Mutagenetix > Incidental Mutation

Incidental Mutation 'R1547:Map3k7'

172252

Institutional Source

Beutler Lab

Gene Symbol

Map3k7

Ensembl Gene

ENSMUSG00000028284

Gene Name

mitogen-activated protein kinase kinase kinase 7

Synonyms

Tak1, transforming growth factor-beta-activated kinase 1, TAK1, transforming growth factor beta-activated kinase 1, TGF-beta activated kinase 1

MMRRC Submission

039586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31964097-32023467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31991796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 345 (I345V)

Ref Sequence

ENSEMBL: ENSMUSP00000079734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037607] [ENSMUST00000080933] [ENSMUST00000108183] [ENSMUST00000108184]

AlphaFold

Q62073

Predicted Effect

probably benign
Transcript: ENSMUST00000037607
AA Change: I345V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: I345V

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Pkinase_Tyr	36	284	1.2e-61	PFAM
Pfam:Pkinase	36	285	2.8e-56	PFAM
low complexity region	361	375	N/A	INTRINSIC
low complexity region	453	463	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
coiled coil region	528	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080933
AA Change: I345V

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: I345V

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Pkinase_Tyr	36	284	1.7e-61	PFAM
Pfam:Pkinase	36	285	8.4e-58	PFAM
low complexity region	361	375	N/A	INTRINSIC
low complexity region	426	436	N/A	INTRINSIC
low complexity region	457	468	N/A	INTRINSIC
coiled coil region	501	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108183
AA Change: I345V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284
AA Change: I345V

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
S_TKc	36	284	1.6e-63	SMART
low complexity region	361	375	N/A	INTRINSIC
low complexity region	426	436	N/A	INTRINSIC
low complexity region	457	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108184
AA Change: I345V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284
AA Change: I345V

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Pkinase_Tyr	36	284	5.6e-62	PFAM
Pfam:Pkinase	36	285	2.8e-58	PFAM
low complexity region	361	375	N/A	INTRINSIC
low complexity region	453	463	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131310

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis and may have impaired vascular remodeling, edema, or an open, wavy neural tube. Mice with conditional deletion in immune cells show impaired cell development and activation. [provided by MGI curators]

Allele List at MGI

All alleles(62) : Targeted(7) Gene trapped(55)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,403,958 (GRCm39)	V96G	probably damaging	Het
Adam5	G	T	8: 25,300,729 (GRCm39)	Q267K	probably benign	Het
Adamts6	A	G	13: 104,581,383 (GRCm39)	T833A	probably benign	Het
Ago4	C	T	4: 126,405,206 (GRCm39)	E456K	probably benign	Het
Anapc1	T	C	2: 128,459,476 (GRCm39)	Q1861R	probably benign	Het
Apob	A	T	12: 8,053,368 (GRCm39)	D1270V	probably benign	Het
Arb2a	T	C	13: 77,973,509 (GRCm39)		probably null	Het
Arhgef11	T	A	3: 87,602,709 (GRCm39)	I196N	possibly damaging	Het
Armh4	A	T	14: 50,010,953 (GRCm39)	D251E	probably benign	Het
Capzb	G	A	4: 138,989,409 (GRCm39)		probably null	Het
Ccdc183	T	A	2: 25,499,362 (GRCm39)	T466S	probably benign	Het
Cd101	T	C	3: 100,926,267 (GRCm39)	T151A	possibly damaging	Het
Cdc42bpa	A	T	1: 179,902,209 (GRCm39)	I489F	probably damaging	Het
Cetn4	T	C	3: 37,363,600 (GRCm39)	K52R	possibly damaging	Het
Dock6	C	T	9: 21,725,884 (GRCm39)	E1440K	probably damaging	Het
Edem2	A	G	2: 155,564,436 (GRCm39)	F94L	probably damaging	Het
Elp1	C	A	4: 56,792,090 (GRCm39)	R226L	probably damaging	Het
Elp1	C	T	4: 56,798,810 (GRCm39)	V51M	probably damaging	Het
Entrep1	T	C	19: 23,957,065 (GRCm39)	D315G	probably damaging	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Fat2	G	A	11: 55,143,081 (GRCm39)	P4256L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Kif19a	A	G	11: 114,677,398 (GRCm39)	E594G	probably benign	Het
Kifap3	A	G	1: 163,621,655 (GRCm39)	D101G	probably benign	Het
Klhl6	T	C	16: 19,784,832 (GRCm39)	D102G	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lamb2	A	G	9: 108,359,824 (GRCm39)	H388R	probably benign	Het
Lmna	T	C	3: 88,389,658 (GRCm39)	S656G	probably benign	Het
Map3k12	T	A	15: 102,412,287 (GRCm39)	I285F	probably damaging	Het
Mcph1	A	G	8: 18,672,702 (GRCm39)	R111G	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,434 (GRCm39)	V95D	probably damaging	Het
Mogs	T	A	6: 83,093,006 (GRCm39)	M118K	possibly damaging	Het
Npy5r	T	C	8: 67,133,686 (GRCm39)	E369G	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,889 (GRCm39)	F52L	probably damaging	Het
Or10j3	T	A	1: 173,031,239 (GRCm39)	Y105*	probably null	Het
Or2t49	A	G	11: 58,392,651 (GRCm39)	S244P	probably damaging	Het
Or8b12b	A	C	9: 37,683,960 (GRCm39)	T2P	probably benign	Het
Pde7b	C	A	10: 20,310,340 (GRCm39)	L207F	probably damaging	Het
Pigo	A	G	4: 43,020,689 (GRCm39)	V751A	probably benign	Het
Polr2a	T	C	11: 69,625,381 (GRCm39)	Y1923C	probably benign	Het
Prokr2	T	C	2: 132,215,522 (GRCm39)	Y152C	probably damaging	Het
Rab40c	A	G	17: 26,102,724 (GRCm39)	S223P	probably damaging	Het
Recql4	A	C	15: 76,590,511 (GRCm39)	C658G	probably damaging	Het
Sgca	T	C	11: 94,860,259 (GRCm39)	T46A	probably damaging	Het
Slc39a4	G	T	15: 76,498,347 (GRCm39)	C363*	probably null	Het
Snap25	A	T	2: 136,619,389 (GRCm39)	I181F	possibly damaging	Het
Snx32	T	A	19: 5,547,339 (GRCm39)	Q256L	possibly damaging	Het
Soat1	A	G	1: 156,267,331 (GRCm39)	V284A	probably damaging	Het
Sox6	G	A	7: 115,300,957 (GRCm39)	T170M	possibly damaging	Het
Spag16	G	T	1: 69,912,402 (GRCm39)	V246F	possibly damaging	Het
St6galnac6	T	C	2: 32,504,977 (GRCm39)	V141A	possibly damaging	Het
Sult2a7	T	A	7: 14,211,047 (GRCm39)		probably null	Het
Syngr3	A	T	17: 24,906,698 (GRCm39)	V39E	probably damaging	Het
Tango6	A	G	8: 107,508,418 (GRCm39)	T917A	probably damaging	Het
Tas1r1	A	G	4: 152,112,876 (GRCm39)	S726P	probably damaging	Het
Zeb1	C	T	18: 5,767,450 (GRCm39)	R654C	possibly damaging	Het

Other mutations in Map3k7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Map3k7	APN	4	32,019,539 (GRCm39)	missense	probably damaging	1.00
IGL01677:Map3k7	APN	4	32,017,158 (GRCm39)	intron	probably benign
IGL02608:Map3k7	APN	4	31,981,452 (GRCm39)	splice site	probably benign
IGL02796:Map3k7	UTSW	4	31,979,692 (GRCm39)	intron	probably benign
R0377:Map3k7	UTSW	4	31,985,731 (GRCm39)	missense	probably damaging	1.00
R0498:Map3k7	UTSW	4	31,974,814 (GRCm39)	splice site	probably benign
R2360:Map3k7	UTSW	4	31,964,302 (GRCm39)	missense	unknown
R4709:Map3k7	UTSW	4	31,985,700 (GRCm39)	nonsense	probably null
R4815:Map3k7	UTSW	4	31,988,592 (GRCm39)	missense	probably damaging	0.98
R5497:Map3k7	UTSW	4	31,991,719 (GRCm39)	missense	possibly damaging	0.56
R5813:Map3k7	UTSW	4	31,964,318 (GRCm39)	missense	probably damaging	1.00
R6349:Map3k7	UTSW	4	31,988,661 (GRCm39)	missense	possibly damaging	0.87
R7314:Map3k7	UTSW	4	31,985,769 (GRCm39)	nonsense	probably null
R9251:Map3k7	UTSW	4	32,002,080 (GRCm39)	splice site	probably benign
R9765:Map3k7	UTSW	4	32,019,519 (GRCm39)	missense	probably damaging	1.00
X0066:Map3k7	UTSW	4	31,974,848 (GRCm39)	missense	probably damaging	1.00
Z1176:Map3k7	UTSW	4	32,015,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATTCCATCCTCAGAGATCAGAGCC -3'
(R):5'- GGACCCTTAGTTAGAGATGGGTCACAG -3'

Sequencing Primer
(F):5'- tcttccgtcaaactcactcatc -3'
(R):5'- CCACAAGCTTATTTGTCTGGTACAG -3'

Posted On

2014-04-13