Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Map4k1'

528814

Institutional Source

Beutler Lab

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

134.008

Status

Validated

Chromosome

Chromosomal Location

28982050-29003279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29002396 bp (GRCm38)

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: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Map4k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Map4k1	APN	7	29001619	missense	probably damaging	0.98
IGL01936:Map4k1	APN	7	28988607	missense	possibly damaging	0.90
IGL02473:Map4k1	APN	7	28999872	missense	probably damaging	1.00
IGL02934:Map4k1	APN	7	28994106	missense	probably benign	0.00
IGL03180:Map4k1	APN	7	28988085	missense	probably damaging	1.00
IGL03199:Map4k1	APN	7	28983417	missense	probably damaging	1.00
IGL03493:Map4k1	APN	7	28984151	unclassified	probably benign
R0333:Map4k1	UTSW	7	28999761	unclassified	probably benign
R1296:Map4k1	UTSW	7	28998452	missense	possibly damaging	0.96
R1305:Map4k1	UTSW	7	28995465	missense	probably benign
R1519:Map4k1	UTSW	7	28991036	missense	probably benign	0.00
R1711:Map4k1	UTSW	7	28989352	missense	possibly damaging	0.80
R1842:Map4k1	UTSW	7	28987163	missense	probably damaging	1.00
R1851:Map4k1	UTSW	7	28999784	missense	probably benign
R2042:Map4k1	UTSW	7	28984130	missense	probably damaging	1.00
R2274:Map4k1	UTSW	7	29001957	missense	probably damaging	1.00
R2275:Map4k1	UTSW	7	29001957	missense	probably damaging	1.00
R4426:Map4k1	UTSW	7	28988595	missense	probably damaging	1.00
R4568:Map4k1	UTSW	7	28986654	missense	probably damaging	1.00
R4858:Map4k1	UTSW	7	28988770	missense	probably damaging	1.00
R4903:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R4964:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R4966:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R5124:Map4k1	UTSW	7	28988832	missense	probably damaging	1.00
R5778:Map4k1	UTSW	7	28994221	missense	probably benign	0.37
R5786:Map4k1	UTSW	7	29000020	missense	probably damaging	1.00
R6343:Map4k1	UTSW	7	29000290	missense	possibly damaging	0.76
R6475:Map4k1	UTSW	7	28987022	missense	probably damaging	1.00
R6703:Map4k1	UTSW	7	29002396	missense	possibly damaging	0.86
R6856:Map4k1	UTSW	7	28986834	missense	probably damaging	1.00
R6870:Map4k1	UTSW	7	29001671	critical splice donor site	probably null
R6904:Map4k1	UTSW	7	28986802	missense	probably damaging	1.00
R7081:Map4k1	UTSW	7	28991149	missense	probably benign
R7572:Map4k1	UTSW	7	28987138	missense	probably benign	0.01
R7868:Map4k1	UTSW	7	28999962	critical splice acceptor site	probably null
R8034:Map4k1	UTSW	7	28988148	missense	probably damaging	1.00
R8054:Map4k1	UTSW	7	28989756	splice site	probably benign
R8512:Map4k1	UTSW	7	28996158	missense	possibly damaging	0.88
R8686:Map4k1	UTSW	7	28994073	missense	probably benign	0.04
R8723:Map4k1	UTSW	7	28987117	missense	probably damaging	0.99
R8743:Map4k1	UTSW	7	28987117	missense	probably damaging	0.99
R8745:Map4k1	UTSW	7	28987117	missense	probably damaging	0.99
R8885:Map4k1	UTSW	7	28989437	missense	probably benign	0.00
R8921:Map4k1	UTSW	7	29001627	missense	probably damaging	0.96
R9518:Map4k1	UTSW	7	28994071	missense	probably benign	0.00
Z1177:Map4k1	UTSW	7	29000008	missense	probably damaging	0.97

Predicted Primers

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

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

Posted On

2018-07-24