Mutagenetix > Incidental Mutations

Incidental Mutation 'R5566:Map3k5'

501204

Institutional Source

Beutler Lab

Gene Symbol

Map3k5

Ensembl Gene

ENSMUSG00000071369

Gene Name

mitogen-activated protein kinase kinase kinase 5

Synonyms

ASK, ASK1, 7420452D20Rik, Mekk5

MMRRC Submission

043123-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19934472-20142753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20110719 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 893 (V893A)

Ref Sequence

ENSEMBL: ENSMUSP00000112864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095806
AA Change: V901A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: V901A

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
Pfam:DUF4071	172	552	2.1e-162	PFAM
S_TKc	687	945	8.08e-92	SMART
low complexity region	1195	1207	N/A	INTRINSIC
low complexity region	1225	1238	N/A	INTRINSIC
coiled coil region	1251	1292	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120259
AA Change: V893A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: V893A

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
Pfam:DUF4071	172	544	1.7e-156	PFAM
S_TKc	679	937	8.08e-92	SMART
low complexity region	1187	1199	N/A	INTRINSIC
low complexity region	1217	1230	N/A	INTRINSIC
coiled coil region	1243	1284	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455		probably null	Het
Adh4	A	T	3: 138,424,189	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648	D280G	probably benign	Het
Baiap3	T	C	17: 25,251,733	E71G	probably damaging	Het
BC030867	T	A	11: 102,255,833	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523		probably null	Het
Csmd2	T	C	4: 128,462,889		probably null	Het
Ctps	A	T	4: 120,554,103		probably null	Het
Cyp39a1	T	A	17: 43,685,208	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569	E158*	probably null	Het
Edar	A	G	10: 58,628,641	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766	C339*	probably null	Het
Eif5b	G	A	1: 38,045,684	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,051,247	G1169E	probably damaging	Het
Erap1	A	G	13: 74,662,412	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,810,924	V338M	probably damaging	Het
Gabra6	T	C	11: 42,307,490	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754	Y167*	probably null	Het
Htt	T	C	5: 34,849,075	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164	Q4592R	probably damaging	Het
Med13l	G	T	5: 118,728,665	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603	T362I	possibly damaging	Het
Sos1	C	T	17: 80,453,890	V126I	possibly damaging	Het
Srcap	T	C	7: 127,525,303	F215S	probably damaging	Het
Supt4a	T	A	11: 87,743,287	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050	E300*	probably null	Het
Xdh	T	C	17: 73,893,622	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824	E285G	probably damaging	Het

Other mutations in Map3k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Map3k5	APN	10	19935044	missense	possibly damaging	0.73
IGL00978:Map3k5	APN	10	20141567	missense	probably damaging	1.00
IGL01470:Map3k5	APN	10	20118187	missense	possibly damaging	0.89
IGL01992:Map3k5	APN	10	20029133	nonsense	probably null
IGL02479:Map3k5	APN	10	20056484	missense	probably damaging	1.00
IGL02728:Map3k5	APN	10	20118292	missense	possibly damaging	0.71
IGL02812:Map3k5	APN	10	20025036	missense	probably damaging	1.00
IGL03104:Map3k5	APN	10	20132055	missense	probably benign
P0033:Map3k5	UTSW	10	20132213	splice site	probably benign
PIT4434001:Map3k5	UTSW	10	20026257	missense	probably damaging	0.98
R0284:Map3k5	UTSW	10	20000613	missense	probably damaging	0.99
R1103:Map3k5	UTSW	10	20023676	missense	probably benign	0.00
R1172:Map3k5	UTSW	10	20056648	intron	probably benign
R1250:Map3k5	UTSW	10	20110775	missense	possibly damaging	0.73
R1493:Map3k5	UTSW	10	20029113	missense	probably damaging	1.00
R1634:Map3k5	UTSW	10	20136911	missense	possibly damaging	0.64
R1693:Map3k5	UTSW	10	20104242	missense	probably damaging	1.00
R1713:Map3k5	UTSW	10	20110847	missense	possibly damaging	0.79
R1832:Map3k5	UTSW	10	20099560	missense	probably damaging	1.00
R1844:Map3k5	UTSW	10	20104163	missense	probably benign	0.33
R1869:Map3k5	UTSW	10	20132109	nonsense	probably null
R2156:Map3k5	UTSW	10	20024937	missense	probably damaging	1.00
R2214:Map3k5	UTSW	10	20026289	critical splice donor site	probably null
R2221:Map3k5	UTSW	10	20067920	missense	possibly damaging	0.96
R2223:Map3k5	UTSW	10	20067920	missense	possibly damaging	0.96
R2249:Map3k5	UTSW	10	20127697	missense	probably damaging	0.99
R2418:Map3k5	UTSW	10	20110857	missense	probably benign	0.02
R2513:Map3k5	UTSW	10	20094455	missense	possibly damaging	0.92
R3014:Map3k5	UTSW	10	20094429	missense	probably damaging	1.00
R3770:Map3k5	UTSW	10	20025019	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20026190	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20140680	missense	probably damaging	0.99
R4706:Map3k5	UTSW	10	20058938	missense	probably damaging	1.00
R4749:Map3k5	UTSW	10	20132052	missense	probably benign	0.42
R4903:Map3k5	UTSW	10	20118489	missense	probably null	1.00
R4958:Map3k5	UTSW	10	20023789	missense	possibly damaging	0.79
R5065:Map3k5	UTSW	10	20082467	missense	probably damaging	1.00
R5210:Map3k5	UTSW	10	20024901	missense	possibly damaging	0.82
R5245:Map3k5	UTSW	10	20140691	missense	probably benign	0.00
R5304:Map3k5	UTSW	10	20108238	missense	probably benign	0.13
R5428:Map3k5	UTSW	10	20023653	missense	possibly damaging	0.93
R5914:Map3k5	UTSW	10	20104255	missense	probably benign	0.24
R6155:Map3k5	UTSW	10	20118441	missense	probably benign	0.01
R6161:Map3k5	UTSW	10	20000575	missense	probably damaging	0.98
R6191:Map3k5	UTSW	10	20023669	missense	probably damaging	0.99
R6251:Map3k5	UTSW	10	20138260	splice site	probably null
R6800:Map3k5	UTSW	10	20141580	makesense	probably null
R7304:Map3k5	UTSW	10	20099555	missense	probably damaging	1.00
R7722:Map3k5	UTSW	10	20132145	missense	probably benign	0.04
R8058:Map3k5	UTSW	10	20132114	missense	probably damaging	0.99
RF024:Map3k5	UTSW	10	20100172	missense	probably damaging	1.00
X0017:Map3k5	UTSW	10	20118434	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAGAAGGCACATCTCAGAC -3'
(R):5'- GCTTAAGATTCAGAAACCGACC -3'

Sequencing Primer
(F):5'- ACCACCTGGAGAAACGGCTG -3'
(R):5'- CAACATACCTGAAAGTTTGGGTTGTG -3'

Posted On

2017-12-01