Mutagenetix > Incidental Mutations

Incidental Mutation 'R6343:Map4k1'

514002

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28982050-29003279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29000290 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 606 (V606A)

Ref Sequence

ENSEMBL: ENSMUSP00000146807 (fasta)

Gene Model

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

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: V652A

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: V652A

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

possibly damaging
Transcript: ENSMUST00000208227
AA Change: V606A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208784

Predicted Effect

probably benign
Transcript: ENSMUST00000214374

Meta Mutation Damage Score

0.3144

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,314,552	L301Q	probably damaging	Het
Adgrl4	T	C	3: 151,517,806	L632P	probably damaging	Het
Cacna2d1	T	A	5: 16,322,564	I539N	probably benign	Het
Camta1	T	A	4: 151,079,849	H314L	probably damaging	Het
Car2	T	C	3: 14,887,965	S56P	probably damaging	Het
Chrm5	G	A	2: 112,479,448	A441V	probably damaging	Het
Ckap5	T	A	2: 91,596,474	N1380K	possibly damaging	Het
Cspg4	T	C	9: 56,892,692	V1580A	probably benign	Het
Dcc	A	G	18: 71,336,035	L1099P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epha5	A	T	5: 84,106,747	H644Q	probably damaging	Het
Eya3	T	C	4: 132,672,910	I80T	probably damaging	Het
Fdft1	A	T	14: 63,151,272	Y304N	probably damaging	Het
Fiz1	C	T	7: 5,008,401	A373T	possibly damaging	Het
Gpatch2l	T	A	12: 86,260,605	Y252*	probably null	Het
Hivep1	G	T	13: 42,159,671	G1796*	probably null	Het
Irf8	T	C	8: 120,753,707	V228A	probably damaging	Het
Islr	A	C	9: 58,157,096	V376G	probably damaging	Het
Kdm5a	T	C	6: 120,382,933	V230A	probably benign	Het
Lpgat1	A	G	1: 191,776,572		probably null	Het
Lrp8	T	C	4: 107,869,156		probably null	Het
Lyzl4	A	C	9: 121,578,084	S127A	possibly damaging	Het
Mau2	T	A	8: 70,031,523	K138N	probably damaging	Het
Meikin	T	C	11: 54,370,766	L33P	probably damaging	Het
Mrpl28	T	C	17: 26,126,278	V224A	probably benign	Het
Ncdn	T	C	4: 126,747,171	D512G	possibly damaging	Het
Nlrp2	T	A	7: 5,300,926	Q200L	possibly damaging	Het
Nup98	T	C	7: 102,194,750	N89S	possibly damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	G	T	19: 12,919,582	H242Q	probably damaging	Het
Olfr304	T	A	7: 86,385,851	R270*	probably null	Het
Olfr551	A	G	7: 102,588,546	C66R	probably damaging	Het
Olfr770	A	T	10: 129,133,666	L34*	probably null	Het
Padi3	C	T	4: 140,803,508	V68I	possibly damaging	Het
Pign	A	T	1: 105,585,095	M621K	probably benign	Het
Pigv	C	T	4: 133,665,236	V208M	probably damaging	Het
Ripk4	A	G	16: 97,763,526		probably null	Het
Rsf1	A	G	7: 97,660,917	K285E	probably benign	Het
Serpina3k	G	C	12: 104,345,303	G380A	probably benign	Het
Sorbs1	A	G	19: 40,376,982		probably null	Het
Srrd	G	C	5: 112,340,000	A104G	probably benign	Het
Tbp	T	A	17: 15,501,089		probably null	Het
Tecrl	G	A	5: 83,294,600	H209Y	probably damaging	Het
Tmprss11c	A	G	5: 86,256,345	L157P	probably damaging	Het
Tmprss13	A	T	9: 45,343,200	T422S	possibly damaging	Het
Ttll5	A	G	12: 85,956,699	H1103R	probably benign	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Vldlr	A	G	19: 27,245,649	Y699C	probably damaging	Het
Vmn1r22	T	G	6: 57,900,578	N138T	possibly 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
R6475:Map4k1	UTSW	7	28987022	missense	probably damaging	1.00
R6702:Map4k1	UTSW	7	29002396	missense	possibly damaging	0.86
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

Predicted Primers

PCR Primer
(F):5'- AGGACCCTTGGAGAGATACTGG -3'
(R):5'- TGAGGGACGGGGCTTAAATATC -3'

Sequencing Primer
(F):5'- CTTGGAGAGATACTGGGGGATCC -3'
(R):5'- AAATGCCTCAGGATGGGA -3'

Posted On

2018-04-27