Mutagenetix > Incidental Mutations

Incidental Mutation 'R6259:Map4k5'

506573

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

044376-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69803750-69893200 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69852740 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000126006 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049239
AA Change: S113P

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

SMART Domains

Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: S113P

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: S113P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: S113P

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: S113P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: S113P

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: ENSMUST00000147451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153712

Predicted Effect

probably damaging
Transcript: ENSMUST00000171211
AA Change: S46P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: S46P

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: ENSMUST00000180861

Meta Mutation Damage Score

0.2190

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,513	Y96C	probably benign	Het
5730507C01Rik	C	A	12: 18,534,119	N393K	probably benign	Het
Acap3	A	T	4: 155,896,118	I19F	possibly damaging	Het
Adamts5	C	T	16: 85,899,753	R172H	probably benign	Het
Adgra3	A	G	5: 49,999,141	F416L	possibly damaging	Het
Amy1	T	C	3: 113,569,410	D96G	possibly damaging	Het
Ank2	A	G	3: 127,016,986	S484P	probably benign	Het
Arsa	A	G	15: 89,475,521	C68R	probably damaging	Het
Asprv1	A	G	6: 86,628,379	Y69C	probably benign	Het
Ass1	A	G	2: 31,488,642	E162G	possibly damaging	Het
Atf7	G	T	15: 102,547,238	N230K	probably damaging	Het
Atp10b	A	G	11: 43,201,238	M367V	probably benign	Het
Atp11b	A	G	3: 35,806,901	Y179C	probably damaging	Het
BC004004	A	T	17: 29,298,712	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,368,760	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,397,656		probably null	Het
Caskin2	C	T	11: 115,800,453	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,291,530	R351W	possibly damaging	Het
Col11a1	T	C	3: 114,138,447	C89R	probably benign	Het
Csrp1	T	G	1: 135,739,514		probably null	Het
Cwf19l2	T	C	9: 3,458,879	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,771,392	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,584,006	Y165F	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dennd1c	G	A	17: 57,067,104	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,752,308	V818A	probably benign	Het
Dst	T	A	1: 34,182,396	V2427E	probably benign	Het
Duox1	C	T	2: 122,344,783	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,285,684		probably benign	Het
Epc2	T	A	2: 49,488,854		probably null	Het
Eya2	T	C	2: 165,716,099	V205A	probably benign	Het
Fam84a	T	A	12: 14,150,645	D27V	probably damaging	Het
Fat4	A	G	3: 39,007,246	H4326R	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm10100	G	T	10: 77,726,664	C60F	possibly damaging	Het
Hhip	T	A	8: 79,972,404	R678W	probably damaging	Het
Il21r	T	A	7: 125,630,719	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kif26b	T	C	1: 178,917,405	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,681,927	E317G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrr1	A	G	12: 69,174,815	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,702,247	H422L	probably benign	Het
Ngf	A	G	3: 102,509,797		probably benign	Het
Nploc4	T	C	11: 120,385,865	I452V	probably benign	Het
Oas1d	T	A	5: 120,919,181	Y283*	probably null	Het
Olfr1156	T	C	2: 87,949,435	N266S	probably benign	Het
Olfr1463	A	G	19: 13,234,421	H57R	probably damaging	Het
Olfr648	A	T	7: 104,180,054	M118K	possibly damaging	Het
Olfr689	A	T	7: 105,314,057	I18F	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Peg3	A	G	7: 6,709,811	V804A	probably damaging	Het
Piezo2	T	A	18: 63,117,678	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,064,410	V789E	probably damaging	Het
Prcc	A	G	3: 87,862,147	M436T	possibly damaging	Het
Prepl	A	T	17: 85,070,431	V507D	probably damaging	Het
Rag1	T	A	2: 101,644,452	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,681,757		probably null	Het
Reln	A	C	5: 22,060,333	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,463,954	S150T	probably benign	Het
Slc45a1	T	A	4: 150,638,360	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,218,423	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,949,381	D353V	possibly damaging	Het
Susd2	T	C	10: 75,638,046	S572G	probably damaging	Het
Synrg	T	A	11: 84,008,658	D563E	probably damaging	Het
Tmem131	C	T	1: 36,819,128	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,277,524		probably null	Het
Trim26	C	T	17: 36,856,218	A267V	probably benign	Het
Trpm1	T	G	7: 64,268,478	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,234,916	I29V	probably benign	Het
Unc5d	C	T	8: 28,666,792	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,463,109	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,687,170	Y1436*	probably null	Het
Wdfy3	C	T	5: 101,872,965	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,912,781	V385F	probably benign	Het
Zfp541	C	T	7: 16,095,526	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	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
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
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
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'- TCATTCAGGAGGAAAGCACG -3'
(R):5'- AGCTGCCTGGGAATAAAGC -3'

Sequencing Primer
(F):5'- TTTCGGACAGACCACCAT -3'
(R):5'- GCCTGGGAATAAAGCTCTTATTTTC -3'

Posted On

2018-03-15