Mutagenetix > Incidental Mutation

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

ASK1, 7420452D20Rik, ASK, Mekk5

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19810218-20018499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19986465 bp (GRCm39)

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]

AlphaFold

O35099

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
Abca13	T	A	11: 9,244,615 (GRCm39)	Y2159*	probably null	Het
Abca3	A	G	17: 24,602,901 (GRCm39)	T499A	probably benign	Het
Abcb5	T	A	12: 118,899,702 (GRCm39)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,078,419 (GRCm39)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,592,765 (GRCm39)		probably null	Het
Adh4	A	T	3: 138,129,950 (GRCm39)	I259F	probably damaging	Het
Aff3	G	A	1: 38,220,505 (GRCm39)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,370,105 (GRCm39)	D280G	probably benign	Het
Baiap3	T	C	17: 25,470,707 (GRCm39)	E71G	probably damaging	Het
Calb2	A	G	8: 110,879,332 (GRCm39)	I91T	possibly damaging	Het
Ccr5	A	G	9: 123,924,697 (GRCm39)	N100S	probably benign	Het
Cep57	G	T	9: 13,732,871 (GRCm39)	R25S	probably damaging	Het
Chadl	A	G	15: 81,580,079 (GRCm39)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,362,438 (GRCm39)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,775,593 (GRCm39)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,628,316 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,356,682 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,411,300 (GRCm39)		probably null	Het
Cyp39a1	T	A	17: 43,996,099 (GRCm39)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,380,848 (GRCm39)	Y54N	probably benign	Het
Dmbt1	A	T	7: 130,708,003 (GRCm39)	D1241V	probably damaging	Het
Dnah1	A	T	14: 30,996,323 (GRCm39)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,407,395 (GRCm39)	E158*	probably null	Het
Dynlt2b	A	G	16: 32,238,718 (GRCm39)	Y31C	probably damaging	Het
Edar	A	G	10: 58,464,463 (GRCm39)	S59P	possibly damaging	Het
Egr2	T	A	10: 67,376,596 (GRCm39)	C339*	probably null	Het
Eif5b	G	A	1: 38,084,765 (GRCm39)	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,090,328 (GRCm39)	G1169E	probably damaging	Het
Erap1	A	G	13: 74,810,531 (GRCm39)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,544,849 (GRCm39)	V338M	probably damaging	Het
Gabra6	T	C	11: 42,198,317 (GRCm39)	T378A	probably benign	Het
Gm4924	C	A	10: 82,214,475 (GRCm39)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,545,000 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,543,919 (GRCm39)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,837,901 (GRCm39)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,534,368 (GRCm39)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Herc1	T	A	9: 66,372,819 (GRCm39)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,191,580 (GRCm39)	Y167*	probably null	Het
Hrob	T	A	11: 102,146,659 (GRCm39)	S312T	probably damaging	Het
Htt	T	C	5: 35,006,419 (GRCm39)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,224,470 (GRCm39)	D28G	probably damaging	Het
Impact	T	G	18: 13,107,819 (GRCm39)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,334,926 (GRCm39)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,676,554 (GRCm39)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,559,338 (GRCm39)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,123,788 (GRCm39)	L131R	probably damaging	Het
Kif2a	A	T	13: 107,130,432 (GRCm39)	M1K	probably null	Het
Lrsam1	C	A	2: 32,831,870 (GRCm39)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,328,957 (GRCm39)	Q4592R	probably damaging	Het
Med13l	G	T	5: 118,866,730 (GRCm39)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,761,211 (GRCm39)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,495,356 (GRCm39)	L471P	probably damaging	Het
Myo7a	T	C	7: 97,714,023 (GRCm39)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,552,136 (GRCm39)	S352C	probably damaging	Het
Nfat5	T	A	8: 108,095,767 (GRCm39)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,248,129 (GRCm39)	L668F	probably damaging	Het
Or12j2	C	A	7: 139,915,980 (GRCm39)	D68E	probably damaging	Het
Or7e178	T	C	9: 20,225,265 (GRCm39)	Q309R	probably benign	Het
Or8j3c	G	A	2: 86,253,721 (GRCm39)	Q100*	probably null	Het
Plxnb2	T	C	15: 89,048,223 (GRCm39)	T696A	probably benign	Het
Prkab2	T	A	3: 97,569,609 (GRCm39)	F58L	probably benign	Het
Prpf4	G	T	4: 62,334,206 (GRCm39)	L220F	probably benign	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Raet1e	T	C	10: 22,050,304 (GRCm39)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,336,630 (GRCm39)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,430,173 (GRCm39)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,669,520 (GRCm39)	I289F	probably damaging	Het
Rint1	T	C	5: 24,015,951 (GRCm39)	Y406H	probably damaging	Het
Rmc1	T	C	18: 12,313,749 (GRCm39)	I26T	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scn8a	T	C	15: 100,872,415 (GRCm39)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,615,538 (GRCm39)	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,412,414 (GRCm39)	T362I	possibly damaging	Het
Sos1	C	T	17: 80,761,319 (GRCm39)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,124,475 (GRCm39)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,634,113 (GRCm39)	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,138,015 (GRCm39)	T232S	probably damaging	Het
Tenm3	A	G	8: 48,732,041 (GRCm39)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,191,356 (GRCm39)	L100*	probably null	Het
Tgm1	C	A	14: 55,949,893 (GRCm39)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,593,018 (GRCm39)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,399,552 (GRCm39)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,015,251 (GRCm39)	F320I	possibly damaging	Het
Tut7	A	T	13: 59,936,443 (GRCm39)	C817*	probably null	Het
Vmn1r21	A	C	6: 57,821,079 (GRCm39)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,614,407 (GRCm39)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,852,290 (GRCm39)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,247 (GRCm39)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 85,875,286 (GRCm39)	Y564N	probably damaging	Het
Wee1	G	T	7: 109,725,257 (GRCm39)	E300*	probably null	Het
Xdh	T	C	17: 74,200,617 (GRCm39)	D1168G	probably damaging	Het
Zfp54	A	G	17: 21,653,706 (GRCm39)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,392,679 (GRCm39)	H227N	probably benign	Het
Zpr1	T	A	9: 46,192,373 (GRCm39)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,161,461 (GRCm39)	E285G	probably damaging	Het

Other mutations in Map3k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Map3k5	APN	10	19,810,790 (GRCm39)	missense	possibly damaging	0.73
IGL00978:Map3k5	APN	10	20,017,313 (GRCm39)	missense	probably damaging	1.00
IGL01470:Map3k5	APN	10	19,993,933 (GRCm39)	missense	possibly damaging	0.89
IGL01992:Map3k5	APN	10	19,904,879 (GRCm39)	nonsense	probably null
IGL02479:Map3k5	APN	10	19,932,230 (GRCm39)	missense	probably damaging	1.00
IGL02728:Map3k5	APN	10	19,994,038 (GRCm39)	missense	possibly damaging	0.71
IGL02812:Map3k5	APN	10	19,900,782 (GRCm39)	missense	probably damaging	1.00
IGL03104:Map3k5	APN	10	20,007,801 (GRCm39)	missense	probably benign
P0033:Map3k5	UTSW	10	20,007,959 (GRCm39)	splice site	probably benign
PIT4434001:Map3k5	UTSW	10	19,902,003 (GRCm39)	missense	probably damaging	0.98
R0284:Map3k5	UTSW	10	19,876,359 (GRCm39)	missense	probably damaging	0.99
R1103:Map3k5	UTSW	10	19,899,422 (GRCm39)	missense	probably benign	0.00
R1172:Map3k5	UTSW	10	19,932,394 (GRCm39)	intron	probably benign
R1250:Map3k5	UTSW	10	19,986,521 (GRCm39)	missense	possibly damaging	0.73
R1493:Map3k5	UTSW	10	19,904,859 (GRCm39)	missense	probably damaging	1.00
R1634:Map3k5	UTSW	10	20,012,657 (GRCm39)	missense	possibly damaging	0.64
R1693:Map3k5	UTSW	10	19,979,988 (GRCm39)	missense	probably damaging	1.00
R1713:Map3k5	UTSW	10	19,986,593 (GRCm39)	missense	possibly damaging	0.79
R1832:Map3k5	UTSW	10	19,975,306 (GRCm39)	missense	probably damaging	1.00
R1844:Map3k5	UTSW	10	19,979,909 (GRCm39)	missense	probably benign	0.33
R1869:Map3k5	UTSW	10	20,007,855 (GRCm39)	nonsense	probably null
R2156:Map3k5	UTSW	10	19,900,683 (GRCm39)	missense	probably damaging	1.00
R2214:Map3k5	UTSW	10	19,902,035 (GRCm39)	critical splice donor site	probably null
R2221:Map3k5	UTSW	10	19,943,666 (GRCm39)	missense	possibly damaging	0.96
R2223:Map3k5	UTSW	10	19,943,666 (GRCm39)	missense	possibly damaging	0.96
R2249:Map3k5	UTSW	10	20,003,443 (GRCm39)	missense	probably damaging	0.99
R2418:Map3k5	UTSW	10	19,986,603 (GRCm39)	missense	probably benign	0.02
R2513:Map3k5	UTSW	10	19,970,201 (GRCm39)	missense	possibly damaging	0.92
R3014:Map3k5	UTSW	10	19,970,175 (GRCm39)	missense	probably damaging	1.00
R3770:Map3k5	UTSW	10	19,900,765 (GRCm39)	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20,016,426 (GRCm39)	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	19,901,936 (GRCm39)	missense	probably damaging	0.99
R4706:Map3k5	UTSW	10	19,934,684 (GRCm39)	missense	probably damaging	1.00
R4749:Map3k5	UTSW	10	20,007,798 (GRCm39)	missense	probably benign	0.42
R4903:Map3k5	UTSW	10	19,994,235 (GRCm39)	missense	probably null	1.00
R4958:Map3k5	UTSW	10	19,899,535 (GRCm39)	missense	possibly damaging	0.79
R5065:Map3k5	UTSW	10	19,958,213 (GRCm39)	missense	probably damaging	1.00
R5210:Map3k5	UTSW	10	19,900,647 (GRCm39)	missense	possibly damaging	0.82
R5245:Map3k5	UTSW	10	20,016,437 (GRCm39)	missense	probably benign	0.00
R5304:Map3k5	UTSW	10	19,983,984 (GRCm39)	missense	probably benign	0.13
R5428:Map3k5	UTSW	10	19,899,399 (GRCm39)	missense	possibly damaging	0.93
R5914:Map3k5	UTSW	10	19,980,001 (GRCm39)	missense	probably benign	0.24
R6155:Map3k5	UTSW	10	19,994,187 (GRCm39)	missense	probably benign	0.01
R6161:Map3k5	UTSW	10	19,876,321 (GRCm39)	missense	probably damaging	0.98
R6191:Map3k5	UTSW	10	19,899,415 (GRCm39)	missense	probably damaging	0.99
R6251:Map3k5	UTSW	10	20,014,006 (GRCm39)	splice site	probably null
R6800:Map3k5	UTSW	10	20,017,326 (GRCm39)	makesense	probably null
R7304:Map3k5	UTSW	10	19,975,301 (GRCm39)	missense	probably damaging	1.00
R7722:Map3k5	UTSW	10	20,007,891 (GRCm39)	missense	probably benign	0.04
R8058:Map3k5	UTSW	10	20,007,860 (GRCm39)	missense	probably damaging	0.99
R8207:Map3k5	UTSW	10	19,986,612 (GRCm39)	frame shift	probably null
R8827:Map3k5	UTSW	10	19,902,003 (GRCm39)	missense	probably damaging	0.98
R8977:Map3k5	UTSW	10	19,955,000 (GRCm39)	missense	possibly damaging	0.88
R9490:Map3k5	UTSW	10	20,007,797 (GRCm39)	missense	probably benign
R9570:Map3k5	UTSW	10	19,876,314 (GRCm39)	missense	probably benign	0.02
R9784:Map3k5	UTSW	10	19,810,812 (GRCm39)	missense	probably damaging	1.00
RF024:Map3k5	UTSW	10	19,975,918 (GRCm39)	missense	probably damaging	1.00
X0017:Map3k5	UTSW	10	19,994,180 (GRCm39)	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