Mutagenetix > Incidental Mutation

Incidental Mutation 'R6703:Map4k1'

528284

Institutional Source

Beutler Lab

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

MMRRC Submission

044821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6703 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

28681475-28702704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28701821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 803 (S803A)

Ref Sequence

ENSEMBL: ENSMUSP00000082995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032813] [ENSMUST00000085835] [ENSMUST00000179893] [ENSMUST00000207185] [ENSMUST00000208227] [ENSMUST00000214374]

AlphaFold

P70218

PDB Structure

MONA/GADS SH3C IN COMPLEX WITH HPK DERIVED PEPTIDE [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000032813

SMART Domains

Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
MIR	99	154	7.52e-4	SMART
MIR	161	206	1.11e-6	SMART
MIR	212	266	1.23e-8	SMART
MIR	272	362	1.05e-25	SMART
Pfam:RYDR_ITPR	441	645	1.2e-73	PFAM
SPRY	660	798	2.79e-27	SMART
Pfam:RyR	851	945	6.5e-33	PFAM
Pfam:RyR	965	1059	1.5e-30	PFAM
SPRY	1086	1209	8.62e-42	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1340	1349	N/A	INTRINSIC
SPRY	1431	1571	3.05e-33	SMART
low complexity region	1787	1798	N/A	INTRINSIC
coiled coil region	1871	1932	N/A	INTRINSIC
low complexity region	1989	1998	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2069	2092	N/A	INTRINSIC
Pfam:RYDR_ITPR	2158	2366	7e-66	PFAM
low complexity region	2390	2404	N/A	INTRINSIC
Pfam:RyR	2735	2829	9.7e-34	PFAM
Pfam:RyR	2855	2943	5.7e-32	PFAM
low complexity region	3130	3144	N/A	INTRINSIC
low complexity region	3290	3304	N/A	INTRINSIC
low complexity region	3375	3394	N/A	INTRINSIC
PDB:2BCX\|B	3613	3642	2e-13	PDB
low complexity region	3681	3691	N/A	INTRINSIC
low complexity region	3735	3760	N/A	INTRINSIC
Pfam:RIH_assoc	3872	4004	1.9e-41	PFAM
low complexity region	4010	4023	N/A	INTRINSIC
Pfam:EF-hand_8	4085	4136	9.8e-8	PFAM
transmembrane domain	4283	4305	N/A	INTRINSIC
transmembrane domain	4318	4336	N/A	INTRINSIC
transmembrane domain	4341	4363	N/A	INTRINSIC
Pfam:RR_TM4-6	4377	4666	2e-86	PFAM
Pfam:Ion_trans	4761	4932	3.4e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085835
AA Change: S803A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: S803A

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 benign
Transcript: ENSMUST00000179893

SMART Domains

Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
MIR	99	154	7.52e-4	SMART
MIR	161	206	1.11e-6	SMART
MIR	212	266	1.23e-8	SMART
MIR	272	362	1.05e-25	SMART
Pfam:RYDR_ITPR	443	638	4.5e-63	PFAM
SPRY	660	798	2.79e-27	SMART
Pfam:RyR	852	942	1.3e-37	PFAM
Pfam:RyR	966	1056	1.6e-28	PFAM
SPRY	1086	1209	8.62e-42	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1340	1349	N/A	INTRINSIC
SPRY	1431	1571	3.05e-33	SMART
low complexity region	1787	1798	N/A	INTRINSIC
coiled coil region	1871	1932	N/A	INTRINSIC
low complexity region	1989	1998	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2069	2092	N/A	INTRINSIC
Pfam:RYDR_ITPR	2160	2366	2.2e-68	PFAM
low complexity region	2390	2404	N/A	INTRINSIC
Pfam:RyR	2736	2826	7.2e-31	PFAM
Pfam:RyR	2856	2940	5.6e-27	PFAM
low complexity region	3130	3144	N/A	INTRINSIC
low complexity region	3290	3304	N/A	INTRINSIC
low complexity region	3375	3394	N/A	INTRINSIC
PDB:2BCX\|B	3615	3644	2e-13	PDB
low complexity region	3683	3693	N/A	INTRINSIC
low complexity region	3737	3762	N/A	INTRINSIC
Pfam:RIH_assoc	3878	3996	6.2e-35	PFAM
low complexity region	4012	4025	N/A	INTRINSIC
Pfam:EF-hand_8	4087	4137	1.8e-8	PFAM
transmembrane domain	4285	4307	N/A	INTRINSIC
transmembrane domain	4320	4338	N/A	INTRINSIC
transmembrane domain	4343	4365	N/A	INTRINSIC
Pfam:RR_TM4-6	4379	4668	8.4e-76	PFAM
Pfam:Ion_trans	4763	4946	2.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207185

Predicted Effect

probably benign
Transcript: ENSMUST00000208227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208784

Predicted Effect

probably benign
Transcript: ENSMUST00000214374

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Akap13	T	C	7: 75,252,646 (GRCm39)	S259P	probably damaging	Het
Aoc1	A	C	6: 48,882,648 (GRCm39)	T197P	probably damaging	Het
Blnk	A	T	19: 40,950,950 (GRCm39)		probably null	Het
Ccser1	A	T	6: 61,615,495 (GRCm39)	K94*	probably null	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Clec4n	A	G	6: 123,212,553 (GRCm39)	Q89R	probably null	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Dock7	T	C	4: 98,834,909 (GRCm39)	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,690,849 (GRCm39)		probably null	Het
Dyrk4	A	T	6: 126,867,045 (GRCm39)	I329N	probably damaging	Het
E4f1	C	A	17: 24,666,105 (GRCm39)	R231L	probably damaging	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Fkbp7	A	T	2: 76,502,106 (GRCm39)	M99K	probably damaging	Het
Flad1	T	C	3: 89,315,897 (GRCm39)	S222G	probably benign	Het
H1f7	C	A	15: 98,155,153 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,268,653 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itln1	C	T	1: 171,358,151 (GRCm39)	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,728,726 (GRCm39)	R137C	probably damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp7	C	T	3: 127,337,873 (GRCm39)	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,640,185 (GRCm39)	A5V	probably benign	Het
Lrrc43	C	T	5: 123,637,532 (GRCm39)	T233M	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,572,033 (GRCm39)		probably null	Het
Mug2	T	G	6: 122,055,653 (GRCm39)	I1112R	probably benign	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,284,205 (GRCm39)	S160P	probably damaging	Het
Nudt16l2	T	C	9: 105,021,758 (GRCm39)	Y96C	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or2m13	T	C	16: 19,226,122 (GRCm39)	I215V	probably benign	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,335,734 (GRCm39)	V683M	possibly damaging	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pif1	T	C	9: 65,500,545 (GRCm39)	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,309,250 (GRCm39)	Y219N	probably benign	Het
Ppl	T	G	16: 4,907,328 (GRCm39)	E989A	probably damaging	Het
Prkdc	T	G	16: 15,488,392 (GRCm39)	S505A	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Ptges	A	G	2: 30,793,133 (GRCm39)	V33A	possibly damaging	Het
Qser1	G	A	2: 104,607,670 (GRCm39)	T1416I	possibly damaging	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Rtn3	A	T	19: 7,412,410 (GRCm39)	V788D	probably damaging	Het
Rtn4r	T	C	16: 17,969,055 (GRCm39)	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,156,354 (GRCm39)	R262Q	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,029,203 (GRCm39)	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,742,911 (GRCm39)	N533S	probably benign	Het
Slc39a5	T	A	10: 128,233,651 (GRCm39)	D282V	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx14	A	G	9: 88,304,967 (GRCm39)	I109T	probably damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
Sox5	G	T	6: 143,779,191 (GRCm39)	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,799,842 (GRCm39)	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,799,843 (GRCm39)	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Tmub1	T	C	5: 24,651,944 (GRCm39)	S7G	probably benign	Het
Trarg1	A	T	11: 76,584,988 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044 (GRCm39)	S305P	probably benign	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly 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
IGL03180:Map4k1	APN	7	28,687,510 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCACAGTTGCCTATCCG -3'
(R):5'- CAGGGGCTTCTGCTGAGG -3'

Sequencing Primer
(F):5'- TCTTGGACACAGAGCAGTTAAGTC -3'
(R):5'- CTGAGGGCAGCCAAGGC -3'

Posted On

2018-07-24