Mutagenetix > Incidental Mutations

Incidental Mutation 'R2042:Map4k1'

225066

Institutional Source

Beutler Lab

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

MMRRC Submission

040049-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28982050-29003279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28984130 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 53 (L53P)

Ref Sequence

ENSEMBL: ENSMUSP00000146807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000207683] [ENSMUST00000208227] [ENSMUST00000208616] [ENSMUST00000208707]

Predicted Effect

probably benign
Transcript: ENSMUST00000066070

SMART Domains

Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565

Domain	Start	End	E-Value	Type
Pfam:CSN8_PSD8_EIF3K	61	200	1.2e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085835
AA Change: L99P

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

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: L99P

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: L99P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207762

Predicted Effect

probably damaging
Transcript: ENSMUST00000208227
AA Change: L53P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208616

Predicted Effect

probably benign
Transcript: ENSMUST00000208707

Meta Mutation Damage Score

0.9200

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,416,728		probably benign	Het
9130019O22Rik	A	T	7: 127,385,469	C154S	possibly damaging	Het
Abca16	G	A	7: 120,544,718	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,785,819	Y176F	probably damaging	Het
Ano6	T	C	15: 95,956,023		probably null	Het
Atr	T	C	9: 95,870,022	L564S	probably benign	Het
Birc6	C	G	17: 74,609,659	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,704,308	A148T	probably damaging	Het
Cd53	T	A	3: 106,767,424		probably null	Het
Celsr2	A	G	3: 108,402,495	F1596S	probably damaging	Het
Cep120	A	T	18: 53,735,742	F122I	possibly damaging	Het
Ckm	A	T	7: 19,414,157	H7L	possibly damaging	Het
Crybg2	T	C	4: 134,087,533	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,112,538	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,666,108	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,215,849	S570T	probably damaging	Het
Dmbt1	A	G	7: 131,106,359	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,635,658	V98A	probably benign	Het
Dtx1	T	G	5: 120,694,476	N299T	probably benign	Het
Efr3b	T	A	12: 3,984,627	D65V	probably damaging	Het
Eml4	T	C	17: 83,448,178	C323R	probably damaging	Het
Eps15	C	T	4: 109,304,767	T31I	probably damaging	Het
Fam160a2	G	T	7: 105,384,121	Y629*	probably null	Het
Fam205c	C	T	4: 42,874,030	C46Y	possibly damaging	Het
Fam46b	T	C	4: 133,486,613	V265A	possibly damaging	Het
Fam91a1	A	G	15: 58,426,594	I184V	probably benign	Het
Fbxl8	A	T	8: 105,268,224	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,732,704	T141P	probably damaging	Het
Glra3	G	A	8: 56,062,459	D190N	probably benign	Het
Hspg2	T	C	4: 137,568,366	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Irs2	A	G	8: 11,007,580	I284T	probably damaging	Het
Klhl22	T	C	16: 17,792,420		probably benign	Het
Lmcd1	T	A	6: 112,315,890	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,363,442	K173R	probably benign	Het
Magi1	A	T	6: 93,755,045	N209K	probably benign	Het
Mak	A	C	13: 41,049,436	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,277,983	R87L	probably damaging	Het
Melk	T	C	4: 44,309,051		probably null	Het
Mks1	C	T	11: 87,856,668		probably benign	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
N4bp2	C	T	5: 65,826,621	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,226,640	Q132H	probably benign	Het
Nemp1	T	C	10: 127,696,334	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,436,194	H92R	probably benign	Het
Olfr1180	G	A	2: 88,412,202	A152V	possibly damaging	Het
Olfr527	T	C	7: 140,335,937	L25P	probably damaging	Het
P4ha3	T	C	7: 100,300,690		probably null	Het
Pcnx	C	A	12: 81,918,293	H411Q	probably damaging	Het
Podxl	A	G	6: 31,523,116	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,856,268	S530P	possibly damaging	Het
Scin	A	G	12: 40,077,510	I427T	possibly damaging	Het
Sgo2b	T	C	8: 63,928,527	T424A	probably benign	Het
Slc22a2	T	C	17: 12,599,125	I196T	probably benign	Het
Slc47a2	C	A	11: 61,338,082	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386	V99M	probably damaging	Het
Sprr2k	T	C	3: 92,433,456		probably benign	Het
Spta1	G	A	1: 174,211,647	M1185I	probably benign	Het
Uaca	T	C	9: 60,869,891	V518A	probably damaging	Het
Ubr3	C	T	2: 69,977,774	Q1200*	probably null	Het
Ufm1	A	G	3: 53,859,281		probably benign	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp142	G	A	1: 74,570,619	T1236I	probably benign	Het
Zfp236	A	G	18: 82,633,109	Y845H	probably damaging	Het
Zfp787	T	C	7: 6,132,764	K163E	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
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
Z1177:Map4k1	UTSW	7	29000008	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTCTGGAATACACACTTCCTGG -3'
(R):5'- TTATTGCCCAGGAAAAGACAGG -3'

Sequencing Primer
(F):5'- GGAATACACACTTCCTGGCTATC -3'
(R):5'- GACAGGCAAGACCCACAGG -3'

Posted On

2014-08-25