Mutagenetix > Incidental Mutations

Incidental Mutation 'R1842:Map4k1'

205816

Institutional Source

Beutler Lab

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

MMRRC Submission

039867-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28982050-29003279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28987163 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 170 (L170P)

Ref Sequence

ENSEMBL: ENSMUSP00000147189 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085835
AA Change: L170P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: L170P

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: L170P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208227
AA Change: L124P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,506	Y82C	probably damaging	Het
Abca6	G	T	11: 110,197,039	N1087K	probably benign	Het
Abcc3	G	A	11: 94,359,612	T921I	probably benign	Het
Abr	T	A	11: 76,508,986	I4F	probably damaging	Het
Adcy10	T	A	1: 165,503,243	V25D	probably damaging	Het
Ahnak	T	A	19: 9,005,867	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,796,249		noncoding transcript	Het
Apob	C	G	12: 8,011,559	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,339,996	G11W	probably damaging	Het
Armc4	A	T	18: 7,223,551	D497E	probably benign	Het
Ccdc110	A	T	8: 45,940,568	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,621,013	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,331,127	E566G	probably benign	Het
Cenpm	T	C	15: 82,239,364	S111G	probably benign	Het
Cep55	A	G	19: 38,057,900	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,107,602	L190S	probably damaging	Het
Dhh	T	C	15: 98,894,560		probably null	Het
Dst	A	G	1: 34,164,119	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,139,570	L164F	unknown	Het
Efcab5	A	G	11: 77,134,875	V538A	probably benign	Het
Egflam	A	G	15: 7,303,941	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,725,930	C31S	probably damaging	Het
Eif2d	C	A	1: 131,171,060	Q532K	probably damaging	Het
Elf3	T	C	1: 135,256,793	D175G	possibly damaging	Het
F5	T	C	1: 164,184,560	V449A	probably damaging	Het
Fam110a	A	T	2: 151,970,034	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,531,007	D608G	probably damaging	Het
Flrt2	T	C	12: 95,779,284	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,531,080	V74D	possibly damaging	Het
Gad1	G	T	2: 70,574,253	E162D	probably benign	Het
Glb1l	A	G	1: 75,200,460	V444A	probably damaging	Het
Gm10770	G	A	2: 150,179,156	T147I	probably damaging	Het
Gm43302	T	C	5: 105,277,736	I276V	probably benign	Het
Greb1	T	C	12: 16,696,243	H1314R	probably damaging	Het
Hapln2	A	G	3: 88,024,001	V69A	probably damaging	Het
Hcn1	T	C	13: 117,976,008	I836T	probably damaging	Het
Hspa5	A	G	2: 34,775,803	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,760,883	I194N	probably damaging	Het
Kansl3	A	G	1: 36,351,744	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798	S716L	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrp1	A	G	10: 127,573,468	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,011,115	D15G	probably benign	Het
Mast3	A	G	8: 70,780,393	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,885,342	L6I	unknown	Het
Mfsd14a	A	T	3: 116,632,408	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,337,720	I642V	probably damaging	Het
Necap1	A	G	6: 122,874,588	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,246,445	E723K	probably damaging	Het
Nsun3	A	T	16: 62,776,392	L121H	probably damaging	Het
Nsun6	A	T	2: 15,009,477	M284K	probably damaging	Het
Nutf2	T	C	8: 105,876,610		probably null	Het
Olfr1166	A	T	2: 88,124,127	M286K	probably damaging	Het
Olfr352	A	T	2: 36,869,589	N8Y	probably damaging	Het
Pacs1	T	C	19: 5,155,884	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381		probably benign	Het
Rab38	G	A	7: 88,450,522	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,799,797	E206V	probably damaging	Het
Scube3	G	A	17: 28,165,089	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,716,208	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,805,993	S152P	possibly damaging	Het
Slit1	A	T	19: 41,721,038		probably null	Het
Spta1	A	G	1: 174,195,947	K640R	probably benign	Het
Svil	A	G	18: 5,062,373	T898A	probably damaging	Het
Tex45	T	A	8: 3,483,668	F295L	possibly damaging	Het
Timm44	A	G	8: 4,260,510		probably null	Het
Tomm40	A	G	7: 19,713,725	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,729,690	V493D	possibly damaging	Het
Yeats2	T	C	16: 20,171,238	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,401,498	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,875,553	K341Q	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
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
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
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
Z1177:Map4k1	UTSW	7	29000008	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGGTCTCTGTCAGCCTCTA -3'
(R):5'- TCCTAAACACTAAGAGAAAGGGCC -3'

Sequencing Primer
(F):5'- TCTCCAGGGAGCCAACATC -3'
(R):5'- GCCAGAAAGAGACCTAGATAAGTG -3'

Posted On

2014-06-23