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

39940073-40065470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40053692 bp (GRCm39)

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] [ENSMUST00000195860] [ENSMUST00000195636]

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

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

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

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: 120,022,982 (GRCm39)	I39M	probably benign	Het
Acoxl	G	A	2: 127,820,724 (GRCm39)	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,552,899 (GRCm39)	R76L	probably damaging	Het
Afg2a	A	G	3: 37,505,951 (GRCm39)	I677V	possibly damaging	Het
Ank	T	C	15: 27,544,437 (GRCm39)	M66T	possibly damaging	Het
C6	C	T	15: 4,789,449 (GRCm39)	A298V	possibly damaging	Het
Clip4	A	T	17: 72,156,937 (GRCm39)	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 99,978,479 (GRCm39)	I165T	probably damaging	Het
Dennd1b	G	A	1: 138,990,678 (GRCm39)	R214H	probably damaging	Het
Eri2	G	A	7: 119,386,964 (GRCm39)	T185I	probably benign	Het
Fbxo33	A	G	12: 59,249,456 (GRCm39)	V476A	probably damaging	Het
Fer1l4	G	A	2: 155,861,840 (GRCm39)	R1826*	probably null	Het
Fyb1	A	T	15: 6,610,258 (GRCm39)	K277I	probably damaging	Het
Gli3	C	A	13: 15,818,884 (GRCm39)	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,553,029 (GRCm39)	I2554V	probably benign	Het
Maml2	A	T	9: 13,532,900 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,179,043 (GRCm39)	D125G	probably benign	Het
Nipbl	A	G	15: 8,396,157 (GRCm39)	S139P	probably damaging	Het
Obscn	A	G	11: 58,897,614 (GRCm39)	L6647P	unknown	Het
Ppara	C	A	15: 85,685,268 (GRCm39)	H406N	probably benign	Het
Psg27	T	A	7: 18,295,842 (GRCm39)	H201L	probably benign	Het
Qser1	A	T	2: 104,617,248 (GRCm39)	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,783,551 (GRCm39)		probably null	Het
Septin2	C	T	1: 93,426,864 (GRCm39)	H158Y	probably damaging	Het
Snx9	C	A	17: 5,942,172 (GRCm39)	Q100K	probably benign	Het
Thnsl2	G	A	6: 71,108,884 (GRCm39)	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,523,571 (GRCm39)	R125G	probably damaging	Het
Tmem62	T	G	2: 120,837,445 (GRCm39)		probably null	Het
Tnpo3	A	T	6: 29,578,460 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,680,439 (GRCm39)	D889V	probably damaging	Het
Tubgcp6	C	A	15: 88,988,211 (GRCm39)	V913L	probably benign	Het
Uox	A	T	3: 146,333,565 (GRCm39)	M255L	probably benign	Het

Other mutations in Map4k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Map4k4	APN	1	40,043,976 (GRCm39)	missense	probably damaging	0.99
IGL00516:Map4k4	APN	1	40,053,762 (GRCm39)	missense	probably damaging	1.00
IGL01545:Map4k4	APN	1	40,053,389 (GRCm39)	splice site	probably benign
IGL02092:Map4k4	APN	1	40,063,508 (GRCm39)	missense	probably damaging	1.00
IGL02092:Map4k4	APN	1	40,025,943 (GRCm39)	missense	probably benign	0.12
IGL02570:Map4k4	APN	1	40,019,739 (GRCm39)	missense	probably benign	0.06
IGL02626:Map4k4	APN	1	40,053,257 (GRCm39)	splice site	probably benign
IGL02993:Map4k4	APN	1	40,053,348 (GRCm39)	missense	probably damaging	0.98
IGL03178:Map4k4	APN	1	40,025,853 (GRCm39)	missense	possibly damaging	0.63
tank	UTSW	1	40,044,024 (GRCm39)	missense	possibly damaging	0.93
IGL02835:Map4k4	UTSW	1	40,049,760 (GRCm39)	missense	probably damaging	0.99
R0496:Map4k4	UTSW	1	40,045,982 (GRCm39)	missense	probably damaging	0.99
R0498:Map4k4	UTSW	1	40,029,338 (GRCm39)	missense	probably benign	0.22
R0588:Map4k4	UTSW	1	40,044,024 (GRCm39)	missense	possibly damaging	0.93
R0674:Map4k4	UTSW	1	40,042,975 (GRCm39)	missense	probably damaging	1.00
R1205:Map4k4	UTSW	1	40,043,004 (GRCm39)	missense	probably damaging	1.00
R1349:Map4k4	UTSW	1	40,060,319 (GRCm39)	missense	probably damaging	1.00
R1615:Map4k4	UTSW	1	40,045,990 (GRCm39)	splice site	probably benign
R1763:Map4k4	UTSW	1	40,039,917 (GRCm39)	splice site	probably benign
R1800:Map4k4	UTSW	1	40,062,620 (GRCm39)	missense	probably damaging	1.00
R1893:Map4k4	UTSW	1	40,040,717 (GRCm39)	missense	probably benign	0.08
R2411:Map4k4	UTSW	1	40,046,656 (GRCm39)	missense	probably damaging	0.96
R2851:Map4k4	UTSW	1	40,039,915 (GRCm39)	splice site	probably benign
R2852:Map4k4	UTSW	1	40,039,915 (GRCm39)	splice site	probably benign
R2987:Map4k4	UTSW	1	40,025,925 (GRCm39)	missense	probably damaging	1.00
R3087:Map4k4	UTSW	1	40,060,242 (GRCm39)	critical splice acceptor site	probably null
R3688:Map4k4	UTSW	1	40,024,331 (GRCm39)	splice site	probably null
R4075:Map4k4	UTSW	1	40,062,622 (GRCm39)	missense	probably damaging	0.96
R4304:Map4k4	UTSW	1	40,013,132 (GRCm39)	missense	possibly damaging	0.74
R4564:Map4k4	UTSW	1	40,028,135 (GRCm39)	missense	probably damaging	1.00
R4569:Map4k4	UTSW	1	40,039,698 (GRCm39)	missense	probably damaging	1.00
R4613:Map4k4	UTSW	1	40,056,351 (GRCm39)	missense	probably benign	0.05
R4715:Map4k4	UTSW	1	40,058,724 (GRCm39)	missense	probably damaging	1.00
R4788:Map4k4	UTSW	1	40,043,076 (GRCm39)	missense	probably benign	0.01
R4926:Map4k4	UTSW	1	40,056,385 (GRCm39)	missense	probably damaging	1.00
R4943:Map4k4	UTSW	1	40,058,754 (GRCm39)	missense	probably damaging	0.99
R5033:Map4k4	UTSW	1	40,046,662 (GRCm39)	missense	probably damaging	0.99
R5177:Map4k4	UTSW	1	40,025,922 (GRCm39)	missense	probably damaging	1.00
R5297:Map4k4	UTSW	1	40,001,377 (GRCm39)	missense	probably damaging	1.00
R5844:Map4k4	UTSW	1	40,039,036 (GRCm39)	splice site	probably benign
R5952:Map4k4	UTSW	1	40,039,082 (GRCm39)	unclassified	probably benign
R6111:Map4k4	UTSW	1	40,050,822 (GRCm39)	missense	probably benign	0.00
R6125:Map4k4	UTSW	1	40,043,125 (GRCm39)	missense	possibly damaging	0.77
R6838:Map4k4	UTSW	1	40,015,882 (GRCm39)	missense	probably damaging	1.00
R6927:Map4k4	UTSW	1	40,050,842 (GRCm39)	missense	probably benign	0.00
R7008:Map4k4	UTSW	1	40,028,131 (GRCm39)	missense	probably benign	0.44
R7164:Map4k4	UTSW	1	40,013,132 (GRCm39)	missense	possibly damaging	0.74
R7195:Map4k4	UTSW	1	40,058,829 (GRCm39)	missense	possibly damaging	0.93
R7352:Map4k4	UTSW	1	40,001,387 (GRCm39)	missense	unknown
R7589:Map4k4	UTSW	1	40,060,251 (GRCm39)	nonsense	probably null
R7816:Map4k4	UTSW	1	40,053,368 (GRCm39)	missense	possibly damaging	0.53
R7869:Map4k4	UTSW	1	40,013,204 (GRCm39)	missense	unknown
R8013:Map4k4	UTSW	1	40,001,372 (GRCm39)	missense	unknown
R8145:Map4k4	UTSW	1	40,039,694 (GRCm39)	missense
R8154:Map4k4	UTSW	1	40,060,302 (GRCm39)	nonsense	probably null
R8254:Map4k4	UTSW	1	40,045,835 (GRCm39)	missense	probably damaging	0.99
R8266:Map4k4	UTSW	1	40,050,813 (GRCm39)	missense	possibly damaging	0.53
R8375:Map4k4	UTSW	1	40,063,801 (GRCm39)	missense	possibly damaging	0.73
R8487:Map4k4	UTSW	1	40,028,136 (GRCm39)	missense	probably damaging	1.00
R8699:Map4k4	UTSW	1	40,015,910 (GRCm39)	missense	unknown
R8726:Map4k4	UTSW	1	40,043,142 (GRCm39)	missense	possibly damaging	0.95
R8907:Map4k4	UTSW	1	40,058,770 (GRCm39)	missense	probably damaging	0.97
R8956:Map4k4	UTSW	1	40,039,840 (GRCm39)	missense	probably benign	0.11
R8963:Map4k4	UTSW	1	40,039,740 (GRCm39)	missense	probably damaging	1.00
R9091:Map4k4	UTSW	1	40,042,923 (GRCm39)	missense	probably benign	0.02
R9234:Map4k4	UTSW	1	40,029,261 (GRCm39)	missense	unknown
R9270:Map4k4	UTSW	1	40,042,923 (GRCm39)	missense	probably benign	0.02
R9438:Map4k4	UTSW	1	40,045,952 (GRCm39)	missense	probably damaging	0.99
R9689:Map4k4	UTSW	1	40,058,722 (GRCm39)	missense	possibly damaging	0.95
R9771:Map4k4	UTSW	1	40,025,877 (GRCm39)	missense	unknown

Posted On

2012-04-20