Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Map4k3'

663522

Institutional Source

Beutler Lab

Gene Symbol

Map4k3

Ensembl Gene

ENSMUSG00000024242

Gene Name

mitogen-activated protein kinase kinase kinase kinase 3

Synonyms

9530052P13Rik

MMRRC Submission

068589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8745 (G1)

Quality Score

185.009

Status

Not validated

Chromosome

Chromosomal Location

80887941-81035914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80944164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 328 (R328C)

Ref Sequence

ENSEMBL: ENSMUSP00000108008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025089] [ENSMUST00000112389]

AlphaFold

Q99JP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025089
AA Change: R328C

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: R328C

Domain	Start	End	E-Value	Type
S_TKc	16	273	9.71e-95	SMART
low complexity region	299	304	N/A	INTRINSIC
low complexity region	413	421	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	467	491	N/A	INTRINSIC
CNH	561	874	2e-115	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112389
AA Change: R328C

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: R328C

Domain	Start	End	E-Value	Type
S_TKc	16	273	9.71e-95	SMART
low complexity region	299	304	N/A	INTRINSIC
low complexity region	413	421	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	467	491	N/A	INTRINSIC
CNH	561	876	1.39e-114	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.5%

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 mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis, decreased stimulated immunoglobin production, decreased stimulated T cell proliferation, and abnormal Th1, Th2, and Th17 differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,611,807 (GRCm39)	N377S	probably benign	Het
Aldh3b3	A	T	19: 4,014,890 (GRCm39)	Y129F	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd61	G	A	5: 143,828,237 (GRCm39)	S246L	possibly damaging	Het
Ccdc187	T	A	2: 26,170,526 (GRCm39)	I651F	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfap58	A	T	19: 47,929,553 (GRCm39)	K5*	probably null	Het
Col27a1	T	C	4: 63,144,153 (GRCm39)	S614P	probably benign	Het
Crlf3	T	A	11: 79,955,100 (GRCm39)	E85D	probably damaging	Het
Dennd2b	T	A	7: 109,156,279 (GRCm39)	H157L	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,221,624 (GRCm39)	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 98,999,345 (GRCm39)	T177A	probably benign	Het
Dytn	A	T	1: 63,686,606 (GRCm39)	C355S	probably benign	Het
Efcab3	C	T	11: 104,749,304 (GRCm39)	T2340M	possibly damaging	Het
Ehbp1	T	C	11: 22,119,064 (GRCm39)	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,215,212 (GRCm39)	I491T	unknown	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fam53a	A	T	5: 33,767,781 (GRCm39)	I43N	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,676,528 (GRCm39)	T568A	probably benign	Het
Gba1	A	T	3: 89,115,180 (GRCm39)	N404I	probably damaging	Het
Gsap	A	G	5: 21,474,949 (GRCm39)	Y536C	probably benign	Het
Hecw2	T	A	1: 53,972,330 (GRCm39)	E230V	probably damaging	Het
Heg1	A	G	16: 33,555,986 (GRCm39)	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,107,445 (GRCm39)	W233*	probably null	Het
Krt88	T	C	15: 101,351,460 (GRCm39)	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,812,137 (GRCm39)	H727Q	probably benign	Het
Man1c1	T	C	4: 134,303,295 (GRCm39)	K400E	probably damaging	Het
Map2	A	T	1: 66,452,556 (GRCm39)	Q482L	probably benign	Het
Map3k1	A	G	13: 111,893,306 (GRCm39)	V733A	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Marchf7	C	T	2: 60,067,153 (GRCm39)	Q558*	probably null	Het
Mepe	T	C	5: 104,485,525 (GRCm39)	S222P	possibly damaging	Het
Mfap3l	A	T	8: 61,124,958 (GRCm39)	N400I	possibly damaging	Het
Myom3	T	C	4: 135,522,509 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,659,311 (GRCm39)	T769A	probably benign	Het
Ndufb7	T	A	8: 84,297,518 (GRCm39)	Y58N	probably damaging	Het
Nup160	T	C	2: 90,530,463 (GRCm39)	F445L	probably benign	Het
Or1e20-ps1	C	A	11: 73,324,848 (GRCm39)	*68L	probably null	Het
Or4c126	T	A	2: 89,824,076 (GRCm39)	M113K	probably damaging	Het
Or4p23	T	C	2: 88,576,408 (GRCm39)	I275V	possibly damaging	Het
Ovch2	G	A	7: 107,389,584 (GRCm39)	S321F	possibly damaging	Het
Pamr1	T	C	2: 102,441,924 (GRCm39)	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,828,974 (GRCm39)	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,039,159 (GRCm39)	S34P	probably benign	Het
Pitrm1	C	T	13: 6,603,238 (GRCm39)	P96L	probably damaging	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,065,244 (GRCm39)	S21P	possibly damaging	Het
Rasgrp2	G	T	19: 6,463,949 (GRCm39)	R549L	probably damaging	Het
Rassf10	T	A	7: 112,554,083 (GRCm39)	L228Q	probably damaging	Het
Rho	A	T	6: 115,912,483 (GRCm39)	I275F	probably damaging	Het
Rrp9	T	C	9: 106,361,657 (GRCm39)	V400A	possibly damaging	Het
Satb2	A	G	1: 57,008,796 (GRCm39)	L62P	unknown	Het
Scmh1	T	A	4: 120,362,559 (GRCm39)	L265*	probably null	Het
Scn7a	A	G	2: 66,510,526 (GRCm39)	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,474,542 (GRCm39)	T235S	probably benign	Het
Serpinb6c	A	G	13: 34,064,702 (GRCm39)	V214A	probably benign	Het
Sf3b3	A	G	8: 111,550,816 (GRCm39)	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Snx5	A	T	2: 144,103,932 (GRCm39)	S22T	probably benign	Het
Spata6	T	C	4: 111,636,476 (GRCm39)	F256L	probably benign	Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Tex9	T	C	9: 72,389,778 (GRCm39)	I111V	probably benign	Het
Tigd4	A	G	3: 84,501,874 (GRCm39)	I264V	probably benign	Het
Tmem182	C	T	1: 40,877,536 (GRCm39)	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,338,745 (GRCm39)	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,773,202 (GRCm39)	F542L		Het
Tpbpa	G	A	13: 61,087,778 (GRCm39)	T86I	possibly damaging	Het
Trappc14	A	G	5: 138,261,327 (GRCm39)		probably null	Het
Ubr5	G	A	15: 38,025,039 (GRCm39)	P573L		Het
Usp54	A	G	14: 20,612,176 (GRCm39)	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,048,767 (GRCm39)	I281V	probably benign	Het
Zfp456	C	A	13: 67,515,373 (GRCm39)	C111F	possibly damaging	Het

Other mutations in Map4k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Map4k3	APN	17	80,944,147 (GRCm39)	critical splice donor site	probably null
IGL01329:Map4k3	APN	17	80,951,613 (GRCm39)	missense	probably benign
IGL01626:Map4k3	APN	17	80,913,238 (GRCm39)	missense	probably damaging	0.97
IGL01896:Map4k3	APN	17	80,921,360 (GRCm39)	missense	probably benign	0.13
IGL02021:Map4k3	APN	17	80,917,255 (GRCm39)	missense	probably damaging	1.00
IGL02585:Map4k3	APN	17	80,961,348 (GRCm39)	splice site	probably benign
IGL03101:Map4k3	APN	17	80,963,284 (GRCm39)	critical splice donor site	probably null
IGL03231:Map4k3	APN	17	80,905,104 (GRCm39)	missense	probably damaging	1.00
IGL03267:Map4k3	APN	17	80,971,457 (GRCm39)	missense	probably damaging	1.00
homelander	UTSW	17	80,909,622 (GRCm39)	missense	probably damaging	1.00
maple_forest	UTSW	17	80,911,427 (GRCm39)	missense	probably benign	0.38
stormfront	UTSW	17	80,944,161 (GRCm39)	missense	probably damaging	1.00
R0084:Map4k3	UTSW	17	80,963,343 (GRCm39)	missense	possibly damaging	0.91
R0211:Map4k3	UTSW	17	80,952,270 (GRCm39)	missense	probably damaging	1.00
R0211:Map4k3	UTSW	17	80,952,270 (GRCm39)	missense	probably damaging	1.00
R0612:Map4k3	UTSW	17	80,909,622 (GRCm39)	missense	probably damaging	1.00
R0842:Map4k3	UTSW	17	80,913,412 (GRCm39)	missense	probably benign	0.35
R2009:Map4k3	UTSW	17	80,971,517 (GRCm39)	splice site	probably benign
R2224:Map4k3	UTSW	17	80,937,883 (GRCm39)	missense	probably benign	0.00
R3851:Map4k3	UTSW	17	80,951,752 (GRCm39)	splice site	probably benign
R4049:Map4k3	UTSW	17	80,913,394 (GRCm39)	missense	probably benign	0.10
R4151:Map4k3	UTSW	17	80,951,963 (GRCm39)	missense	probably damaging	1.00
R4345:Map4k3	UTSW	17	80,904,980 (GRCm39)	critical splice donor site	probably null
R4405:Map4k3	UTSW	17	80,922,444 (GRCm39)	critical splice donor site	probably null
R4450:Map4k3	UTSW	17	80,911,411 (GRCm39)	critical splice donor site	probably null
R4970:Map4k3	UTSW	17	80,961,332 (GRCm39)	missense	probably benign	0.00
R5230:Map4k3	UTSW	17	80,922,599 (GRCm39)	missense	probably benign	0.00
R5459:Map4k3	UTSW	17	80,917,216 (GRCm39)	missense	probably damaging	1.00
R5568:Map4k3	UTSW	17	80,971,427 (GRCm39)	missense	possibly damaging	0.96
R5635:Map4k3	UTSW	17	80,920,924 (GRCm39)	missense	possibly damaging	0.94
R5827:Map4k3	UTSW	17	80,900,712 (GRCm39)	critical splice donor site	probably null
R5927:Map4k3	UTSW	17	80,921,348 (GRCm39)	missense	probably benign	0.06
R5951:Map4k3	UTSW	17	80,911,427 (GRCm39)	missense	probably benign	0.38
R5964:Map4k3	UTSW	17	80,952,191 (GRCm39)	missense	probably damaging	1.00
R6849:Map4k3	UTSW	17	80,937,842 (GRCm39)	critical splice donor site	probably null
R6985:Map4k3	UTSW	17	80,944,161 (GRCm39)	missense	probably damaging	1.00
R7040:Map4k3	UTSW	17	80,988,344 (GRCm39)	missense	probably damaging	0.98
R7233:Map4k3	UTSW	17	80,905,077 (GRCm39)	missense	possibly damaging	0.80
R7511:Map4k3	UTSW	17	80,905,077 (GRCm39)	missense	possibly damaging	0.80
R7672:Map4k3	UTSW	17	80,922,500 (GRCm39)	missense	possibly damaging	0.58
R7680:Map4k3	UTSW	17	80,889,305 (GRCm39)	missense	probably benign	0.02
R7804:Map4k3	UTSW	17	80,922,499 (GRCm39)	missense	probably damaging	0.98
R8170:Map4k3	UTSW	17	80,913,289 (GRCm39)	missense	possibly damaging	0.88
R8397:Map4k3	UTSW	17	80,971,446 (GRCm39)	missense	probably damaging	1.00
R9106:Map4k3	UTSW	17	81,035,257 (GRCm39)	missense	possibly damaging	0.95
R9622:Map4k3	UTSW	17	80,958,538 (GRCm39)	missense	probably damaging	0.99
R9658:Map4k3	UTSW	17	80,961,306 (GRCm39)	missense	probably benign	0.01
X0023:Map4k3	UTSW	17	80,900,520 (GRCm39)	missense	probably benign
Z1176:Map4k3	UTSW	17	80,925,766 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CCCAAAGTTCCAGAGGGATC -3'
(R):5'- TAGTTGGACTGATACTGCGATTAAC -3'

Sequencing Primer
(F):5'- CCAAAGTTCCAGAGGGATCGAGAG -3'
(R):5'- TCTGTAACGAGATCTGACGC -3'

Posted On

2021-03-08