Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Map3k7'

30790

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

038583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31964097-32023467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31985731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 218 (I218N)

Ref Sequence

ENSEMBL: ENSMUSP00000103819 (fasta)

Gene Model

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

AlphaFold

Q62073

Predicted Effect

probably damaging
Transcript: ENSMUST00000037607
AA Change: I218N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: I218N

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 damaging
Transcript: ENSMUST00000080933
AA Change: I218N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: I218N

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 damaging
Transcript: ENSMUST00000108183
AA Change: I218N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284
AA Change: I218N

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 damaging
Transcript: ENSMUST00000108184
AA Change: I218N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284
AA Change: I218N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147462

Meta Mutation Damage Score

0.9619

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	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
IGL02796:Map3k7	UTSW	4	31,979,692 (GRCm39)	intron	probably benign
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'- GCAGGAAGACCAGTGCATCTTGTTG -3'
(R):5'- AGTCTAAGTTCTCCCCACAGGACC -3'

Sequencing Primer
(F):5'- GACCAGTGCATCTTGTTGAAAAAG -3'
(R):5'- CTTCAGTATCAGATACACATGGTCTC -3'

Posted On

2013-04-24