Mutagenetix > Incidental Mutation

Incidental Mutation 'R6349:Map3k7'

512423

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

044503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31964097-32023467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31988661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 270 (D270G)

Ref Sequence

ENSEMBL: ENSMUSP00000103819 (fasta)

Gene Model

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

AlphaFold

Q62073

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037607
AA Change: D270G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: D270G

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

possibly damaging
Transcript: ENSMUST00000080933
AA Change: D270G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: D270G

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

possibly damaging
Transcript: ENSMUST00000108183
AA Change: D270G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284
AA Change: D270G

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

possibly damaging
Transcript: ENSMUST00000108184
AA Change: D270G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284
AA Change: D270G

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: ENSMUST00000131310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143138

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012A03Rik	A	G	6: 32,028,595 (GRCm39)	Y9C	probably benign	Het
4930433I11Rik	A	C	7: 40,644,196 (GRCm39)	M622L	possibly damaging	Het
Abca8b	C	T	11: 109,825,544 (GRCm39)		probably null	Het
Adam28	T	C	14: 68,870,621 (GRCm39)	I351V	probably benign	Het
Adgrd1	A	C	5: 129,219,603 (GRCm39)		probably null	Het
Ank3	T	A	10: 69,815,269 (GRCm39)	I473N	probably damaging	Het
Ankrd6	A	T	4: 32,822,231 (GRCm39)	H179Q	probably damaging	Het
Ano6	A	G	15: 95,863,903 (GRCm39)	R808G	probably damaging	Het
Anxa8	A	T	14: 33,819,850 (GRCm39)	I280F	probably damaging	Het
Asb2	C	T	12: 103,312,118 (GRCm39)	M1I	probably null	Het
Astn1	C	T	1: 158,491,691 (GRCm39)	Q1023*	probably null	Het
Cast	T	A	13: 74,869,314 (GRCm39)	E542D	probably damaging	Het
Ccdc162	C	T	10: 41,570,396 (GRCm39)	E30K	probably damaging	Het
Ccdc87	T	C	19: 4,891,347 (GRCm39)	V613A	probably damaging	Het
Cdk13	T	C	13: 17,926,304 (GRCm39)	N832S	probably damaging	Het
Celsr1	T	A	15: 85,915,885 (GRCm39)	N696I	probably damaging	Het
Chd3	T	C	11: 69,254,857 (GRCm39)	E161G	possibly damaging	Het
Cxcr4	C	A	1: 128,517,014 (GRCm39)	V216F	possibly damaging	Het
Cyp4a10	A	G	4: 115,382,555 (GRCm39)	I282V	probably benign	Het
Deaf1	T	C	7: 140,902,863 (GRCm39)	T154A	possibly damaging	Het
Dido1	A	T	2: 180,302,494 (GRCm39)	D1803E	probably benign	Het
Dmxl2	T	C	9: 54,327,193 (GRCm39)	D944G	possibly damaging	Het
Dnah5	G	A	15: 28,238,657 (GRCm39)	V400M	probably damaging	Het
Fbxo15	A	G	18: 84,982,267 (GRCm39)	I240V	probably benign	Het
Fcrl2	A	G	3: 87,159,803 (GRCm39)	C484R	probably damaging	Het
Fech	G	T	18: 64,603,856 (GRCm39)	Y164*	probably null	Het
Fer1l5	T	A	1: 36,450,355 (GRCm39)	W1175R	probably damaging	Het
Fgfrl1	T	C	5: 108,853,372 (GRCm39)	Y241H	probably damaging	Het
Flvcr2	T	C	12: 85,793,974 (GRCm39)	Y117H	probably benign	Het
Fsip2	T	A	2: 82,823,416 (GRCm39)	M6383K	probably benign	Het
Gcc2	T	A	10: 58,105,296 (GRCm39)	D141E	probably benign	Het
Glt1d1	A	C	5: 127,783,950 (GRCm39)	R301S	probably benign	Het
Hars1	G	C	18: 36,916,107 (GRCm39)	A16G	probably benign	Het
Hmcn2	G	T	2: 31,278,385 (GRCm39)	G1696C	probably damaging	Het
Hydin	T	A	8: 111,145,091 (GRCm39)	L814*	probably null	Het
Izumo4	T	A	10: 80,538,551 (GRCm39)	M1K	probably null	Het
Kdm5d	T	A	Y: 916,847 (GRCm39)	M414K	probably damaging	Homo
Kif21b	G	A	1: 136,086,064 (GRCm39)	V812I	probably damaging	Het
Mical3	A	G	6: 120,936,486 (GRCm39)	S1347P	probably benign	Het
Mras	T	A	9: 99,276,669 (GRCm39)	D67V	probably damaging	Het
Mtnr1b	A	T	9: 15,774,509 (GRCm39)	Y183*	probably null	Het
Muc16	A	T	9: 18,568,625 (GRCm39)	L1298Q	unknown	Het
Myh2	A	T	11: 67,083,829 (GRCm39)	I1536F	probably benign	Het
Or7c19	T	C	8: 85,957,787 (GRCm39)	I221T	possibly damaging	Het
Osmr	G	T	15: 6,850,544 (GRCm39)	D686E	probably benign	Het
Pah	T	A	10: 87,414,831 (GRCm39)	D394E	probably benign	Het
Pla1a	T	A	16: 38,237,486 (GRCm39)	S71C	probably benign	Het
Proc	T	A	18: 32,266,486 (GRCm39)	I114L	probably benign	Het
Psd	T	G	19: 46,301,826 (GRCm39)		probably null	Het
Psmb6	C	T	11: 70,418,364 (GRCm39)	Q226*	probably null	Het
Rnpepl1	A	T	1: 92,847,563 (GRCm39)	N717Y	probably damaging	Het
Rundc1	T	C	11: 101,324,988 (GRCm39)	S565P	probably benign	Het
Serpinb5	T	A	1: 106,809,495 (GRCm39)	S300R	probably benign	Het
Serpinf2	T	C	11: 75,323,257 (GRCm39)	D483G	probably damaging	Het
Sgsm3	T	C	15: 80,892,547 (GRCm39)	I291T	probably benign	Het
Smg6	T	A	11: 74,944,600 (GRCm39)	D116E	possibly damaging	Het
Srfbp1	G	T	18: 52,622,034 (GRCm39)	S365I	probably benign	Het
Stkld1	A	G	2: 26,835,872 (GRCm39)	T236A	probably benign	Het
Susd5	T	C	9: 113,924,870 (GRCm39)	V251A	probably benign	Het
Tcf25	A	G	8: 124,118,332 (GRCm39)	Y314C	probably damaging	Het
Tmem210	A	G	2: 25,179,048 (GRCm39)	D112G	possibly damaging	Het
Tubb2b	A	G	13: 34,311,528 (GRCm39)	Y422H	probably damaging	Het
Tyw1	T	C	5: 130,305,872 (GRCm39)	S332P	possibly damaging	Het
Vmn1r29	A	C	6: 58,284,412 (GRCm39)	Q44P	probably damaging	Het
Vrtn	T	C	12: 84,695,792 (GRCm39)	S181P	probably damaging	Het
Wdr76	T	A	2: 121,364,712 (GRCm39)	Y437N	possibly damaging	Het
Zc3h18	C	A	8: 123,135,025 (GRCm39)		probably benign	Het
Zfp287	G	T	11: 62,616,168 (GRCm39)	D174E	probably damaging	Het
Zfp800	A	T	6: 28,244,601 (GRCm39)	Y121*	probably null	Het
Zfyve19	T	A	2: 119,041,078 (GRCm39)	L57Q	probably 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
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
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'- ACCATGTGCTACAGACTGC -3'
(R):5'- ACGCCTACTCTAACTTGAGTAAC -3'

Sequencing Primer
(F):5'- CCATGTGCTACAGACTGCAGTATAAG -3'
(R):5'- GCCTACTCTAACTTGAGTAACACTGG -3'

Posted On

2018-04-27