Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Map4k5'

374688

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

042473-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69803750-69893200 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69818438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 591 (P591L)

Ref Sequence

ENSEMBL: ENSMUSP00000106199 (fasta)

Gene Model

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

AlphaFold

Q8BPM2

Predicted Effect

probably benign
Transcript: ENSMUST00000049239
AA Change: P591L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: P591L

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
AA Change: P572L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: P572L

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
AA Change: P591L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: P591L

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: ENSMUST00000126584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153712

Predicted Effect

probably benign
Transcript: ENSMUST00000171211
AA Change: P524L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: P524L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222163

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512		probably null	Het
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abcc12	T	A	8: 86,538,376	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230		probably benign	Het
Dok3	G	A	13: 55,523,457	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945		probably benign	Het
Fnip1	G	A	11: 54,515,556	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989		probably benign	Het
Gtf3c2	A	G	5: 31,159,233		probably benign	Het
H2-M10.3	T	C	17: 36,366,636	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946	S132P	probably damaging	Het
Lama3	C	T	18: 12,539,793	A2481V	probably damaging	Het
Lama3	T	C	18: 12,498,678		probably benign	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871		probably benign	Het
Lrrc14	T	A	15: 76,713,362		probably null	Het
Mapk13	C	A	17: 28,776,310	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281		probably null	Het
Mical3	T	C	6: 121,033,787	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596		probably null	Het
Nxpe3	A	T	16: 55,849,633	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802		probably null	Het
Pou2f2	A	G	7: 25,097,108		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702		probably benign	Het
Ppp1r42	T	C	1: 10,003,386		probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139	M438V	probably benign	Het
Recql	T	G	6: 142,359,006		probably benign	Het
Rftn2	A	G	1: 55,172,039	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790	L382*	probably null	Het
Stard9	T	A	2: 120,700,860	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882		probably benign	Het
Yipf4	A	G	17: 74,494,092	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp426	T	C	9: 20,470,038	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772	Y430S	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
R0731:Map4k5	UTSW	12	69874264	intron	probably benign
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
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'- CACCCTGGACTCTGACCTTATAG -3'
(R):5'- TACTGGACTCGCCACCTTAGAAG -3'

Sequencing Primer
(F):5'- TGTGAATTATTTGTAGTCTGGATGAC -3'
(R):5'- CCTGGAACTCACCATGTAGAGTTG -3'

Posted On

2016-03-17