Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Map4k2'

500330

Institutional Source

Beutler Lab

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: 0.311) question?

Stock #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6391165-6405645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6391947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 87 (W87L)

Ref Sequence

ENSEMBL: ENSMUSP00000120123 (fasta)

Gene Model

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

AlphaFold

Q61161

Predicted Effect

probably damaging
Transcript: ENSMUST00000025897
AA Change: W87L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: W87L

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

probably damaging
Transcript: ENSMUST00000130382
AA Change: W87L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: W87L

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: ENSMUST00000134307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148410

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: 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: 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: ENSMUST00000113503

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

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

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: ENSMUST00000152349

SMART Domains

Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

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

Coding Region Coverage

1x: 99.4%
3x: 97.9%
10x: 90.8%
20x: 71.5%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,406,236 (GRCm39)	A71V	probably damaging	Het
Adamts12	T	C	15: 11,311,445 (GRCm39)	F1234S	probably benign	Het
Ahnak	A	G	19: 8,993,239 (GRCm39)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,378,797 (GRCm39)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 107,987,653 (GRCm39)		probably null	Het
Arhgef17	G	T	7: 100,578,866 (GRCm39)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,815,807 (GRCm39)	I398V	probably benign	Het
Ash1l	T	C	3: 88,959,372 (GRCm39)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,088,286 (GRCm39)	N385D	probably benign	Het
Atxn3	G	A	12: 101,892,758 (GRCm39)	R319C	possibly damaging	Het
Brca2	G	A	5: 150,475,723 (GRCm39)	A2478T	probably damaging	Het
C1s1	C	T	6: 124,508,090 (GRCm39)	C633Y	probably damaging	Het
C8g	C	T	2: 25,390,228 (GRCm39)	A6T	probably benign	Het
Cbl	A	T	9: 44,065,541 (GRCm39)	V706E	probably benign	Het
Ccdc121rt3	C	T	5: 112,502,630 (GRCm39)	G358D	probably benign	Het
Cfhr1	C	T	1: 139,485,312 (GRCm39)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm39)		probably null	Het
Chek1	G	T	9: 36,637,153 (GRCm39)	A2E	probably damaging	Het
Cntnap1	C	A	11: 101,071,186 (GRCm39)	F366L	probably damaging	Het
Corin	C	T	5: 72,460,133 (GRCm39)		probably null	Het
Crb2	T	C	2: 37,673,400 (GRCm39)	Y99H	probably damaging	Het
Ctdspl2	G	A	2: 121,834,410 (GRCm39)	R332K	probably benign	Het
Cym	G	A	3: 107,120,774 (GRCm39)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,275,936 (GRCm39)	C215Y	probably benign	Het
Dido1	G	A	2: 180,304,121 (GRCm39)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,840,160 (GRCm39)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,753,098 (GRCm39)	L503F	probably damaging	Het
Efhb	A	G	17: 53,744,206 (GRCm39)	F462L	probably damaging	Het
Enpep	T	A	3: 129,113,097 (GRCm39)	T203S	probably damaging	Het
Fat3	A	C	9: 16,286,778 (GRCm39)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,719,349 (GRCm39)	T49A	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	T	A	14: 124,913,951 (GRCm39)	K60M	probably benign	Het
Galnt4	A	G	10: 98,944,571 (GRCm39)	R99G	probably benign	Het
Gimap4	C	A	6: 48,668,216 (GRCm39)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm39)	T6I	probably damaging	Het
Gm10110	A	T	14: 90,135,511 (GRCm39)		noncoding transcript	Het
Gm4884	A	G	7: 40,692,552 (GRCm39)	K174E	probably damaging	Het
Grip2	A	T	6: 91,765,424 (GRCm39)	D19E	probably damaging	Het
Grk4	T	C	5: 34,852,094 (GRCm39)	S113P	probably benign	Het
Hectd3	G	A	4: 116,853,763 (GRCm39)	E220K	probably damaging	Het
Helz2	G	A	2: 180,878,090 (GRCm39)	P903S	probably damaging	Het
Hydin	T	A	8: 111,259,585 (GRCm39)	V2519E	possibly damaging	Het
Ints11	G	A	4: 155,972,567 (GRCm39)		probably null	Het
Kif1a	A	G	1: 92,982,651 (GRCm39)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,307,709 (GRCm39)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,927,999 (GRCm39)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,664,232 (GRCm39)	I527T	probably damaging	Het
Klra10	T	A	6: 130,256,278 (GRCm39)	R125S	probably damaging	Het
Klra10	T	C	6: 130,256,394 (GRCm39)	N87D	probably damaging	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,558,588 (GRCm39)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,370,423 (GRCm39)		probably null	Het
Mccc1	A	G	3: 36,028,435 (GRCm39)	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788 (GRCm39)	S2886T	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,829,235 (GRCm39)	Y21*	probably null	Het
Mrps35	C	T	6: 146,957,482 (GRCm39)	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,687,430 (GRCm39)	D492V	probably damaging	Het
Muc2	A	G	7: 141,302,711 (GRCm39)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,574,886 (GRCm39)	G1157D	probably benign	Het
Myg1	T	A	15: 102,245,825 (GRCm39)	L275Q	probably damaging	Het
Naga	T	A	15: 82,218,989 (GRCm39)	M237L	probably null	Het
Oc90	T	A	15: 65,769,569 (GRCm39)	Y96F	probably damaging	Het
Or12d13	A	T	17: 37,647,847 (GRCm39)	L92H	probably benign	Het
Or13a18	A	G	7: 140,190,882 (GRCm39)	I268V	probably benign	Het
Or4a80	C	T	2: 89,582,611 (GRCm39)	C187Y	probably damaging	Het
Or5m11b	T	A	2: 85,806,339 (GRCm39)	F251I	probably damaging	Het
Or6ae1	A	G	7: 139,742,116 (GRCm39)	V249A	probably damaging	Het
Orc4	A	T	2: 48,799,506 (GRCm39)	C324S	possibly damaging	Het
Pcdh10	T	G	3: 45,334,409 (GRCm39)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,668,418 (GRCm39)	S857P	probably benign	Het
Plec	C	T	15: 76,070,108 (GRCm39)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,961,125 (GRCm39)	V149D	probably benign	Het
Ppef1	C	A	X: 159,408,670 (GRCm39)		probably null	Het
Prkaa1	C	A	15: 5,208,279 (GRCm39)	P507T	probably benign	Het
Ptch1	A	G	13: 63,672,783 (GRCm39)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,312,559 (GRCm39)	I434V	probably benign	Het
Rfx5	T	A	3: 94,863,614 (GRCm39)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,400,296 (GRCm39)	K126*	probably null	Het
Rpl3l	A	G	17: 24,949,845 (GRCm39)	I15V	probably benign	Het
Saal1	G	T	7: 46,351,969 (GRCm39)		probably null	Het
Sbpl	A	C	17: 24,172,228 (GRCm39)	D230E	unknown	Het
Scn10a	T	C	9: 119,495,556 (GRCm39)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,321,169 (GRCm39)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,839,393 (GRCm39)	D824E	possibly damaging	Het
Slc25a36	A	G	9: 96,962,408 (GRCm39)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,335,522 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,897 (GRCm39)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,310,114 (GRCm39)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,091,528 (GRCm39)	R999H	probably benign	Het
St3gal3	A	C	4: 117,964,859 (GRCm39)	M1R	probably null	Het
Syp	A	T	X: 7,514,944 (GRCm39)		probably benign	Het
Tas1r2	A	G	4: 139,396,722 (GRCm39)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,691,048 (GRCm39)	Q118L	probably benign	Het
Thoc2l	T	A	5: 104,666,123 (GRCm39)	I215N	probably damaging	Het
Tph2	T	C	10: 114,915,600 (GRCm39)	N480S	probably benign	Het
Tsc2	A	T	17: 24,827,947 (GRCm39)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,479,977 (GRCm39)	F77S	probably damaging	Het
Uaca	C	T	9: 60,761,603 (GRCm39)	A205V	possibly damaging	Het
Uhmk1	A	T	1: 170,036,222 (GRCm39)		probably null	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,367,388 (GRCm39)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,129,721 (GRCm39)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,512,408 (GRCm39)	T288N	possibly damaging	Het
Zfp93	T	C	7: 23,975,521 (GRCm39)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,815,505 (GRCm39)	P2942S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCTCGGCAAGGAGAGAAATAC -3'
(R):5'- AGGCACCACTACAGCAAAGTGATG -3'

Sequencing Primer
(F):5'- GCTCATTTTGCACATAGGGACAG -3'
(R):5'- tgagcccagaggaggatag -3'

Posted On

2017-12-01