Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Map4k1'

412201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

28681475-28702704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28687510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 136 (E136A)

Ref Sequence

ENSEMBL: ENSMUSP00000146807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000208227]

AlphaFold

P70218

Predicted Effect

probably damaging
Transcript: ENSMUST00000085835
AA Change: E182A

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

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: E182A

Domain	Start	End	E-Value	Type
S_TKc	17	274	3.58e-84	SMART
low complexity region	301	318	N/A	INTRINSIC
low complexity region	373	383	N/A	INTRINSIC
low complexity region	385	416	N/A	INTRINSIC
low complexity region	426	446	N/A	INTRINSIC
CNH	506	813	4.93e-106	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207185
AA Change: E182A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208227
AA Change: E136A

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice have increased responses of B and T cells. Dendritic cells are also hyperresponsive to stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	Het

Other mutations in Map4k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Map4k1	APN	7	28,701,044 (GRCm39)	missense	probably damaging	0.98
IGL01936:Map4k1	APN	7	28,688,032 (GRCm39)	missense	possibly damaging	0.90
IGL02473:Map4k1	APN	7	28,699,297 (GRCm39)	missense	probably damaging	1.00
IGL02934:Map4k1	APN	7	28,693,531 (GRCm39)	missense	probably benign	0.00
IGL03199:Map4k1	APN	7	28,682,842 (GRCm39)	missense	probably damaging	1.00
IGL03493:Map4k1	APN	7	28,683,576 (GRCm39)	unclassified	probably benign
R0333:Map4k1	UTSW	7	28,699,186 (GRCm39)	unclassified	probably benign
R1296:Map4k1	UTSW	7	28,697,877 (GRCm39)	missense	possibly damaging	0.96
R1305:Map4k1	UTSW	7	28,694,890 (GRCm39)	missense	probably benign
R1519:Map4k1	UTSW	7	28,690,461 (GRCm39)	missense	probably benign	0.00
R1711:Map4k1	UTSW	7	28,688,777 (GRCm39)	missense	possibly damaging	0.80
R1842:Map4k1	UTSW	7	28,686,588 (GRCm39)	missense	probably damaging	1.00
R1851:Map4k1	UTSW	7	28,699,209 (GRCm39)	missense	probably benign
R2042:Map4k1	UTSW	7	28,683,555 (GRCm39)	missense	probably damaging	1.00
R2274:Map4k1	UTSW	7	28,701,382 (GRCm39)	missense	probably damaging	1.00
R2275:Map4k1	UTSW	7	28,701,382 (GRCm39)	missense	probably damaging	1.00
R4426:Map4k1	UTSW	7	28,688,020 (GRCm39)	missense	probably damaging	1.00
R4568:Map4k1	UTSW	7	28,686,079 (GRCm39)	missense	probably damaging	1.00
R4858:Map4k1	UTSW	7	28,688,195 (GRCm39)	missense	probably damaging	1.00
R4903:Map4k1	UTSW	7	28,682,427 (GRCm39)	missense	probably benign	0.01
R4964:Map4k1	UTSW	7	28,682,427 (GRCm39)	missense	probably benign	0.01
R4966:Map4k1	UTSW	7	28,682,427 (GRCm39)	missense	probably benign	0.01
R5124:Map4k1	UTSW	7	28,688,257 (GRCm39)	missense	probably damaging	1.00
R5778:Map4k1	UTSW	7	28,693,646 (GRCm39)	missense	probably benign	0.37
R5786:Map4k1	UTSW	7	28,699,445 (GRCm39)	missense	probably damaging	1.00
R6343:Map4k1	UTSW	7	28,699,715 (GRCm39)	missense	possibly damaging	0.76
R6475:Map4k1	UTSW	7	28,686,447 (GRCm39)	missense	probably damaging	1.00
R6702:Map4k1	UTSW	7	28,701,821 (GRCm39)	missense	possibly damaging	0.86
R6703:Map4k1	UTSW	7	28,701,821 (GRCm39)	missense	possibly damaging	0.86
R6856:Map4k1	UTSW	7	28,686,259 (GRCm39)	missense	probably damaging	1.00
R6870:Map4k1	UTSW	7	28,701,096 (GRCm39)	critical splice donor site	probably null
R6904:Map4k1	UTSW	7	28,686,227 (GRCm39)	missense	probably damaging	1.00
R7081:Map4k1	UTSW	7	28,690,574 (GRCm39)	missense	probably benign
R7572:Map4k1	UTSW	7	28,686,563 (GRCm39)	missense	probably benign	0.01
R7868:Map4k1	UTSW	7	28,699,387 (GRCm39)	critical splice acceptor site	probably null
R8034:Map4k1	UTSW	7	28,687,573 (GRCm39)	missense	probably damaging	1.00
R8054:Map4k1	UTSW	7	28,689,181 (GRCm39)	splice site	probably benign
R8512:Map4k1	UTSW	7	28,695,583 (GRCm39)	missense	possibly damaging	0.88
R8686:Map4k1	UTSW	7	28,693,498 (GRCm39)	missense	probably benign	0.04
R8723:Map4k1	UTSW	7	28,686,542 (GRCm39)	missense	probably damaging	0.99
R8743:Map4k1	UTSW	7	28,686,542 (GRCm39)	missense	probably damaging	0.99
R8745:Map4k1	UTSW	7	28,686,542 (GRCm39)	missense	probably damaging	0.99
R8885:Map4k1	UTSW	7	28,688,862 (GRCm39)	missense	probably benign	0.00
R8921:Map4k1	UTSW	7	28,701,052 (GRCm39)	missense	probably damaging	0.96
R9518:Map4k1	UTSW	7	28,693,496 (GRCm39)	missense	probably benign	0.00
Z1177:Map4k1	UTSW	7	28,699,433 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02