Mutagenetix > Incidental Mutation

Incidental Mutation 'R7414:Map3k19'

575258

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

045494-MU

Accession Numbers

Essential gene?

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

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127815253-127855031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127838452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 245 (I245T)

Ref Sequence

ENSEMBL: ENSMUSP00000146463 (fasta)

Gene Model

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

AlphaFold

E9Q3S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061512
AA Change: I41T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I41T

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

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: I51T

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

SMART Domains

Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: I51T

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: I51T

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 damaging
Transcript: ENSMUST00000208183
AA Change: I245T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.2387

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,024	T90M	probably damaging	Het
4922502D21Rik	T	C	6: 129,325,633	T144A	probably benign	Het
Abca4	T	A	3: 122,102,738	S540T	probably benign	Het
Adcy4	G	A	14: 55,781,633	L156F	probably benign	Het
Adcyap1	T	A	17: 93,202,828	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,784,105	T567A	probably benign	Het
Ankrd26	T	C	6: 118,508,780	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,667,380	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,359,514	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,540,956	D1126G	possibly damaging	Het
Bap1	G	C	14: 31,253,615	G139R	probably benign	Het
Bms1	C	T	6: 118,383,745	R1254Q	possibly damaging	Het
C330027C09Rik	T	C	16: 49,001,635	F209L	probably benign	Het
Ceacam15	A	G	7: 16,673,310	V94A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clock	T	C	5: 76,262,764	T87A	probably benign	Het
Cntrl	A	T	2: 35,165,467	I1706L	probably benign	Het
Cr2	C	A	1: 195,150,036	V981L	probably benign	Het
Cxcr6	G	A	9: 123,810,222	W103*	probably null	Het
Dld	A	T	12: 31,335,526	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,673,586	D45E	probably benign	Het
Eif2a	T	A	3: 58,526,081	L8*	probably null	Het
Epg5	G	T	18: 77,983,532	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,752,857	C350*	probably null	Het
Fam135b	C	T	15: 71,478,256	R345Q	probably damaging	Het
Fam196a	G	T	7: 134,918,009	A264D	probably benign	Het
Fbn2	C	T	18: 58,096,050	R696H	probably damaging	Het
Gbf1	C	A	19: 46,283,358	Y159*	probably null	Het
Gcsam	T	C	16: 45,616,938		probably null	Het
Gmpr2	G	T	14: 55,672,802		probably null	Het
H2-T3	C	A	17: 36,187,383	V257L	not run	Het
Hadha	A	G	5: 30,126,612	F449L	possibly damaging	Het
Haus3	T	A	5: 34,166,133	I378L	probably benign	Het
Hdac7	T	A	15: 97,808,511	H272L	probably benign	Het
Icam5	T	C	9: 21,037,593	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,590,171	V81M	possibly damaging	Het
Ipcef1	G	T	10: 6,890,673	C345*	probably null	Het
Ipmk	T	A	10: 71,381,294	F223I	probably damaging	Het
Itpr2	A	T	6: 146,373,208	N825K	probably benign	Het
Kazn	G	A	4: 142,109,338	T530I		Het
Kmt2d	C	T	15: 98,839,856	V5120M	unknown	Het
Krt6b	T	G	15: 101,679,014	D215A	probably benign	Het
Lgals12	T	C	19: 7,603,970	K124R	probably damaging	Het
Lpar6	T	A	14: 73,238,800	V67D	probably damaging	Het
Lrch3	T	C	16: 32,998,513	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,499,994	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,953,754	H161Q	probably benign	Het
Mcf2l	T	A	8: 13,019,022	*1119K	probably null	Het
Mertk	C	A	2: 128,729,393	A89E	possibly damaging	Het
Mical3	A	T	6: 121,034,113	Y375N	probably damaging	Het
Myo15	T	A	11: 60,483,483	D121E		Het
N4bp2l1	T	A	5: 150,576,293	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,194,597		probably null	Het
Nlrp12	A	T	7: 3,241,347	D178E	probably benign	Het
Nt5c2	C	A	19: 46,889,889	G444C	probably damaging	Het
Olfr38	T	A	6: 42,762,828	Y259N	probably damaging	Het
Olfr912	T	C	9: 38,581,468	F64L	probably benign	Het
Olfr978	T	A	9: 39,994,053	M81K	possibly damaging	Het
Pdcl2	A	C	5: 76,312,512	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,578,235	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,916,267	N979K		Het
Prkcb	A	T	7: 122,568,227	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,637,152		probably benign	Het
Sbf2	C	T	7: 110,314,064	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,423,631	T455P		Het
Sec24b	C	A	3: 130,009,865	V412F	probably benign	Het
Serpina3b	A	G	12: 104,132,886	N220S	probably benign	Het
Sgip1	C	T	4: 102,967,624	Q581*	probably null	Het
Shf	A	T	2: 122,359,582	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,141,996	T14M	probably benign	Het
Slc22a4	A	T	11: 53,997,428	M258K	probably benign	Het
Slfn8	A	T	11: 83,016,792	Y308*	probably null	Het
Slfnl1	T	C	4: 120,535,254	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,475,079	Y29C	probably damaging	Het
Snai1	C	A	2: 167,538,668		probably null	Het
Sntg1	T	C	1: 8,448,065	Y368C	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spop	G	A	11: 95,474,508	V126M	probably damaging	Het
Ssfa2	A	G	2: 79,644,728	K344E	possibly damaging	Het
Taar3	A	T	10: 23,949,817	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,496,802	M177I	probably benign	Het
Tcerg1l	A	G	7: 138,218,057	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,628,980	I435F	probably damaging	Het
Tiam2	A	G	17: 3,414,113	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,593,821	V15A	probably benign	Het
Tll2	T	C	19: 41,103,829	D523G	probably damaging	Het
Tmem117	A	G	15: 94,714,895	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,787,491	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,614,905	V132D	probably damaging	Het
Tomt	T	A	7: 101,900,508	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,242,222	M373V	probably damaging	Het
Ttn	A	C	2: 76,742,786	V25921G	probably damaging	Het
Ttn	G	A	2: 76,738,149	P27467S	possibly damaging	Het
Ubxn2a	A	C	12: 4,891,381	V75G	probably damaging	Het
Uchl5	A	T	1: 143,806,695	K319N	unknown	Het
Ugt2b1	T	C	5: 86,925,834	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,011,276	I10V	unknown	Het
Vps13b	T	C	15: 35,910,827	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,221,369	H443Q	probably benign	Het
Zfp316	A	G	5: 143,264,652	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,517,432	T160A	possibly 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
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
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'- AAATAGTAGGTTGACCAGACATTTC -3'
(R):5'- TGTTGAACCAAAATCTAACTCTTGG -3'

Sequencing Primer
(F):5'- CCTGGTATCTTTGGCGATCAGAAAAG -3'
(R):5'- AATTCATGTGTGTGAAGTATGTATGC -3'

Posted On

2019-10-07