably damaging	Het
Vmn2r97	A	G	17: 18,940,238	D545G	probably benign	Het
Vps13c	A	T	9: 67,886,276	D437V	probably damaging	Het
Wtip	A	T	7: 34,118,938	M268K	probably benign	Het
Zfhx2	G	T	14: 55,074,732	F168L	probably benign	Het
Zscan22	G	A	7: 12,903,840	R53K	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
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
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'- TGCACCTGTCACTTTCGGAAG -3'
(R):5'- CCCTGCTTTGGAACTTATAGACC -3'

Sequencing Primer
(F):5'- ACCTGTCACTTTCGGAAGACTGG -3'
(R):5'- GCTTTGGAACTTATAGACCACAGAC -3'

Posted On

2014-08-01