Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02796:Map3k7'

392015

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02796 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

31964097-32023467 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 31979692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103819 (fasta)

Gene Model

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

AlphaFold

Q62073

Predicted Effect

probably benign
Transcript: ENSMUST00000037607

SMART Domains

Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284

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

SMART Domains

Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284

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

SMART Domains

Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284

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

SMART Domains

Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284

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: ENSMUST00000126632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143138

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	T	19: 55,266,601 (GRCm39)	K86*	probably null	Het
Ambp	C	A	4: 63,072,169 (GRCm39)		probably benign	Het
Atp6v0d2	A	T	4: 19,887,324 (GRCm39)	M208K	probably damaging	Het
Brinp1	C	G	4: 68,680,427 (GRCm39)	R701P	probably damaging	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cand1	A	T	10: 119,049,543 (GRCm39)	L401H	probably damaging	Het
Ccdc66	T	C	14: 27,208,523 (GRCm39)	E577G	possibly damaging	Het
Ccdc93	C	A	1: 121,418,895 (GRCm39)	D483E	probably damaging	Het
Cd38	T	C	5: 44,063,555 (GRCm39)	L216P	probably damaging	Het
Cdr1	C	T	X: 60,228,087 (GRCm39)	D360N	possibly damaging	Het
Cibar2	C	T	8: 120,904,138 (GRCm39)		probably benign	Het
Col9a3	G	T	2: 180,255,955 (GRCm39)	D443Y	probably damaging	Het
Cpt1b	C	T	15: 89,309,005 (GRCm39)	V66I	probably benign	Het
Cyp8b1	T	A	9: 121,744,564 (GRCm39)	Y256F	probably benign	Het
Dennd10	A	G	19: 60,806,081 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,757,385 (GRCm39)	N48S	probably benign	Het
Ehd3	T	A	17: 74,123,396 (GRCm39)	L133Q	probably damaging	Het
Eif6	C	A	2: 155,668,068 (GRCm39)	R57L	probably damaging	Het
Fcgbp	T	A	7: 27,800,576 (GRCm39)		probably benign	Het
Fgl1	C	T	8: 41,650,095 (GRCm39)	A229T	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gdf7	A	T	12: 8,351,666 (GRCm39)	S90T	unknown	Het
Ggta1	T	C	2: 35,303,329 (GRCm39)		probably benign	Het
Gm44859	C	T	19: 12,014,112 (GRCm39)		probably benign	Het
Grin2a	T	C	16: 9,402,972 (GRCm39)	E838G	possibly damaging	Het
Grin2c	A	G	11: 115,141,543 (GRCm39)		probably benign	Het
Grm1	T	C	10: 10,565,411 (GRCm39)	T966A	probably benign	Het
Gtpbp1	A	G	15: 79,601,186 (GRCm39)	I468M	possibly damaging	Het
Gucy1b2	G	A	14: 62,645,143 (GRCm39)	P639S	probably benign	Het
Hat1	T	C	2: 71,250,700 (GRCm39)		probably null	Het
Hira	A	T	16: 18,744,404 (GRCm39)	I374F	probably benign	Het
Htt	C	A	5: 35,034,826 (GRCm39)	Q2024K	probably benign	Het
Kcnj6	A	G	16: 94,633,778 (GRCm39)	M111T	probably benign	Het
Loxhd1	T	A	18: 77,456,811 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,642,752 (GRCm39)	M619K	probably benign	Het
Lrrc8b	G	A	5: 105,629,211 (GRCm39)	G519D	probably damaging	Het
Or2ah1	T	C	2: 85,653,933 (GRCm39)	I206T	probably benign	Het
Or4d6	T	A	19: 12,086,248 (GRCm39)	I221F	possibly damaging	Het
P2ry12	T	C	3: 59,125,302 (GRCm39)	I124M	probably damaging	Het
Paxbp1	A	G	16: 90,822,182 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,121,474 (GRCm39)	I257N	probably damaging	Het
Psg27	A	T	7: 18,295,875 (GRCm39)	V190E	probably benign	Het
Rabgap1	T	A	2: 37,362,318 (GRCm39)	N54K	probably damaging	Het
Sacm1l	T	A	9: 123,377,989 (GRCm39)	W90R	possibly damaging	Het
Snrpb2	A	T	2: 142,906,487 (GRCm39)	M1L	probably benign	Het
Spata31d1d	A	G	13: 59,876,057 (GRCm39)	Y493H	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spocd1	A	G	4: 129,841,548 (GRCm39)		probably benign	Het
Tbc1d5	G	T	17: 51,273,652 (GRCm39)	H123Q	probably damaging	Het
Ttn	T	C	2: 76,608,445 (GRCm39)	N17826S	probably damaging	Het
Tubgcp6	A	G	15: 89,006,593 (GRCm39)	I143T	probably benign	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Zfhx4	G	A	3: 5,464,599 (GRCm39)	V1586M	probably damaging	Het
Zfp146	C	T	7: 29,861,983 (GRCm39)	V20I	probably benign	Het
Zfp263	G	A	16: 3,564,740 (GRCm39)	E252K	probably benign	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
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
R1547:Map3k7	UTSW	4	31,991,796 (GRCm39)	missense	probably benign	0.31
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'- CAACCTCATAATGAACAGGATTGC -3'
(R):5'- CCCTGTGAATCAGCGCTTTG -3'

Sequencing Primer
(F):5'- AGTGTGATAGTATGTGCTGA -3'
(R):5'- CGCTTTGGGCTGCATGC -3'

Posted On

2016-06-08