Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Map3k7'

567817

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

045412-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31964097-32023467 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 31985769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 231 (E231*)

Ref Sequence

ENSEMBL: ENSMUSP00000040307 (fasta)

Gene Model

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

AlphaFold

Q62073

Predicted Effect

probably null
Transcript: ENSMUST00000037607
AA Change: E231*

SMART Domains

Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: E231*

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 null
Transcript: ENSMUST00000080933
AA Change: E231*

SMART Domains

Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: E231*

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 null
Transcript: ENSMUST00000108183
AA Change: E231*

SMART Domains

Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284
AA Change: E231*

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 null
Transcript: ENSMUST00000108184
AA Change: E231*

SMART Domains

Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284
AA Change: E231*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	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
R6349:Map3k7	UTSW	4	31,988,661 (GRCm39)	missense	possibly damaging	0.87
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'- GGCAGTCTCTTCTCCAAAATTC -3'
(R):5'- TAAGTTCTCCCCACAGGACC -3'

Sequencing Primer
(F):5'- AGTCTCTTCTCCAAAATTCCCATTC -3'
(R):5'- TTCTCCCCACAGGACCCAGAG -3'

Posted On

2019-06-26