Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Map4k5'

67584

Institutional Source

Beutler Lab

Gene Symbol

Map4k5

Ensembl Gene

ENSMUSG00000034761

Gene Name

mitogen-activated protein kinase kinase kinase kinase 5

Synonyms

MAPKKKK5, GCKR, KHS, 4432415E19Rik

MMRRC Submission

038912-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69803750-69893200 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 69874264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049239] [ENSMUST00000110567] [ENSMUST00000110570] [ENSMUST00000171211]

AlphaFold

Q8BPM2

Predicted Effect

probably benign
Transcript: ENSMUST00000049239

SMART Domains

Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761

Domain	Start	End	E-Value	Type
S_TKc	20	277	4.07e-88	SMART
low complexity region	389	396	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
CNH	512	827	4.57e-142	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110567

SMART Domains

Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761

Domain	Start	End	E-Value	Type
S_TKc	20	277	4.07e-88	SMART
low complexity region	370	377	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC
CNH	493	808	3.98e-142	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110570

SMART Domains

Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761

Domain	Start	End	E-Value	Type
S_TKc	20	277	4.07e-88	SMART
low complexity region	389	396	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
CNH	512	827	3.98e-142	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153712

Predicted Effect

probably benign
Transcript: ENSMUST00000171211

SMART Domains

Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	208	2e-32	PFAM
Pfam:Pkinase	1	210	6.2e-52	PFAM
low complexity region	322	329	N/A	INTRINSIC
low complexity region	404	415	N/A	INTRINSIC
CNH	445	760	4.57e-142	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and phenotypically normal but show impaired canonical and noncanonical Wnt signaling in progenitor B lymphocytes. Mice homozygous for a gene trap exhibit hypoalgesia, increased serum IgG1 and an increased percentage of peripheral blood CD4+ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Map4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Map4k5	APN	12	69845732	missense	probably damaging	1.00
IGL01013:Map4k5	APN	12	69827526	splice site	probably benign
IGL01309:Map4k5	APN	12	69841963	missense	probably benign	0.00
IGL02314:Map4k5	APN	12	69818439	missense	probably benign	0.05
IGL02612:Map4k5	APN	12	69849584	missense	possibly damaging	0.63
IGL02620:Map4k5	APN	12	69892702	missense	probably benign	0.05
IGL02749:Map4k5	APN	12	69815806	missense	probably benign	0.25
R0662:Map4k5	UTSW	12	69813153	missense	probably damaging	1.00
R0828:Map4k5	UTSW	12	69805326	missense	probably damaging	0.98
R1026:Map4k5	UTSW	12	69874288	missense	possibly damaging	0.95
R1178:Map4k5	UTSW	12	69816378	missense	probably damaging	0.99
R1464:Map4k5	UTSW	12	69805350	missense	possibly damaging	0.89
R1464:Map4k5	UTSW	12	69805350	missense	possibly damaging	0.89
R1615:Map4k5	UTSW	12	69844413	missense	probably damaging	1.00
R1632:Map4k5	UTSW	12	69828047	missense	probably benign
R1652:Map4k5	UTSW	12	69830427	critical splice donor site	probably null
R1677:Map4k5	UTSW	12	69805308	missense	probably benign	0.01
R1835:Map4k5	UTSW	12	69824662	missense	probably damaging	1.00
R1895:Map4k5	UTSW	12	69845755	missense	probably damaging	1.00
R1946:Map4k5	UTSW	12	69845755	missense	probably damaging	1.00
R1968:Map4k5	UTSW	12	69818492	missense	probably damaging	0.99
R1971:Map4k5	UTSW	12	69826328	missense	possibly damaging	0.81
R1987:Map4k5	UTSW	12	69842912	missense	probably damaging	1.00
R2070:Map4k5	UTSW	12	69816337	missense	probably damaging	0.99
R2471:Map4k5	UTSW	12	69856846	missense	probably benign	0.30
R3417:Map4k5	UTSW	12	69809264	missense	probably damaging	1.00
R4133:Map4k5	UTSW	12	69845723	missense	probably damaging	1.00
R4331:Map4k5	UTSW	12	69827374	missense	probably benign	0.00
R4388:Map4k5	UTSW	12	69845809	missense	probably damaging	1.00
R4685:Map4k5	UTSW	12	69811366	missense	probably benign
R4760:Map4k5	UTSW	12	69824598	missense	possibly damaging	0.49
R4822:Map4k5	UTSW	12	69841984	nonsense	probably null
R4863:Map4k5	UTSW	12	69818438	missense	probably benign	0.04
R4971:Map4k5	UTSW	12	69852719	missense	possibly damaging	0.60
R5038:Map4k5	UTSW	12	69824614	missense	probably damaging	1.00
R5055:Map4k5	UTSW	12	69831558	missense	probably benign
R5248:Map4k5	UTSW	12	69841981	missense	probably benign	0.36
R5428:Map4k5	UTSW	12	69838013	missense	possibly damaging	0.94
R5697:Map4k5	UTSW	12	69830436	missense	probably benign
R5757:Map4k5	UTSW	12	69824655	missense	probably damaging	1.00
R5955:Map4k5	UTSW	12	69844390	missense	probably damaging	1.00
R6258:Map4k5	UTSW	12	69831562	missense	probably benign	0.06
R6259:Map4k5	UTSW	12	69852740	missense	probably damaging	0.97
R6260:Map4k5	UTSW	12	69831562	missense	probably benign	0.06
R6796:Map4k5	UTSW	12	69818025	missense	probably benign	0.01
R6979:Map4k5	UTSW	12	69822848	missense	probably damaging	1.00
R7164:Map4k5	UTSW	12	69830436	missense	probably benign
R7184:Map4k5	UTSW	12	69874321	missense	probably benign	0.00
R7598:Map4k5	UTSW	12	69824638	missense	possibly damaging	0.75
R8395:Map4k5	UTSW	12	69830429	missense	probably null
R8445:Map4k5	UTSW	12	69850967	missense	probably damaging	1.00
R8757:Map4k5	UTSW	12	69850824	critical splice donor site	probably benign
R8827:Map4k5	UTSW	12	69856861	missense	possibly damaging	0.88
R8896:Map4k5	UTSW	12	69823501	missense	possibly damaging	0.94
R8898:Map4k5	UTSW	12	69813157	missense	possibly damaging	0.88
R9224:Map4k5	UTSW	12	69892693	missense	possibly damaging	0.61
R9563:Map4k5	UTSW	12	69816393	missense	probably benign	0.40
RF002:Map4k5	UTSW	12	69856856	missense	probably damaging	0.96
X0062:Map4k5	UTSW	12	69824607	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTAGCAacatacacacacacacacac -3'
(R):5'- GCCTCCCATTGTCAGGGCTTCA -3'

Sequencing Primer
(F):5'- acacttacacacatacatacatacac -3'
(R):5'- tctgtcacttgaaacattgcc -3'

Posted On

2013-09-03