Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Map4k2'

420369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map4k2

Ensembl Gene

ENSMUSG00000024948

Gene Name

mitogen-activated protein kinase kinase kinase kinase 2

Synonyms

BL44, Rab8ip

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

6391165-6405645 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 6392279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q61161

Predicted Effect

probably benign
Transcript: ENSMUST00000025897

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948

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: ENSMUST00000124333

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

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

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

probably benign
Transcript: ENSMUST00000130382

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948

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: ENSMUST00000148410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126841

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: ENSMUST00000152349

SMART Domains

Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	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
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
R3896:Map4k2	UTSW	19	6,391,958 (GRCm39)	nonsense	probably null
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

Posted On

2016-08-02