Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Map3k6'

60613

Institutional Source

Beutler Lab

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MAPKKK6, MEKK6

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R0110 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133243794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030677]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030677
AA Change: L273P

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

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: L273P

Domain	Start	End	E-Value	Type
low complexity region	98	109	N/A	INTRINSIC
Pfam:DUF4071	130	508	2.3e-150	PFAM
S_TKc	649	907	3.49e-87	SMART
low complexity region	925	940	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC
low complexity region	975	990	N/A	INTRINSIC
low complexity region	1130	1146	N/A	INTRINSIC
coiled coil region	1164	1195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127681

Meta Mutation Damage Score

0.5718

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,853,506 (GRCm38)		probably benign	Het
Abcg3	A	G	5: 104,977,616 (GRCm38)	I67T	probably damaging	Het
Adam10	T	A	9: 70,748,248 (GRCm38)	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232 (GRCm38)	R5627*	probably null	Het
AI606181	A	C	19: 41,593,731 (GRCm38)	K113N	unknown	Het
Alms1	A	T	6: 85,620,369 (GRCm38)	R1195*	probably null	Het
Ankrd11	T	C	8: 122,892,175 (GRCm38)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,542,240 (GRCm38)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,127,715 (GRCm38)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,275,891 (GRCm38)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,596,151 (GRCm38)	D42E	probably damaging	Het
Ccdc110	T	A	8: 45,935,157 (GRCm38)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,059,224 (GRCm38)	V905F	probably benign	Het
Cdhr1	T	C	14: 37,080,676 (GRCm38)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,827,005 (GRCm38)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351 (GRCm38)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,096,757 (GRCm38)	T1095I	probably damaging	Het
Cog2	T	C	8: 124,529,058 (GRCm38)		probably null	Het
Col11a1	A	T	3: 114,105,456 (GRCm38)		probably benign	Het
Cpe	T	A	8: 64,611,467 (GRCm38)	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,569,080 (GRCm38)	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972 (GRCm38)		probably null	Het
Dnah12	A	G	14: 26,798,899 (GRCm38)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,621,312 (GRCm38)		probably benign	Het
Dync1h1	C	A	12: 110,639,944 (GRCm38)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,776,781 (GRCm38)	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763 (GRCm38)	T22A	probably benign	Het
Fam227b	T	A	2: 126,100,921 (GRCm38)	S319C	probably damaging	Het
Fam83a	C	A	15: 58,009,926 (GRCm38)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,492,826 (GRCm38)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 94,009,497 (GRCm38)	P388L	probably benign	Het
Ggn	C	T	7: 29,171,296 (GRCm38)	P47S	probably damaging	Het
Gli3	T	G	13: 15,724,785 (GRCm38)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,974,245 (GRCm38)	T120N	probably benign	Het
Gmip	C	T	8: 69,815,609 (GRCm38)		probably benign	Het
Gpr39	C	T	1: 125,677,500 (GRCm38)	T55M	probably damaging	Het
Grk4	A	G	5: 34,716,213 (GRCm38)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,246,127 (GRCm38)		probably benign	Het
Gucy2e	T	C	11: 69,235,576 (GRCm38)	D326G	probably benign	Het
Hadhb	T	C	5: 30,169,485 (GRCm38)		probably benign	Het
Hectd4	G	A	5: 121,305,673 (GRCm38)	E1319K	possibly damaging	Het
Hectd4	T	A	5: 121,281,896 (GRCm38)	Y635N	possibly damaging	Het
Ikbkb	A	T	8: 22,671,635 (GRCm38)	C412*	probably null	Het
Itpa	A	T	2: 130,679,418 (GRCm38)		probably benign	Het
Klhl10	A	G	11: 100,456,932 (GRCm38)	T605A	probably benign	Het
Krt74	T	C	15: 101,763,316 (GRCm38)		noncoding transcript	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,495,290 (GRCm38)		probably benign	Het
Lrrc10	T	A	10: 117,045,790 (GRCm38)	L123Q	probably damaging	Het
Mbl1	A	G	14: 41,158,749 (GRCm38)	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337 (GRCm38)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,470,926 (GRCm38)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm38)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,238,542 (GRCm38)		probably benign	Het
Msto1	A	G	3: 88,911,541 (GRCm38)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,358,114 (GRCm38)	E1149K	possibly damaging	Het
Naca	C	T	10: 128,044,790 (GRCm38)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,693,147 (GRCm38)		probably benign	Het
Neb	A	T	2: 52,290,743 (GRCm38)		probably benign	Het
Or5p5	T	C	7: 107,814,688 (GRCm38)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,171,265 (GRCm38)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,217,728 (GRCm38)	V124I	possibly damaging	Het
Parp2	T	A	14: 50,819,673 (GRCm38)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796 (GRCm38)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976 (GRCm38)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,657,831 (GRCm38)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053 (GRCm38)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm38)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,647 (GRCm38)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,607,982 (GRCm38)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,734,217 (GRCm38)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,978,801 (GRCm38)		probably benign	Het
Proc	G	A	18: 32,125,118 (GRCm38)	T258I	probably benign	Het
Prom2	T	G	2: 127,531,113 (GRCm38)	S679R	possibly damaging	Het
Psen2	T	C	1: 180,238,914 (GRCm38)	T153A	probably damaging	Het
Rem2	T	C	14: 54,476,297 (GRCm38)		probably benign	Het
Rin2	A	G	2: 145,861,033 (GRCm38)	K550E	probably benign	Het
Rtn4	T	A	11: 29,733,849 (GRCm38)		probably benign	Het
Semp2l1	T	A	1: 32,545,875 (GRCm38)	N318I	possibly damaging	Het
Ssh1	A	T	5: 113,946,705 (GRCm38)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548 (GRCm38)		probably null	Het
Stam2	A	T	2: 52,719,986 (GRCm38)		probably benign	Het
Syne1	A	G	10: 5,367,600 (GRCm38)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960 (GRCm38)		probably null	Het
Taf6l	G	T	19: 8,778,521 (GRCm38)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,847,332 (GRCm38)	V64A	probably benign	Het
Tnnc1	A	G	14: 31,211,408 (GRCm38)	D149G	probably damaging	Het
Tpp2	T	A	1: 43,978,504 (GRCm38)	V756E	probably benign	Het
Tpp2	A	G	1: 43,999,693 (GRCm38)	D1133G	probably damaging	Het
Traf3ip3	T	A	1: 193,178,231 (GRCm38)		probably null	Het
Tsen15	A	G	1: 152,371,797 (GRCm38)	V148A	probably damaging	Het
Ttn	T	A	2: 76,864,328 (GRCm38)		probably benign	Het
Ube2u	A	G	4: 100,486,673 (GRCm38)	I90V	probably benign	Het
Unc79	T	A	12: 103,079,070 (GRCm38)		probably null	Het
Usp47	T	C	7: 112,056,580 (GRCm38)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,018,111 (GRCm38)		probably benign	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zfp423	A	G	8: 87,782,259 (GRCm38)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,919,733 (GRCm38)	Q318L	probably benign	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Map3k6	APN	4	133,243,044 (GRCm38)	splice site	probably benign
IGL01060:Map3k6	APN	4	133,247,302 (GRCm38)	splice site	probably null
IGL01116:Map3k6	APN	4	133,247,128 (GRCm38)	missense	probably damaging	0.98
IGL01341:Map3k6	APN	4	133,248,060 (GRCm38)	missense	possibly damaging	0.67
IGL02383:Map3k6	APN	4	133,246,621 (GRCm38)	splice site	probably null
IGL03090:Map3k6	APN	4	133,243,366 (GRCm38)	missense	probably benign	0.05
IGL03096:Map3k6	APN	4	133,251,345 (GRCm38)	nonsense	probably null
IGL03149:Map3k6	APN	4	133,249,688 (GRCm38)	missense	probably damaging	1.00
R0142:Map3k6	UTSW	4	133,250,946 (GRCm38)	missense	probably benign
R0189:Map3k6	UTSW	4	133,246,941 (GRCm38)	missense	possibly damaging	0.46
R0368:Map3k6	UTSW	4	133,252,659 (GRCm38)	missense	probably benign	0.23
R0417:Map3k6	UTSW	4	133,248,082 (GRCm38)	nonsense	probably null
R0595:Map3k6	UTSW	4	133,241,263 (GRCm38)	missense	probably damaging	0.98
R0597:Map3k6	UTSW	4	133,245,552 (GRCm38)	missense	possibly damaging	0.46
R0699:Map3k6	UTSW	4	133,248,126 (GRCm38)	missense	probably damaging	1.00
R1099:Map3k6	UTSW	4	133,247,128 (GRCm38)	missense	probably damaging	1.00
R1113:Map3k6	UTSW	4	133,245,815 (GRCm38)	missense	probably damaging	1.00
R1308:Map3k6	UTSW	4	133,245,815 (GRCm38)	missense	probably damaging	1.00
R1607:Map3k6	UTSW	4	133,252,473 (GRCm38)	missense	probably damaging	1.00
R2217:Map3k6	UTSW	4	133,246,672 (GRCm38)	missense	possibly damaging	0.46
R3734:Map3k6	UTSW	4	133,248,396 (GRCm38)	missense	possibly damaging	0.79
R3735:Map3k6	UTSW	4	133,246,372 (GRCm38)	missense	probably benign	0.21
R3743:Map3k6	UTSW	4	133,245,073 (GRCm38)	missense	probably benign	0.26
R4244:Map3k6	UTSW	4	133,251,947 (GRCm38)	missense	possibly damaging	0.65
R4245:Map3k6	UTSW	4	133,251,947 (GRCm38)	missense	possibly damaging	0.65
R4465:Map3k6	UTSW	4	133,246,333 (GRCm38)	missense	possibly damaging	0.66
R4482:Map3k6	UTSW	4	133,243,399 (GRCm38)	missense	probably benign	0.00
R4827:Map3k6	UTSW	4	133,248,849 (GRCm38)	missense	possibly damaging	0.92
R5092:Map3k6	UTSW	4	133,251,743 (GRCm38)	missense	probably benign	0.00
R5110:Map3k6	UTSW	4	133,247,548 (GRCm38)	intron	probably benign
R5258:Map3k6	UTSW	4	133,247,642 (GRCm38)	missense	possibly damaging	0.81
R5369:Map3k6	UTSW	4	133,247,681 (GRCm38)	missense	probably damaging	0.99
R5642:Map3k6	UTSW	4	133,245,544 (GRCm38)	missense	probably damaging	0.99
R5648:Map3k6	UTSW	4	133,243,335 (GRCm38)	missense	probably benign	0.25
R6102:Map3k6	UTSW	4	133,247,131 (GRCm38)	critical splice donor site	probably null
R6144:Map3k6	UTSW	4	133,245,675 (GRCm38)	missense	probably damaging	1.00
R6476:Map3k6	UTSW	4	133,250,086 (GRCm38)	missense	probably damaging	0.98
R6511:Map3k6	UTSW	4	133,248,078 (GRCm38)	missense	probably damaging	0.98
R6522:Map3k6	UTSW	4	133,250,024 (GRCm38)	missense	possibly damaging	0.65
R6706:Map3k6	UTSW	4	133,250,939 (GRCm38)	nonsense	probably null
R6874:Map3k6	UTSW	4	133,250,656 (GRCm38)	missense	probably benign	0.02
R7069:Map3k6	UTSW	4	133,251,712 (GRCm38)	missense	probably benign	0.01
R7216:Map3k6	UTSW	4	133,246,900 (GRCm38)	missense	probably damaging	0.99
R7417:Map3k6	UTSW	4	133,248,396 (GRCm38)	missense	probably benign	0.43
R7538:Map3k6	UTSW	4	133,251,927 (GRCm38)	missense	probably benign
R7569:Map3k6	UTSW	4	133,250,077 (GRCm38)	missense	probably benign	0.04
R8003:Map3k6	UTSW	4	133,248,882 (GRCm38)	missense	probably benign	0.05
R8407:Map3k6	UTSW	4	133,247,593 (GRCm38)	missense	possibly damaging	0.95
R8817:Map3k6	UTSW	4	133,246,760 (GRCm38)	missense	probably benign	0.00
R8939:Map3k6	UTSW	4	133,252,643 (GRCm38)	unclassified	probably benign
R9285:Map3k6	UTSW	4	133,245,559 (GRCm38)	missense	probably damaging	1.00
R9308:Map3k6	UTSW	4	133,243,411 (GRCm38)	missense	probably damaging	1.00
R9400:Map3k6	UTSW	4	133,241,156 (GRCm38)	missense	probably damaging	1.00
R9401:Map3k6	UTSW	4	133,241,156 (GRCm38)	missense	probably damaging	1.00
R9573:Map3k6	UTSW	4	133,252,463 (GRCm38)	missense	probably damaging	0.99
R9677:Map3k6	UTSW	4	133,241,116 (GRCm38)	missense	probably benign	0.04
R9682:Map3k6	UTSW	4	133,248,108 (GRCm38)	missense	possibly damaging	0.61
R9745:Map3k6	UTSW	4	133,252,472 (GRCm38)	missense	probably damaging	1.00
R9751:Map3k6	UTSW	4	133,251,857 (GRCm38)	critical splice acceptor site	probably null
Z1088:Map3k6	UTSW	4	133,245,066 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGTAAAGTGTGCTGGGGCTG -3'
(R):5'- CCCTGTGAGGCAATGACCACATC -3'

Sequencing Primer
(F):5'- Atctctctctctctctctctctctc -3'
(R):5'- agaaggcagaaacaggtgg -3'

Posted On

2013-07-24