Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01443:Map3k19'

84316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01443

Quality Score

Status

Chromosome

Chromosomal Location

127742528-127782768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127766244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 227 (S227P)

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: S23P

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: S23P

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: S33P

SMART Domains

Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: S33P

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: S33P

SMART Domains

Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: S33P

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: S33P

SMART Domains

Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: S33P

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: S227P

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,694,690 (GRCm39)	E1159G	possibly damaging	Het
Adgrl3	A	G	5: 81,613,134 (GRCm39)	Y189C	probably damaging	Het
AW554918	G	A	18: 25,478,012 (GRCm39)	G446R	probably damaging	Het
Baiap3	A	G	17: 25,464,121 (GRCm39)	F884S	possibly damaging	Het
Cd101	T	C	3: 100,910,887 (GRCm39)	T924A	probably benign	Het
Cdk12	T	A	11: 98,136,295 (GRCm39)	V1183E	unknown	Het
Clcc1	T	C	3: 108,578,219 (GRCm39)	M240T	probably benign	Het
Dnmbp	C	A	19: 43,891,309 (GRCm39)	A153S	probably damaging	Het
Dus4l	T	C	12: 31,702,409 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,485,943 (GRCm39)	E430G	probably benign	Het
Erc1	T	C	6: 119,801,432 (GRCm39)	K195R	probably damaging	Het
Evpl	T	C	11: 116,113,280 (GRCm39)	E1470G	probably damaging	Het
Extl3	A	T	14: 65,314,919 (GRCm39)	S88T	probably damaging	Het
Fam135b	A	T	15: 71,335,213 (GRCm39)	H660Q	probably benign	Het
Fat1	G	A	8: 45,493,613 (GRCm39)	G3920S	probably damaging	Het
Fbxo38	A	G	18: 62,666,741 (GRCm39)	V144A	probably damaging	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,358,796 (GRCm39)	T252A	probably damaging	Het
Igkv3-1	A	G	6: 70,681,088 (GRCm39)	S96G	possibly damaging	Het
Igkv4-68	G	T	6: 69,281,921 (GRCm39)	F83L	probably damaging	Het
Klhl31	T	C	9: 77,557,542 (GRCm39)	V86A	possibly damaging	Het
Lypd3	G	A	7: 24,336,063 (GRCm39)	G17R	probably benign	Het
Manba	T	A	3: 135,250,589 (GRCm39)	D405E	probably damaging	Het
Nras	T	A	3: 102,969,751 (GRCm39)	C118S	probably benign	Het
Or52n20	A	G	7: 104,320,278 (GRCm39)	D123G	probably damaging	Het
Pde8a	T	C	7: 80,973,929 (GRCm39)	F629L	probably damaging	Het
Phtf2	A	G	5: 20,987,265 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 116,017,429 (GRCm39)	F109L	probably benign	Het
Plod3	G	A	5: 137,019,075 (GRCm39)	R320H	probably benign	Het
Ppib	T	C	9: 65,972,879 (GRCm39)	F152L	probably damaging	Het
Rbm19	T	C	5: 120,281,503 (GRCm39)		probably benign	Het
Rgs12	T	A	5: 35,132,563 (GRCm39)	S628R	probably benign	Het
Ripk1	A	G	13: 34,199,251 (GRCm39)	D201G	probably damaging	Het
Speer4c2	A	G	5: 15,857,642 (GRCm39)	*212Q	probably null	Het
St14	G	T	9: 31,011,489 (GRCm39)	S434*	probably null	Het
Tbc1d9	A	G	8: 83,966,560 (GRCm39)	D387G	probably damaging	Het
Trio	A	G	15: 27,838,861 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,544,215 (GRCm39)	R32924C	probably damaging	Het
Vmn1r181	T	C	7: 23,684,006 (GRCm39)	V157A	possibly damaging	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	probably damaging	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
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
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

Posted On

2013-11-11