Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Map4k4'

193152

Institutional Source

Beutler Lab

Gene Symbol

Map4k4

Ensembl Gene

ENSMUSG00000026074

Gene Name

mitogen-activated protein kinase kinase kinase kinase 4

Synonyms

9430080K19Rik, Nik

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1763 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

39900913-40026310 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 40000757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163854] [ENSMUST00000168431] [ENSMUST00000191964] [ENSMUST00000192509] [ENSMUST00000193682] [ENSMUST00000195259] [ENSMUST00000195636] [ENSMUST00000195860]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000163854

SMART Domains

Protein: ENSMUSP00000126961
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	687	698	N/A	INTRINSIC
low complexity region	721	747	N/A	INTRINSIC
low complexity region	754	763	N/A	INTRINSIC
low complexity region	811	837	N/A	INTRINSIC
low complexity region	891	904	N/A	INTRINSIC
low complexity region	919	929	N/A	INTRINSIC
CNH	970	1268	2.76e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168431

SMART Domains

Protein: ENSMUSP00000129796
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	633	644	N/A	INTRINSIC
low complexity region	667	693	N/A	INTRINSIC
low complexity region	700	709	N/A	INTRINSIC
low complexity region	757	783	N/A	INTRINSIC
low complexity region	837	850	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
CNH	916	1214	2.76e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191865

Predicted Effect

probably benign
Transcript: ENSMUST00000191964

SMART Domains

Protein: ENSMUSP00000141235
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
low complexity region	4	28	N/A	INTRINSIC
SCOP:d1i7qa_	35	139	7e-3	SMART
low complexity region	195	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192355

Predicted Effect

probably benign
Transcript: ENSMUST00000192509

SMART Domains

Protein: ENSMUSP00000141665
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	633	644	N/A	INTRINSIC
low complexity region	667	693	N/A	INTRINSIC
low complexity region	700	709	N/A	INTRINSIC
low complexity region	757	783	N/A	INTRINSIC
low complexity region	837	850	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
CNH	916	1214	2.76e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193682

SMART Domains

Protein: ENSMUSP00000141862
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	590	616	N/A	INTRINSIC
low complexity region	623	632	N/A	INTRINSIC
low complexity region	680	706	N/A	INTRINSIC
low complexity region	785	814	N/A	INTRINSIC
low complexity region	824	837	N/A	INTRINSIC
low complexity region	852	862	N/A	INTRINSIC
CNH	903	1201	2.76e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195259

SMART Domains

Protein: ENSMUSP00000142056
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	610	621	N/A	INTRINSIC
low complexity region	644	670	N/A	INTRINSIC
low complexity region	677	686	N/A	INTRINSIC
low complexity region	731	757	N/A	INTRINSIC
low complexity region	811	824	N/A	INTRINSIC
low complexity region	839	849	N/A	INTRINSIC
CNH	890	1188	2.76e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195356

Predicted Effect

probably benign
Transcript: ENSMUST00000195636

SMART Domains

Protein: ENSMUSP00000141613
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	3.4e-97	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	610	621	N/A	INTRINSIC
low complexity region	644	670	N/A	INTRINSIC
low complexity region	677	686	N/A	INTRINSIC
low complexity region	731	757	N/A	INTRINSIC
low complexity region	836	865	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	903	913	N/A	INTRINSIC
CNH	954	1252	1.4e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195860

SMART Domains

Protein: ENSMUSP00000141400
Gene: ENSMUSG00000026074

Domain	Start	End	E-Value	Type
S_TKc	25	289	6.87e-95	SMART
low complexity region	318	342	N/A	INTRINSIC
coiled coil region	357	494	N/A	INTRINSIC
low complexity region	503	512	N/A	INTRINSIC
low complexity region	687	698	N/A	INTRINSIC
low complexity region	721	747	N/A	INTRINSIC
low complexity region	754	763	N/A	INTRINSIC
low complexity region	811	837	N/A	INTRINSIC
low complexity region	891	904	N/A	INTRINSIC
low complexity region	919	929	N/A	INTRINSIC
CNH	970	1268	2.76e-127	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos around day E9.5-10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly damaging	Het

Other mutations in Map4k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Map4k4	APN	1	40004816	missense	probably damaging	0.99
IGL00417:Map4k4	APN	1	40014532	missense	possibly damaging	0.92
IGL00516:Map4k4	APN	1	40014602	missense	probably damaging	1.00
IGL01545:Map4k4	APN	1	40014229	splice site	probably benign
IGL02092:Map4k4	APN	1	39986783	missense	probably benign	0.12
IGL02092:Map4k4	APN	1	40024348	missense	probably damaging	1.00
IGL02570:Map4k4	APN	1	39980579	missense	probably benign	0.06
IGL02626:Map4k4	APN	1	40014097	splice site	probably benign
IGL02993:Map4k4	APN	1	40014188	missense	probably damaging	0.98
IGL03178:Map4k4	APN	1	39986693	missense	possibly damaging	0.63
tank	UTSW	1	40004864	missense	possibly damaging	0.93
IGL02835:Map4k4	UTSW	1	40010600	missense	probably damaging	0.99
R0496:Map4k4	UTSW	1	40006822	missense	probably damaging	0.99
R0498:Map4k4	UTSW	1	39990178	missense	probably benign	0.22
R0588:Map4k4	UTSW	1	40004864	missense	possibly damaging	0.93
R0674:Map4k4	UTSW	1	40003815	missense	probably damaging	1.00
R1205:Map4k4	UTSW	1	40003844	missense	probably damaging	1.00
R1349:Map4k4	UTSW	1	40021159	missense	probably damaging	1.00
R1615:Map4k4	UTSW	1	40006830	splice site	probably benign
R1800:Map4k4	UTSW	1	40023460	missense	probably damaging	1.00
R1893:Map4k4	UTSW	1	40001557	missense	probably benign	0.08
R2411:Map4k4	UTSW	1	40007496	missense	probably damaging	0.96
R2851:Map4k4	UTSW	1	40000755	splice site	probably benign
R2852:Map4k4	UTSW	1	40000755	splice site	probably benign
R2987:Map4k4	UTSW	1	39986765	missense	probably damaging	1.00
R3087:Map4k4	UTSW	1	40021082	critical splice acceptor site	probably null
R3688:Map4k4	UTSW	1	39985171	splice site	probably null
R4075:Map4k4	UTSW	1	40023462	missense	probably damaging	0.96
R4304:Map4k4	UTSW	1	39973972	missense	possibly damaging	0.74
R4564:Map4k4	UTSW	1	39988975	missense	probably damaging	1.00
R4569:Map4k4	UTSW	1	40000538	missense	probably damaging	1.00
R4613:Map4k4	UTSW	1	40017191	missense	probably benign	0.05
R4715:Map4k4	UTSW	1	40019564	missense	probably damaging	1.00
R4788:Map4k4	UTSW	1	40003916	missense	probably benign	0.01
R4926:Map4k4	UTSW	1	40017225	missense	probably damaging	1.00
R4943:Map4k4	UTSW	1	40019594	missense	probably damaging	0.99
R5033:Map4k4	UTSW	1	40007502	missense	probably damaging	0.99
R5177:Map4k4	UTSW	1	39986762	missense	probably damaging	1.00
R5297:Map4k4	UTSW	1	39962217	missense	probably damaging	1.00
R5844:Map4k4	UTSW	1	39999876	splice site	probably benign
R5952:Map4k4	UTSW	1	39999922	unclassified	probably benign
R6111:Map4k4	UTSW	1	40011662	missense	probably benign	0.00
R6125:Map4k4	UTSW	1	40003965	missense	possibly damaging	0.77
R6838:Map4k4	UTSW	1	39976722	missense	probably damaging	1.00
R6927:Map4k4	UTSW	1	40011682	missense	probably benign	0.00
R7008:Map4k4	UTSW	1	39988971	missense	probably benign	0.44
R7164:Map4k4	UTSW	1	39973972	missense	possibly damaging	0.74
R7195:Map4k4	UTSW	1	40019669	missense	possibly damaging	0.93
R7352:Map4k4	UTSW	1	39962227	missense	unknown
R7589:Map4k4	UTSW	1	40021091	nonsense	probably null
R7816:Map4k4	UTSW	1	40014208	missense	possibly damaging	0.53
R7869:Map4k4	UTSW	1	39974044	missense	unknown
R8013:Map4k4	UTSW	1	39962212	missense	unknown
R8145:Map4k4	UTSW	1	40000534	missense
R8154:Map4k4	UTSW	1	40021142	nonsense	probably null
R8254:Map4k4	UTSW	1	40006675	missense	probably damaging	0.99
R8266:Map4k4	UTSW	1	40011653	missense	possibly damaging	0.53
R8375:Map4k4	UTSW	1	40024641	missense	possibly damaging	0.73
R8487:Map4k4	UTSW	1	39988976	missense	probably damaging	1.00
R8699:Map4k4	UTSW	1	39976750	missense	unknown
R8726:Map4k4	UTSW	1	40003982	missense	possibly damaging	0.95
R8907:Map4k4	UTSW	1	40019610	missense	probably damaging	0.97
R8956:Map4k4	UTSW	1	40000680	missense	probably benign	0.11
R8963:Map4k4	UTSW	1	40000580	missense	probably damaging	1.00
R9091:Map4k4	UTSW	1	40003763	missense	probably benign	0.02
R9234:Map4k4	UTSW	1	39990101	missense	unknown
R9270:Map4k4	UTSW	1	40003763	missense	probably benign	0.02
R9438:Map4k4	UTSW	1	40006792	missense	probably damaging	0.99
R9689:Map4k4	UTSW	1	40019562	missense	possibly damaging	0.95
R9771:Map4k4	UTSW	1	39986717	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAGAGGTATCAGGTTCACAGTGC -3'
(R):5'- GTAAGGCTAAAAGTCCACTGCCTCC -3'

Sequencing Primer
(F):5'- aaaaaaaaaaaaCCAAAGCCAAGAAG -3'
(R):5'- CTCTCATTCGCATGGTAAAGAC -3'

Posted On

2014-05-23