Mutagenetix > Incidental Mutation

Incidental Mutation 'R7233:Map4k3'

562667

Institutional Source

Beutler Lab

Gene Symbol

Map4k3

Ensembl Gene

ENSMUSG00000024242

Gene Name

mitogen-activated protein kinase kinase kinase kinase 3

Synonyms

9530052P13Rik

MMRRC Submission

045343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80887941-81035914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80905077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 738 (V738A)

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: V738A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: V738A

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: V738A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: V738A

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

Meta Mutation Damage Score

0.7381

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,762,641 (GRCm39)	K505R	probably benign	Het
Arhgap24	A	G	5: 103,026,367 (GRCm39)	K263E	probably benign	Het
Ark2n	C	A	18: 77,722,882 (GRCm39)	V385F	probably damaging	Het
Armc2	A	T	10: 41,799,800 (GRCm39)	V686D	probably damaging	Het
Bhmt	T	A	13: 93,758,025 (GRCm39)	K229*	probably null	Het
Birc2	A	T	9: 7,827,009 (GRCm39)	C326S	probably damaging	Het
Blzf1	A	T	1: 164,123,512 (GRCm39)		probably null	Het
Camsap3	T	A	8: 3,650,371 (GRCm39)	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2h	T	A	8: 105,744,088 (GRCm39)	C279S	probably damaging	Het
Cfap44	T	A	16: 44,242,771 (GRCm39)	L725Q	probably damaging	Het
Cibar2	A	G	8: 120,898,661 (GRCm39)	L131P	probably damaging	Het
Clip1	T	C	5: 123,749,922 (GRCm39)	E987G	probably damaging	Het
Cog1	G	T	11: 113,540,556 (GRCm39)	R57L	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnttip2	T	C	3: 122,070,039 (GRCm39)	V418A	probably benign	Het
Dop1a	G	A	9: 86,403,749 (GRCm39)	A186T	probably benign	Het
Efcab3	T	C	11: 104,730,669 (GRCm39)	S1966P	possibly damaging	Het
Engase	T	A	11: 118,373,827 (GRCm39)	V323E	probably damaging	Het
Farsb	A	G	1: 78,447,718 (GRCm39)		probably null	Het
Fpr2	G	T	17: 18,113,766 (GRCm39)	W254L	probably damaging	Het
Frmd3	A	C	4: 73,932,023 (GRCm39)	H6P	probably benign	Het
Fscn1	C	T	5: 142,956,029 (GRCm39)	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267 (GRCm39)	I344N	probably benign	Het
Gfra4	A	T	2: 130,883,037 (GRCm39)	V194E	probably damaging	Het
Golgb1	T	C	16: 36,735,120 (GRCm39)	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,897,873 (GRCm39)	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,587,332 (GRCm39)	S68P	probably benign	Het
Lama2	A	T	10: 27,107,659 (GRCm39)	C784S	probably damaging	Het
Lars2	G	T	9: 123,241,019 (GRCm39)	G229*	probably null	Het
Lats2	A	T	14: 57,960,151 (GRCm39)		probably null	Het
Lgr6	A	C	1: 134,928,214 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,430,930 (GRCm39)	I373N	probably damaging	Het
Maml2	A	T	9: 13,532,067 (GRCm39)	H427L		Het
Mansc1	A	G	6: 134,598,806 (GRCm39)	V37A	probably damaging	Het
Mastl	A	G	2: 23,023,670 (GRCm39)	I351T	probably benign	Het
Mcmdc2	T	G	1: 10,002,408 (GRCm39)		probably null	Het
Mrgprd	A	G	7: 144,875,672 (GRCm39)	D181G	possibly damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Msra	T	C	14: 64,360,714 (GRCm39)	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307 (GRCm39)	E759G	possibly damaging	Het
Nab1	T	C	1: 52,498,378 (GRCm39)	*487W	probably null	Het
Or2z9	A	G	8: 72,853,900 (GRCm39)	T99A	probably benign	Het
Or5p66	T	A	7: 107,885,923 (GRCm39)	T137S	probably benign	Het
Pkdrej	A	G	15: 85,705,349 (GRCm39)	S196P	probably damaging	Het
Pln	A	G	10: 53,220,008 (GRCm39)	T17A	probably damaging	Het
Polrmt	A	T	10: 79,581,619 (GRCm39)		probably null	Het
Ppp1r14a	T	A	7: 28,988,949 (GRCm39)	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804 (GRCm39)	H959L	probably benign	Het
Pramel42	A	T	5: 94,685,524 (GRCm39)	M395L	probably benign	Het
Prmt7	A	G	8: 106,946,642 (GRCm39)	T75A	probably damaging	Het
Prom1	T	C	5: 44,194,816 (GRCm39)	S319G	possibly damaging	Het
Prtg	G	A	9: 72,819,273 (GRCm39)	G1089S	probably benign	Het
Ptprd	T	C	4: 75,978,020 (GRCm39)	D596G	probably benign	Het
Rbm12	C	T	2: 155,937,894 (GRCm39)	G793S	unknown	Het
Rora	A	T	9: 69,104,804 (GRCm39)	R43*	probably null	Het
Sez6	T	C	11: 77,863,963 (GRCm39)	Y482H	probably damaging	Het
Skint2	A	T	4: 112,483,122 (GRCm39)	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,259,445 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,089,044 (GRCm39)	V606A	possibly damaging	Het
Spa17	T	C	9: 37,514,587 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,252,160 (GRCm39)	L2498R	probably damaging	Het
Synpo2	T	G	3: 122,911,333 (GRCm39)	H104P	probably benign	Het
Tapbp	G	T	17: 34,138,943 (GRCm39)	A46S	probably damaging	Het
Tbc1d30	C	A	10: 121,107,962 (GRCm39)	R480L	probably benign	Het
Tshz1	T	C	18: 84,032,944 (GRCm39)	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,956,908 (GRCm39)	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,221,116 (GRCm39)	D145V	probably damaging	Het
Zfp318	T	A	17: 46,716,978 (GRCm39)	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,704,524 (GRCm39)	Q238*	probably null	Het
Zfp874a	A	G	13: 67,590,776 (GRCm39)	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,311,918 (GRCm39)	K232E	probably benign	Het
Zfp982	T	A	4: 147,597,718 (GRCm39)	N358K	probably benign	Het
Zmiz1	C	T	14: 25,650,092 (GRCm39)	P417S	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
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
R8745:Map4k3	UTSW	17	80,944,164 (GRCm39)	missense	possibly damaging	0.85
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'- TTTTCTTGCTAGGACATATGGAGC -3'
(R):5'- TGCACAGCTCTAAGGTCCTG -3'

Sequencing Primer
(F):5'- TTGCTAGGACATATGGAGCACACAC -3'
(R):5'- AGTCTTGAGAGCAGAAGCCTCTC -3'

Posted On

2019-06-26