Mutagenetix > Incidental Mutations

Incidental Mutation 'R4822:Map4k5'

371241

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

042438-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69803750-69893200 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69841984 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 224 (L224*)

Ref Sequence

ENSEMBL: ENSMUSP00000126006 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000049239
AA Change: L291*

SMART Domains

Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: L291*

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 null
Transcript: ENSMUST00000110567
AA Change: L291*

SMART Domains

Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: L291*

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 null
Transcript: ENSMUST00000110570
AA Change: L291*

SMART Domains

Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: L291*

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: ENSMUST00000153712

Predicted Effect

probably null
Transcript: ENSMUST00000171211
AA Change: L224*

SMART Domains

Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: L224*

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

Meta Mutation Damage Score

0.506

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,156,458	V243I	probably benign	Het
Acadvl	C	T	11: 70,011,184	G485S	probably benign	Het
Acap3	T	A	4: 155,902,451		probably benign	Het
Adamts19	A	G	18: 58,890,284	I250M	probably damaging	Het
AF067061	A	T	13: 120,264,150	T117S	probably damaging	Het
Amacr	T	A	15: 10,983,410	I102N	probably damaging	Het
Apob	A	G	12: 8,015,741	T4237A	probably benign	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bicd1	A	T	6: 149,519,254		probably benign	Het
Caskin2	T	A	11: 115,807,299	E49V	probably damaging	Het
Cemip	T	A	7: 83,973,241	I577F	probably benign	Het
Chrnb1	T	C	11: 69,795,675	S40G	possibly damaging	Het
Ctif	C	T	18: 75,521,561	C298Y	probably benign	Het
Cul9	A	C	17: 46,530,051	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839	C763S	probably damaging	Het
Dhx57	A	T	17: 80,242,167		probably null	Het
Dnhd1	G	A	7: 105,703,964	D2775N	probably benign	Het
Enpp1	A	T	10: 24,661,935	M384K	possibly damaging	Het
Fat2	T	C	11: 55,311,318	N310S	probably benign	Het
Fbxw7	A	T	3: 84,967,507	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,812,686	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,967,186	W81*	probably null	Het
Gm5592	A	G	7: 41,155,890		probably benign	Het
Gm5745	T	C	9: 73,175,698		noncoding transcript	Het
Gm6185	G	C	1: 161,213,254		noncoding transcript	Het
Hid1	T	A	11: 115,355,299	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,232,589	F68I	probably damaging	Het
Ift88	T	A	14: 57,441,869		probably null	Het
Ighg2b	A	T	12: 113,306,391	*336R	probably null	Het
Ighv7-2	A	C	12: 113,912,272	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,667,289	V703L	possibly damaging	Het
Kiz	C	A	2: 146,891,069	S388R	probably damaging	Het
Klhl20	G	A	1: 161,093,763	Q41*	probably null	Het
Krt31	T	C	11: 100,047,784	I328V	possibly damaging	Het
Lama4	A	T	10: 39,033,053	I330L	probably benign	Het
Lipo2	A	T	19: 33,745,751	S213T	probably benign	Het
Lrsam1	A	T	2: 32,926,792	I723N	probably damaging	Het
Man2b2	G	A	5: 36,815,521	R550W	probably damaging	Het
Mast3	A	G	8: 70,780,366	S1101P	probably damaging	Het
Mertk	A	G	2: 128,801,305	S875G	probably benign	Het
Mmel1	A	G	4: 154,887,897	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,589,968	H70L	possibly damaging	Het
Myh3	T	A	11: 67,089,010	S592T	probably benign	Het
Nbeal2	T	C	9: 110,636,315	I451V	possibly damaging	Het
Nup155	T	A	15: 8,128,526	V489D	possibly damaging	Het
Obscn	T	A	11: 59,022,333	T6300S	probably benign	Het
Olfr1294	G	T	2: 111,537,452	T279K	probably damaging	Het
Olfr1377	T	A	11: 50,985,083	C127*	probably null	Het
Olfr290	A	C	7: 84,916,426	I216L	possibly damaging	Het
Olfr350	A	G	2: 36,850,876	M277V	probably benign	Het
Oprm1	A	G	10: 6,829,036	I146V	probably damaging	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,437,982	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,416,514		probably null	Het
Plekha8	A	G	6: 54,624,561	D321G	probably damaging	Het
Pprc1	T	C	19: 46,071,356		probably benign	Het
Prkdc	A	G	16: 15,650,712	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,944,373		probably benign	Het
Rictor	T	A	15: 6,791,680	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,119,509		noncoding transcript	Het
Ryr3	A	T	2: 112,652,745	I4219N	probably damaging	Het
Sbf2	G	A	7: 110,377,939		probably benign	Het
Scn10a	C	T	9: 119,638,672	A801T	probably damaging	Het
Scn9a	T	A	2: 66,483,749	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,679,303	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,662,294	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,828,555		probably benign	Het
Slc2a4	A	G	11: 69,946,587	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,621,740	I326T	possibly damaging	Het
Smarca5	T	C	8: 80,708,680		probably null	Het
Smarcd2	A	G	11: 106,266,531		probably null	Het
Snrpa1	A	T	7: 66,069,573		probably benign	Het
Sptbn5	T	G	2: 120,067,968	K470Q	probably benign	Het
Stard9	T	G	2: 120,695,941	V893G	possibly damaging	Het
Stx8	T	G	11: 67,973,273	V53G	possibly damaging	Het
Sv2c	A	T	13: 95,985,949	W440R	probably damaging	Het
Tmem181a	A	T	17: 6,280,665	I67F	probably benign	Het
Tmprss7	C	T	16: 45,663,316	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,378,498	L109H	probably damaging	Het
Trpv4	A	G	5: 114,630,022	I422T	possibly damaging	Het
Usp24	T	A	4: 106,416,047	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,286,940	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,174,072	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,134,539	I252F	probably damaging	Het
Vsig8	A	G	1: 172,559,638	D27G	probably damaging	Het
Wdr92	T	A	11: 17,227,165	N174K	probably damaging	Het
Wiz	A	T	17: 32,356,437	Y908*	probably null	Het
Wnk1	A	T	6: 119,962,438	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp691	G	T	4: 119,170,567	T156K	probably damaging	Het
Zfp791	A	T	8: 85,110,406	D276E	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
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
X0062:Map4k5	UTSW	12	69824607	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGGAGTAGGAAAGCCTTCG -3'
(R):5'- TCTCAATGCAGACTCCCCTG -3'

Sequencing Primer
(F):5'- TATTGATCCAGGCCAAGCTG -3'
(R):5'- GCTCATCTCTTCTTACAAGTTACTG -3'

Posted On

2016-03-01