Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Map4k4'

7499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map4k4

Ensembl Gene

ENSMUSG00000026074

Gene Name

mitogen-activated protein kinase kinase kinase kinase 4

Synonyms

9430080K19Rik, Nik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

39900913-40026310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40014532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 930 (F930L)

Ref Sequence

ENSEMBL: ENSMUSP00000126961 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163854
AA Change: F930L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126961
Gene: ENSMUSG00000026074
AA Change: F930L

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

unknown
Transcript: ENSMUST00000168431
AA Change: F880L

SMART Domains

Protein: ENSMUSP00000129796
Gene: ENSMUSG00000026074
AA Change: F880L

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

unknown
Transcript: ENSMUST00000192509
AA Change: F876L

SMART Domains

Protein: ENSMUSP00000141665
Gene: ENSMUSG00000026074
AA Change: F876L

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

noncoding transcript
Transcript: ENSMUST00000192884

Predicted Effect

probably benign
Transcript: ENSMUST00000193682
AA Change: F863L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141862
Gene: ENSMUSG00000026074
AA Change: F863L

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

unknown
Transcript: ENSMUST00000195259
AA Change: F850L

SMART Domains

Protein: ENSMUSP00000142056
Gene: ENSMUSG00000026074
AA Change: F850L

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

unknown
Transcript: ENSMUST00000195636
AA Change: F914L

SMART Domains

Protein: ENSMUSP00000141613
Gene: ENSMUSG00000026074
AA Change: F914L

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
AA Change: F930L

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141400
Gene: ENSMUSG00000026074
AA Change: F930L

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

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. 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759 (GRCm38)	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804 (GRCm38)	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637 (GRCm38)	R76L	probably damaging	Het
Ank	T	C	15: 27,544,351 (GRCm38)	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967 (GRCm38)	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942 (GRCm38)	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 100,050,754 (GRCm38)	I165T	probably damaging	Het
Dennd1b	G	A	1: 139,062,940 (GRCm38)	R214H	probably damaging	Het
Eri2	G	A	7: 119,787,741 (GRCm38)	T185I	probably benign	Het
Fbxo33	A	G	12: 59,202,670 (GRCm38)	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920 (GRCm38)	R1826*	probably null	Het
Fyb	A	T	15: 6,580,777 (GRCm38)	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299 (GRCm38)	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278 (GRCm38)	I2554V	probably benign	Het
Maml2	A	T	9: 13,621,604 (GRCm38)		probably benign	Het
Mmadhc	T	C	2: 50,289,031 (GRCm38)	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673 (GRCm38)	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788 (GRCm38)	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067 (GRCm38)	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917 (GRCm38)	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903 (GRCm38)	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981 (GRCm38)		probably null	Het
Sept2	C	T	1: 93,499,142 (GRCm38)	H158Y	probably damaging	Het
Snx9	C	A	17: 5,891,897 (GRCm38)	Q100K	probably benign	Het
Spata5	A	G	3: 37,451,802 (GRCm38)	I677V	possibly damaging	Het
Thnsl2	G	A	6: 71,131,900 (GRCm38)	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834 (GRCm38)	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964 (GRCm38)		probably null	Het
Tnpo3	A	T	6: 29,578,461 (GRCm38)		probably null	Het
Trpc6	A	T	9: 8,680,438 (GRCm38)	D889V	probably damaging	Het
Tubgcp6	C	A	15: 89,104,008 (GRCm38)	V913L	probably benign	Het
Uox	A	T	3: 146,627,810 (GRCm38)	M255L	probably benign	Het

Other mutations in Map4k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Map4k4	APN	1	40,004,816 (GRCm38)	missense	probably damaging	0.99
IGL00516:Map4k4	APN	1	40,014,602 (GRCm38)	missense	probably damaging	1.00
IGL01545:Map4k4	APN	1	40,014,229 (GRCm38)	splice site	probably benign
IGL02092:Map4k4	APN	1	40,024,348 (GRCm38)	missense	probably damaging	1.00
IGL02092:Map4k4	APN	1	39,986,783 (GRCm38)	missense	probably benign	0.12
IGL02570:Map4k4	APN	1	39,980,579 (GRCm38)	missense	probably benign	0.06
IGL02626:Map4k4	APN	1	40,014,097 (GRCm38)	splice site	probably benign
IGL02993:Map4k4	APN	1	40,014,188 (GRCm38)	missense	probably damaging	0.98
IGL03178:Map4k4	APN	1	39,986,693 (GRCm38)	missense	possibly damaging	0.63
tank	UTSW	1	40,004,864 (GRCm38)	missense	possibly damaging	0.93
IGL02835:Map4k4	UTSW	1	40,010,600 (GRCm38)	missense	probably damaging	0.99
R0496:Map4k4	UTSW	1	40,006,822 (GRCm38)	missense	probably damaging	0.99
R0498:Map4k4	UTSW	1	39,990,178 (GRCm38)	missense	probably benign	0.22
R0588:Map4k4	UTSW	1	40,004,864 (GRCm38)	missense	possibly damaging	0.93
R0674:Map4k4	UTSW	1	40,003,815 (GRCm38)	missense	probably damaging	1.00
R1205:Map4k4	UTSW	1	40,003,844 (GRCm38)	missense	probably damaging	1.00
R1349:Map4k4	UTSW	1	40,021,159 (GRCm38)	missense	probably damaging	1.00
R1615:Map4k4	UTSW	1	40,006,830 (GRCm38)	splice site	probably benign
R1763:Map4k4	UTSW	1	40,000,757 (GRCm38)	splice site	probably benign
R1800:Map4k4	UTSW	1	40,023,460 (GRCm38)	missense	probably damaging	1.00
R1893:Map4k4	UTSW	1	40,001,557 (GRCm38)	missense	probably benign	0.08
R2411:Map4k4	UTSW	1	40,007,496 (GRCm38)	missense	probably damaging	0.96
R2851:Map4k4	UTSW	1	40,000,755 (GRCm38)	splice site	probably benign
R2852:Map4k4	UTSW	1	40,000,755 (GRCm38)	splice site	probably benign
R2987:Map4k4	UTSW	1	39,986,765 (GRCm38)	missense	probably damaging	1.00
R3087:Map4k4	UTSW	1	40,021,082 (GRCm38)	critical splice acceptor site	probably null
R3688:Map4k4	UTSW	1	39,985,171 (GRCm38)	splice site	probably null
R4075:Map4k4	UTSW	1	40,023,462 (GRCm38)	missense	probably damaging	0.96
R4304:Map4k4	UTSW	1	39,973,972 (GRCm38)	missense	possibly damaging	0.74
R4564:Map4k4	UTSW	1	39,988,975 (GRCm38)	missense	probably damaging	1.00
R4569:Map4k4	UTSW	1	40,000,538 (GRCm38)	missense	probably damaging	1.00
R4613:Map4k4	UTSW	1	40,017,191 (GRCm38)	missense	probably benign	0.05
R4715:Map4k4	UTSW	1	40,019,564 (GRCm38)	missense	probably damaging	1.00
R4788:Map4k4	UTSW	1	40,003,916 (GRCm38)	missense	probably benign	0.01
R4926:Map4k4	UTSW	1	40,017,225 (GRCm38)	missense	probably damaging	1.00
R4943:Map4k4	UTSW	1	40,019,594 (GRCm38)	missense	probably damaging	0.99
R5033:Map4k4	UTSW	1	40,007,502 (GRCm38)	missense	probably damaging	0.99
R5177:Map4k4	UTSW	1	39,986,762 (GRCm38)	missense	probably damaging	1.00
R5297:Map4k4	UTSW	1	39,962,217 (GRCm38)	missense	probably damaging	1.00
R5844:Map4k4	UTSW	1	39,999,876 (GRCm38)	splice site	probably benign
R5952:Map4k4	UTSW	1	39,999,922 (GRCm38)	unclassified	probably benign
R6111:Map4k4	UTSW	1	40,011,662 (GRCm38)	missense	probably benign	0.00
R6125:Map4k4	UTSW	1	40,003,965 (GRCm38)	missense	possibly damaging	0.77
R6838:Map4k4	UTSW	1	39,976,722 (GRCm38)	missense	probably damaging	1.00
R6927:Map4k4	UTSW	1	40,011,682 (GRCm38)	missense	probably benign	0.00
R7008:Map4k4	UTSW	1	39,988,971 (GRCm38)	missense	probably benign	0.44
R7164:Map4k4	UTSW	1	39,973,972 (GRCm38)	missense	possibly damaging	0.74
R7195:Map4k4	UTSW	1	40,019,669 (GRCm38)	missense	possibly damaging	0.93
R7352:Map4k4	UTSW	1	39,962,227 (GRCm38)	missense	unknown
R7589:Map4k4	UTSW	1	40,021,091 (GRCm38)	nonsense	probably null
R7816:Map4k4	UTSW	1	40,014,208 (GRCm38)	missense	possibly damaging	0.53
R7869:Map4k4	UTSW	1	39,974,044 (GRCm38)	missense	unknown
R8013:Map4k4	UTSW	1	39,962,212 (GRCm38)	missense	unknown
R8145:Map4k4	UTSW	1	40,000,534 (GRCm38)	missense
R8154:Map4k4	UTSW	1	40,021,142 (GRCm38)	nonsense	probably null
R8254:Map4k4	UTSW	1	40,006,675 (GRCm38)	missense	probably damaging	0.99
R8266:Map4k4	UTSW	1	40,011,653 (GRCm38)	missense	possibly damaging	0.53
R8375:Map4k4	UTSW	1	40,024,641 (GRCm38)	missense	possibly damaging	0.73
R8487:Map4k4	UTSW	1	39,988,976 (GRCm38)	missense	probably damaging	1.00
R8699:Map4k4	UTSW	1	39,976,750 (GRCm38)	missense	unknown
R8726:Map4k4	UTSW	1	40,003,982 (GRCm38)	missense	possibly damaging	0.95
R8907:Map4k4	UTSW	1	40,019,610 (GRCm38)	missense	probably damaging	0.97
R8956:Map4k4	UTSW	1	40,000,680 (GRCm38)	missense	probably benign	0.11
R8963:Map4k4	UTSW	1	40,000,580 (GRCm38)	missense	probably damaging	1.00
R9091:Map4k4	UTSW	1	40,003,763 (GRCm38)	missense	probably benign	0.02
R9234:Map4k4	UTSW	1	39,990,101 (GRCm38)	missense	unknown
R9270:Map4k4	UTSW	1	40,003,763 (GRCm38)	missense	probably benign	0.02
R9438:Map4k4	UTSW	1	40,006,792 (GRCm38)	missense	probably damaging	0.99
R9689:Map4k4	UTSW	1	40,019,562 (GRCm38)	missense	possibly damaging	0.95
R9771:Map4k4	UTSW	1	39,986,717 (GRCm38)	missense	unknown

Posted On

2012-04-20