Mutagenetix > Incidental Mutation

Incidental Mutation 'R3896:Map4k2'

310566

Institutional Source

Beutler Lab

Gene Symbol

Map4k2

Ensembl Gene

ENSMUSG00000024948

Gene Name

mitogen-activated protein kinase kinase kinase kinase 2

Synonyms

BL44, Rab8ip

MMRRC Submission

040807-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R3896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6391165-6405645 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 6391958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 91 (E91*)

Ref Sequence

ENSEMBL: ENSMUSP00000120123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000130382] [ENSMUST00000124556] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000170132] [ENSMUST00000166909]

AlphaFold

Q61161

Predicted Effect

probably null
Transcript: ENSMUST00000025897
AA Change: E91*

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: E91*

Domain	Start	End	E-Value	Type
S_TKc	16	273	2.41e-90	SMART
low complexity region	358	369	N/A	INTRINSIC
low complexity region	425	444	N/A	INTRINSIC
CNH	488	801	1.31e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056391

SMART Domains

Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078137

SMART Domains

Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	396	2.6e-241	PFAM
Pfam:Menin	392	556	1.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079327

SMART Domains

Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113500

SMART Domains

Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113501

SMART Domains

Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	183	2.6e-104	PFAM
Pfam:Menin	184	576	3.2e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113502

SMART Domains

Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	7	515	1.5e-254	PFAM
Pfam:Menin	536	615	4.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

probably null
Transcript: ENSMUST00000130382
AA Change: E91*

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: E91*

Domain	Start	End	E-Value	Type
S_TKc	16	233	3.4e-14	SMART
low complexity region	314	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137095

Predicted Effect

probably benign
Transcript: ENSMUST00000124556

SMART Domains

Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128170

SMART Domains

Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:CNH	2	142	3.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113503

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	616	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113504

SMART Domains

Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142496

SMART Domains

Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184812

Predicted Effect

probably benign
Transcript: ENSMUST00000152349

SMART Domains

Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	57	3.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170132

SMART Domains

Protein: ENSMUSP00000126655
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	135	1.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170292

SMART Domains

Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	4	106	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166909

SMART Domains

Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	62	8.9e-29	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	T	3: 146,356,868 (GRCm39)	N13K	possibly damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arhgap20	A	T	9: 51,728,137 (GRCm39)	I117F	probably damaging	Het
Asz1	A	G	6: 18,075,766 (GRCm39)	I269T	probably benign	Het
Atp8a2	C	A	14: 60,263,589 (GRCm39)		probably null	Het
Atp8b2	A	T	3: 89,864,626 (GRCm39)	I163K	probably damaging	Het
Casd1	T	A	6: 4,640,980 (GRCm39)	F700L	probably damaging	Het
Ccdc80	A	G	16: 44,916,984 (GRCm39)	D580G	probably benign	Het
Cog7	C	T	7: 121,540,392 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,130,722 (GRCm39)	V112A	possibly damaging	Het
D130040H23Rik	T	A	8: 69,755,610 (GRCm39)	C356S	probably damaging	Het
Emb	A	G	13: 117,409,598 (GRCm39)	*331W	probably null	Het
Enpp3	A	C	10: 24,653,847 (GRCm39)	S703R	possibly damaging	Het
Fam13b	T	C	18: 34,596,008 (GRCm39)		probably benign	Het
Foxp1	T	A	6: 99,052,897 (GRCm39)	Q97L	probably benign	Het
Gdf10	A	T	14: 33,656,438 (GRCm39)	N467Y	probably damaging	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,192,650 (GRCm39)	S522P	possibly damaging	Het
Hydin	T	A	8: 111,235,711 (GRCm39)	F1899I	possibly damaging	Het
Ints1	C	A	5: 139,743,399 (GRCm39)	E1658*	probably null	Het
Jakmip2	A	T	18: 43,682,751 (GRCm39)	F691Y	probably benign	Het
Klhl28	A	G	12: 65,004,333 (GRCm39)	F60S	probably damaging	Het
Loxhd1	C	T	18: 77,469,719 (GRCm39)	S992L	possibly damaging	Het
Lrp1b	A	T	2: 40,812,440 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,364,987 (GRCm39)	I3258N	possibly damaging	Het
Matcap1	T	A	8: 106,009,920 (GRCm39)	H343L	probably benign	Het
Myo1b	A	T	1: 51,812,420 (GRCm39)	V739E	probably damaging	Het
Naa35	C	T	13: 59,755,109 (GRCm39)	T185I	probably damaging	Het
Or10v9	T	C	19: 11,832,951 (GRCm39)	D122G	probably damaging	Het
Or4c15b	A	G	2: 89,113,441 (GRCm39)	F33S	possibly damaging	Het
Reg4	A	T	3: 98,132,082 (GRCm39)		probably benign	Het
Rnaseh2b	A	C	14: 62,597,906 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,946,302 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,933,379 (GRCm39)	M1528L	probably benign	Het
Sdr16c5	T	A	4: 4,006,609 (GRCm39)	T228S	probably damaging	Het
Sgo2a	T	C	1: 58,052,805 (GRCm39)	C202R	probably damaging	Het
Slc25a46	A	G	18: 31,716,725 (GRCm39)	L259P	probably damaging	Het
Slc4a4	A	G	5: 89,345,625 (GRCm39)		probably benign	Het
Sox14	G	T	9: 99,757,636 (GRCm39)	H34Q	probably damaging	Het
Syna	T	A	5: 134,587,165 (GRCm39)	K595*	probably null	Het
Taf4	A	G	2: 179,573,807 (GRCm39)	V687A	probably benign	Het
Tmbim7	C	T	5: 3,711,916 (GRCm39)	H54Y	probably benign	Het
Vmn1r212	T	C	13: 23,068,067 (GRCm39)	M89V	probably benign	Het
Vmn1r86	T	C	7: 12,836,093 (GRCm39)	Y261C	probably benign	Het
Xkr4	A	G	1: 3,286,414 (GRCm39)	I592T	probably damaging	Het
Ywhah	A	G	5: 33,184,349 (GRCm39)	Y184C	probably damaging	Het
Zkscan16	C	T	4: 58,946,125 (GRCm39)		probably benign	Het

Other mutations in Map4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Map4k2	APN	19	6,395,623 (GRCm39)	splice site	probably null
IGL02041:Map4k2	APN	19	6,401,348 (GRCm39)	missense	probably benign	0.45
IGL03372:Map4k2	APN	19	6,392,279 (GRCm39)	unclassified	probably benign
IGL03380:Map4k2	APN	19	6,394,620 (GRCm39)	missense	possibly damaging	0.83
R0968:Map4k2	UTSW	19	6,395,487 (GRCm39)	missense	probably damaging	0.98
R1466:Map4k2	UTSW	19	6,391,947 (GRCm39)	missense	probably damaging	1.00
R1466:Map4k2	UTSW	19	6,391,947 (GRCm39)	missense	probably damaging	1.00
R1612:Map4k2	UTSW	19	6,393,371 (GRCm39)	missense	probably damaging	1.00
R2069:Map4k2	UTSW	19	6,392,768 (GRCm39)	unclassified	probably benign
R2370:Map4k2	UTSW	19	6,391,958 (GRCm39)	nonsense	probably null
R3080:Map4k2	UTSW	19	6,403,218 (GRCm39)	missense	probably damaging	0.99
R3825:Map4k2	UTSW	19	6,394,081 (GRCm39)	missense	probably benign	0.29
R4088:Map4k2	UTSW	19	6,403,186 (GRCm39)	missense	probably damaging	0.99
R4817:Map4k2	UTSW	19	6,394,459 (GRCm39)	missense	probably damaging	0.97
R4888:Map4k2	UTSW	19	6,394,033 (GRCm39)	missense	probably benign	0.07
R5226:Map4k2	UTSW	19	6,396,534 (GRCm39)	unclassified	probably benign
R5544:Map4k2	UTSW	19	6,395,944 (GRCm39)	critical splice acceptor site	probably null
R5687:Map4k2	UTSW	19	6,395,672 (GRCm39)	unclassified	probably benign
R5688:Map4k2	UTSW	19	6,396,836 (GRCm39)	missense	probably damaging	1.00
R5726:Map4k2	UTSW	19	6,401,362 (GRCm39)	missense	probably damaging	0.99
R5750:Map4k2	UTSW	19	6,401,367 (GRCm39)	missense	probably benign	0.15
R5908:Map4k2	UTSW	19	6,401,346 (GRCm39)	splice site	probably benign
R6402:Map4k2	UTSW	19	6,394,111 (GRCm39)	critical splice donor site	probably null
R6843:Map4k2	UTSW	19	6,403,477 (GRCm39)	missense	probably damaging	0.98
R6942:Map4k2	UTSW	19	6,396,739 (GRCm39)	missense	possibly damaging	0.95
R7227:Map4k2	UTSW	19	6,396,624 (GRCm39)	missense	probably damaging	1.00
R7573:Map4k2	UTSW	19	6,394,094 (GRCm39)	missense	probably benign
R7632:Map4k2	UTSW	19	6,394,084 (GRCm39)	missense	probably benign
R7893:Map4k2	UTSW	19	6,403,541 (GRCm39)	missense	probably damaging	0.98
R8257:Map4k2	UTSW	19	6,396,030 (GRCm39)	missense	probably benign	0.00
R8331:Map4k2	UTSW	19	6,402,853 (GRCm39)	missense	probably damaging	1.00
R8343:Map4k2	UTSW	19	6,396,596 (GRCm39)	missense	probably damaging	1.00
R8795:Map4k2	UTSW	19	6,401,640 (GRCm39)	missense	probably damaging	1.00
R9351:Map4k2	UTSW	19	6,401,223 (GRCm39)	missense	probably benign	0.01
R9414:Map4k2	UTSW	19	6,394,515 (GRCm39)	missense	probably benign	0.00
R9442:Map4k2	UTSW	19	6,392,814 (GRCm39)	missense	probably damaging	1.00
X0010:Map4k2	UTSW	19	6,403,348 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTCTCTTCAGCAGGAAATC -3'
(R):5'- ACTACAGCAAAGTGATGTTAGCC -3'

Sequencing Primer
(F):5'- GGAAATCACCATCCTTCGTGAATG -3'
(R):5'- AAATTTCTTCCAGACTCAGGCTGG -3'

Posted On

2015-04-17