Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Map4k5'

602575

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69803750-69893200 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69856856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 58 (D58E)

Ref Sequence

ENSEMBL: ENSMUSP00000047812 (fasta)

Gene Model

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

AlphaFold

Q8BPM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049239
AA Change: D58E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: D58E

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 damaging
Transcript: ENSMUST00000110567
AA Change: D58E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: D58E

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

possibly damaging
Transcript: ENSMUST00000110570
AA Change: D58E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: D58E

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	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
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
X0062:Map4k5	UTSW	12	69824607	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCAGAGTTAGAATTTTGAGCAATG -3'
(R):5'- AGTATTCACTCCAACAGCTGC -3'

Sequencing Primer
(F):5'- TGTTTTAAAAATGCACACACACGACG -3'
(R):5'- CATAGTCAGCTGCTGTGGACAATC -3'

Posted On

2019-12-04