Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Map3k5'

190788

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

039746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19810218-20018499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19986593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 936 (F936L)

Ref Sequence

ENSEMBL: ENSMUSP00000112864 (fasta)

Gene Model

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

AlphaFold

O35099

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095806
AA Change: F944L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: F944L

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

possibly damaging
Transcript: ENSMUST00000120259
AA Change: F936L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: F936L

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

Meta Mutation Damage Score

0.8380

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,964 (GRCm39)	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,159,916 (GRCm39)	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,370,473 (GRCm39)	F44L	probably benign	Het
Ahnak	G	A	19: 8,989,173 (GRCm39)	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,089,345 (GRCm39)		probably null	Het
Anks6	T	A	4: 47,039,726 (GRCm39)	Q495L	probably benign	Het
Arpp21	A	G	9: 111,896,237 (GRCm39)	S684P	probably damaging	Het
Ash1l	A	G	3: 88,983,531 (GRCm39)	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,113,248 (GRCm39)	E70K	probably damaging	Het
Btbd17	G	T	11: 114,686,650 (GRCm39)	P9T	probably benign	Het
C4b	A	G	17: 34,948,245 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,497,785 (GRCm39)	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104 (GRCm39)	D299G	probably damaging	Het
Clca3a1	T	A	3: 144,730,307 (GRCm39)	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691 (GRCm39)	S1204P	unknown	Het
Col24a1	C	T	3: 145,072,624 (GRCm39)	Q780*	probably null	Het
Cxadr	C	A	16: 78,131,133 (GRCm39)	N216K	probably damaging	Het
Daam1	C	T	12: 71,942,656 (GRCm39)	T40I	unknown	Het
Dab2	C	T	15: 6,459,182 (GRCm39)	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,001,139 (GRCm39)	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,663,988 (GRCm39)	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891 (GRCm39)	T1639A	probably benign	Het
Ebf1	A	T	11: 44,815,393 (GRCm39)	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,482,881 (GRCm39)	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,171,906 (GRCm39)	I110T	probably benign	Het
Galk2	A	G	2: 125,773,210 (GRCm39)	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448 (GRCm39)	T806A	probably benign	Het
Impg2	A	G	16: 56,080,889 (GRCm39)	T789A	probably benign	Het
Itga6	A	G	2: 71,617,546 (GRCm39)	T22A	probably benign	Het
Itgb4	T	A	11: 115,894,315 (GRCm39)	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,216,721 (GRCm39)	D160G	probably benign	Het
Kdr	A	G	5: 76,129,127 (GRCm39)	V173A	probably benign	Het
Kif14	T	C	1: 136,455,202 (GRCm39)	S1575P	probably benign	Het
Lcp1	G	A	14: 75,436,884 (GRCm39)		probably null	Het
Lipe	C	A	7: 25,084,750 (GRCm39)	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,272,487 (GRCm39)	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,468,458 (GRCm39)	E1012K	probably benign	Het
Mllt3	A	T	4: 87,701,901 (GRCm39)	N497K	probably damaging	Het
Moxd1	G	A	10: 24,157,394 (GRCm39)	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,985 (GRCm39)	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,522,972 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,886 (GRCm39)	V109A	possibly damaging	Het
Obscn	T	C	11: 58,970,712 (GRCm39)	D2540G	probably damaging	Het
Omg	T	C	11: 79,393,679 (GRCm39)	I60V	probably benign	Het
Or10q12	A	T	19: 13,746,659 (GRCm39)	T318S	probably benign	Het
Or12e9	A	T	2: 87,202,290 (GRCm39)	Y138F	probably damaging	Het
Osbpl5	G	A	7: 143,248,110 (GRCm39)	H652Y	probably damaging	Het
Parvb	T	C	15: 84,182,192 (GRCm39)		probably benign	Het
Pcdhb3	A	C	18: 37,436,375 (GRCm39)	E780D	probably benign	Het
Pik3c3	A	G	18: 30,456,639 (GRCm39)	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,612,958 (GRCm39)	V3172A	probably benign	Het
Psme4	G	T	11: 30,756,310 (GRCm39)	W272L	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,108,601 (GRCm39)	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,108,602 (GRCm39)	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,853,735 (GRCm39)	F413S	probably damaging	Het
Rpn2	A	G	2: 157,156,888 (GRCm39)	N497S	probably damaging	Het
Rsbn1l	G	T	5: 21,156,488 (GRCm39)	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,083,164 (GRCm39)	M246K	probably benign	Het
Sgsm2	T	C	11: 74,787,652 (GRCm39)	E19G	probably null	Het
Shank1	A	G	7: 43,969,161 (GRCm39)	H352R	unknown	Het
Slc17a7	A	G	7: 44,819,728 (GRCm39)	I177V	probably benign	Het
Slc28a2	T	A	2: 122,281,494 (GRCm39)	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc38a1	T	C	15: 96,476,641 (GRCm39)	I407V	probably damaging	Het
Slc39a13	A	G	2: 90,893,442 (GRCm39)	V326A	probably damaging	Het
Slc44a5	T	C	3: 153,944,743 (GRCm39)	L120P	probably damaging	Het
Slfn3	T	C	11: 83,104,140 (GRCm39)	I214T	probably damaging	Het
Slitrk3	A	C	3: 72,957,024 (GRCm39)	S583A	probably benign	Het
Snx14	T	C	9: 88,297,728 (GRCm39)	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,907,538 (GRCm39)	K1483I	probably benign	Het
Ssrp1	C	A	2: 84,871,104 (GRCm39)	H247N	probably damaging	Het
Stk39	A	T	2: 68,137,460 (GRCm39)		probably benign	Het
Syde1	C	T	10: 78,421,530 (GRCm39)	G674R	probably damaging	Het
Tent4a	A	T	13: 69,651,170 (GRCm39)	I565N	probably benign	Het
Themis3	G	A	17: 66,862,848 (GRCm39)	S370L	probably benign	Het
Tll1	T	A	8: 64,554,907 (GRCm39)	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,661,175 (GRCm39)		probably benign	Het
Top2b	T	C	14: 16,409,823 (GRCm38)	V830A	probably benign	Het
Trpm8	T	A	1: 88,292,802 (GRCm39)	N934K	probably damaging	Het
Ttc14	A	G	3: 33,857,069 (GRCm39)	Y179C	probably damaging	Het
Ttn	T	G	2: 76,573,965 (GRCm39)	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,086,871 (GRCm39)	V52A	probably benign	Het
Vamp8	T	A	6: 72,365,270 (GRCm39)	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,306,288 (GRCm39)	H230L	probably benign	Het
Vmn2r50	T	G	7: 9,771,731 (GRCm39)	T657P	probably damaging	Het
Xirp2	G	A	2: 67,342,762 (GRCm39)	G1668R	probably benign	Het
Zik1	C	A	7: 10,224,311 (GRCm39)	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,220,501 (GRCm39)	Y99D	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
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	19,901,936 (GRCm39)	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20,016,426 (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
R5566:Map3k5	UTSW	10	19,986,465 (GRCm39)	missense	probably damaging	1.00
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'- ACATTAGGAGGCTCAGCGTGCATC -3'
(R):5'- AGTTCATTATGGAGGAGGCCCCAG -3'

Sequencing Primer
(F):5'- CAGCGTGCATCTGCTTTTG -3'
(R):5'- CCCCAGCATTTGTGAAATGG -3'

Posted On

2014-05-14