Mutagenetix > Incidental Mutation

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

KHS, GCKR, 4432415E19Rik, MAPKKKK5

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69850531-69939937 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69888758 bp (GRCm39)

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]

AlphaFold

Q8BPM2

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

0.9755

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: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	Het

Other mutations in Map4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Map4k5	APN	12	69,892,506 (GRCm39)	missense	probably damaging	1.00
IGL01013:Map4k5	APN	12	69,874,300 (GRCm39)	splice site	probably benign
IGL01309:Map4k5	APN	12	69,888,737 (GRCm39)	missense	probably benign	0.00
IGL02314:Map4k5	APN	12	69,865,213 (GRCm39)	missense	probably benign	0.05
IGL02612:Map4k5	APN	12	69,896,358 (GRCm39)	missense	possibly damaging	0.63
IGL02620:Map4k5	APN	12	69,939,476 (GRCm39)	missense	probably benign	0.05
IGL02749:Map4k5	APN	12	69,862,580 (GRCm39)	missense	probably benign	0.25
R0662:Map4k5	UTSW	12	69,859,927 (GRCm39)	missense	probably damaging	1.00
R0731:Map4k5	UTSW	12	69,921,038 (GRCm39)	intron	probably benign
R0828:Map4k5	UTSW	12	69,852,100 (GRCm39)	missense	probably damaging	0.98
R1026:Map4k5	UTSW	12	69,921,062 (GRCm39)	missense	possibly damaging	0.95
R1178:Map4k5	UTSW	12	69,863,152 (GRCm39)	missense	probably damaging	0.99
R1464:Map4k5	UTSW	12	69,852,124 (GRCm39)	missense	possibly damaging	0.89
R1464:Map4k5	UTSW	12	69,852,124 (GRCm39)	missense	possibly damaging	0.89
R1615:Map4k5	UTSW	12	69,891,187 (GRCm39)	missense	probably damaging	1.00
R1632:Map4k5	UTSW	12	69,874,821 (GRCm39)	missense	probably benign
R1652:Map4k5	UTSW	12	69,877,201 (GRCm39)	critical splice donor site	probably null
R1677:Map4k5	UTSW	12	69,852,082 (GRCm39)	missense	probably benign	0.01
R1835:Map4k5	UTSW	12	69,871,436 (GRCm39)	missense	probably damaging	1.00
R1895:Map4k5	UTSW	12	69,892,529 (GRCm39)	missense	probably damaging	1.00
R1946:Map4k5	UTSW	12	69,892,529 (GRCm39)	missense	probably damaging	1.00
R1968:Map4k5	UTSW	12	69,865,266 (GRCm39)	missense	probably damaging	0.99
R1971:Map4k5	UTSW	12	69,873,102 (GRCm39)	missense	possibly damaging	0.81
R1987:Map4k5	UTSW	12	69,889,686 (GRCm39)	missense	probably damaging	1.00
R2070:Map4k5	UTSW	12	69,863,111 (GRCm39)	missense	probably damaging	0.99
R2471:Map4k5	UTSW	12	69,903,620 (GRCm39)	missense	probably benign	0.30
R3417:Map4k5	UTSW	12	69,856,038 (GRCm39)	missense	probably damaging	1.00
R4133:Map4k5	UTSW	12	69,892,497 (GRCm39)	missense	probably damaging	1.00
R4331:Map4k5	UTSW	12	69,874,148 (GRCm39)	missense	probably benign	0.00
R4388:Map4k5	UTSW	12	69,892,583 (GRCm39)	missense	probably damaging	1.00
R4685:Map4k5	UTSW	12	69,858,140 (GRCm39)	missense	probably benign
R4760:Map4k5	UTSW	12	69,871,372 (GRCm39)	missense	possibly damaging	0.49
R4863:Map4k5	UTSW	12	69,865,212 (GRCm39)	missense	probably benign	0.04
R4971:Map4k5	UTSW	12	69,899,493 (GRCm39)	missense	possibly damaging	0.60
R5038:Map4k5	UTSW	12	69,871,388 (GRCm39)	missense	probably damaging	1.00
R5055:Map4k5	UTSW	12	69,878,332 (GRCm39)	missense	probably benign
R5248:Map4k5	UTSW	12	69,888,755 (GRCm39)	missense	probably benign	0.36
R5428:Map4k5	UTSW	12	69,884,787 (GRCm39)	missense	possibly damaging	0.94
R5697:Map4k5	UTSW	12	69,877,210 (GRCm39)	missense	probably benign
R5757:Map4k5	UTSW	12	69,871,429 (GRCm39)	missense	probably damaging	1.00
R5955:Map4k5	UTSW	12	69,891,164 (GRCm39)	missense	probably damaging	1.00
R6258:Map4k5	UTSW	12	69,878,336 (GRCm39)	missense	probably benign	0.06
R6259:Map4k5	UTSW	12	69,899,514 (GRCm39)	missense	probably damaging	0.97
R6260:Map4k5	UTSW	12	69,878,336 (GRCm39)	missense	probably benign	0.06
R6796:Map4k5	UTSW	12	69,864,799 (GRCm39)	missense	probably benign	0.01
R6979:Map4k5	UTSW	12	69,869,622 (GRCm39)	missense	probably damaging	1.00
R7164:Map4k5	UTSW	12	69,877,210 (GRCm39)	missense	probably benign
R7184:Map4k5	UTSW	12	69,921,095 (GRCm39)	missense	probably benign	0.00
R7598:Map4k5	UTSW	12	69,871,412 (GRCm39)	missense	possibly damaging	0.75
R8395:Map4k5	UTSW	12	69,877,203 (GRCm39)	missense	probably null
R8445:Map4k5	UTSW	12	69,897,741 (GRCm39)	missense	probably damaging	1.00
R8757:Map4k5	UTSW	12	69,897,598 (GRCm39)	critical splice donor site	probably benign
R8827:Map4k5	UTSW	12	69,903,635 (GRCm39)	missense	possibly damaging	0.88
R8896:Map4k5	UTSW	12	69,870,275 (GRCm39)	missense	possibly damaging	0.94
R8898:Map4k5	UTSW	12	69,859,931 (GRCm39)	missense	possibly damaging	0.88
R9224:Map4k5	UTSW	12	69,939,467 (GRCm39)	missense	possibly damaging	0.61
R9563:Map4k5	UTSW	12	69,863,167 (GRCm39)	missense	probably benign	0.40
RF002:Map4k5	UTSW	12	69,903,630 (GRCm39)	missense	probably damaging	0.96
X0062:Map4k5	UTSW	12	69,871,381 (GRCm39)	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