Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Map3k19'

639709

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127815253-127855031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127823791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 303 (I303F)

Gene Model

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

AlphaFold

E9Q3S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061512
AA Change: I404F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: I404F

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: I303F

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 damaging
Transcript: ENSMUST00000208183
AA Change: I608F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Esyt2	A	C	12: 116,365,920	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Slfn5	A	T	11: 82,956,550	D87V	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Togaram1	A	G	12: 64,995,556	I1130V	probably benign	Het
Ttf1	A	G	2: 29,064,677	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	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
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
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'- TCCAGGGAATGCGATGTGAG -3'
(R):5'- GGTACCATGTTAGTGAGATGCAAAG -3'

Sequencing Primer
(F):5'- ATGTGAGTAAGCGGCACCACC -3'
(R):5'- CATGTTAGTGAGATGCAAAGAGGGG -3'

Posted On

2020-07-28