Mutagenetix > Incidental Mutations

Incidental Mutation 'R4895:Plekha7'

434672

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

042499-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116123485-116308376 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 116189391 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000183057] [ENSMUST00000216517]

Predicted Effect

probably benign
Transcript: ENSMUST00000084664

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
Blast:PH	1	47	2e-23	BLAST
SCOP:d1kz7a2	18	69	1e-5	SMART
low complexity region	100	112	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	322	351	N/A	INTRINSIC
coiled coil region	461	500	N/A	INTRINSIC
coiled coil region	529	562	N/A	INTRINSIC
low complexity region	677	693	N/A	INTRINSIC
coiled coil region	828	856	N/A	INTRINSIC
low complexity region	947	959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181981

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
PH	59	178	1.42e-18	SMART
low complexity region	231	243	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	453	482	N/A	INTRINSIC
coiled coil region	592	631	N/A	INTRINSIC
coiled coil region	660	693	N/A	INTRINSIC
low complexity region	808	824	N/A	INTRINSIC
coiled coil region	959	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181998

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC
low complexity region	1183	1195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182443

Predicted Effect

probably benign
Transcript: ENSMUST00000182487

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182511

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
PH	102	221	1.42e-18	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	496	525	N/A	INTRINSIC
coiled coil region	635	674	N/A	INTRINSIC
coiled coil region	703	736	N/A	INTRINSIC
low complexity region	851	867	N/A	INTRINSIC
coiled coil region	1002	1030	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182693

Predicted Effect

probably benign
Transcript: ENSMUST00000182834

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
PH	118	237	1.42e-18	SMART
low complexity region	290	302	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
low complexity region	512	541	N/A	INTRINSIC
coiled coil region	651	690	N/A	INTRINSIC
coiled coil region	719	752	N/A	INTRINSIC
low complexity region	867	883	N/A	INTRINSIC
coiled coil region	1018	1046	N/A	INTRINSIC
low complexity region	1137	1149	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182890

Predicted Effect

probably benign
Transcript: ENSMUST00000183057

SMART Domains

Protein: ENSMUSP00000138490
Gene: ENSMUSG00000045659

Domain	Start	End	E-Value	Type
WW	5	37	7.79e-6	SMART
Pfam:PH	115	174	9.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205446

Predicted Effect

probably benign
Transcript: ENSMUST00000206662

Predicted Effect

probably benign
Transcript: ENSMUST00000216517

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,613,070		probably benign	Het
Abat	G	A	16: 8,615,962	A392T	probably benign	Het
Abca14	G	A	7: 120,247,349		probably null	Het
Abcc6	A	T	7: 45,980,990	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,550,481		probably benign	Het
Adgrf1	G	T	17: 43,310,620	V583L	probably benign	Het
Aftph	T	C	11: 20,696,801	D825G	probably damaging	Het
Ahnak	T	C	19: 9,017,441	V5363A	probably benign	Het
Apba3	G	A	10: 81,271,283		probably null	Het
Asb13	T	C	13: 3,643,589	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,414,369	H223Q	probably benign	Het
Best1	A	G	19: 9,992,771	L159P	probably benign	Het
Cacna1h	A	T	17: 25,389,422	M731K	probably damaging	Het
Catspere1	T	A	1: 177,859,861		noncoding transcript	Het
Cenpv	A	T	11: 62,527,520	Y202*	probably null	Het
Cep57	A	T	9: 13,816,153		probably benign	Het
Cfap100	T	A	6: 90,406,102	D363V	possibly damaging	Het
Cluh	A	G	11: 74,667,405	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,663,110		probably null	Het
Dnajc11	T	C	4: 151,979,933	F514L	probably damaging	Het
Efcab3	T	A	11: 105,117,401		probably benign	Het
Eif2b4	T	G	5: 31,192,954	Q8P	probably benign	Het
Epha6	A	T	16: 59,666,555	V1043E	probably benign	Het
Gm11562	G	T	11: 99,620,315	Q20K	unknown	Het
Gm11639	C	T	11: 104,720,286	T318I	probably benign	Het
Gm11639	A	G	11: 104,749,670	D1026G	probably damaging	Het
Gm13762	A	T	2: 88,973,711	F60Y	probably benign	Het
Gm14415	A	T	2: 177,104,321		noncoding transcript	Het
Gm5431	A	G	11: 48,889,028	S634P	probably damaging	Het
Gpld1	C	A	13: 24,979,728	N501K	probably damaging	Het
Gsn	C	T	2: 35,302,578	R513C	probably damaging	Het
Gulp1	T	C	1: 44,788,597	F300L	probably benign	Het
H2afj	T	C	6: 136,808,662	V108A	possibly damaging	Het
Haus3	T	C	5: 34,168,070	R82G	probably benign	Het
Herc2	G	A	7: 56,222,986	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,677,379	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,465,253	I53V	probably benign	Het
Inpp5e	C	T	2: 26,397,912	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367	C491*	probably null	Het
Itpkb	C	A	1: 180,413,895	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,928,416		probably null	Het
Kmt2d	T	C	15: 98,844,487		probably benign	Het
Lamb3	C	T	1: 193,332,314	R594*	probably null	Het
Map3k20	A	G	2: 72,402,356		probably benign	Het
Maz	A	T	7: 127,025,300		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Nbeal1	A	G	1: 60,292,903	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,469,896	Y61H	probably damaging	Het
Npat	T	A	9: 53,570,489	L1166M	probably damaging	Het
Olfr1112	A	C	2: 87,191,848	I54L	probably benign	Het
Olfr1447	C	T	19: 12,900,887	V298M	probably damaging	Het
Olfr190	C	T	16: 59,074,657	C141Y	probably benign	Het
Olfr490	A	C	7: 108,286,595	I177S	probably damaging	Het
Olfr988	A	T	2: 85,352,997	*310K	probably null	Het
Pcdhb3	T	C	18: 37,301,706	F242L	probably damaging	Het
Phip	A	G	9: 82,959,595	V57A	probably benign	Het
Pot1a	A	C	6: 25,753,206	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,784,352	P217L	probably damaging	Het
Prepl	A	G	17: 85,081,066	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,575,530	I175V	probably benign	Het
Ranbp6	A	T	19: 29,809,775	I1059N	possibly damaging	Het
Rhag	A	G	17: 40,811,351	Q59R	probably benign	Het
Sema4c	A	C	1: 36,553,570		probably null	Het
Sf3b3	T	C	8: 110,816,024	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,198,857		probably null	Het
Tbrg1	A	T	9: 37,655,079	I54N	probably damaging	Het
Tchh	A	T	3: 93,445,686	E811V	unknown	Het
Tenm3	T	A	8: 48,300,971	D799V	probably damaging	Het
Tlr5	T	C	1: 182,974,199	L342P	probably damaging	Het
Tppp	C	T	13: 74,030,877	R146*	probably null	Het
Trpm4	A	T	7: 45,318,058	M574K	probably damaging	Het
Uggt1	A	T	1: 36,156,264	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,018,886	K1124N	probably damaging	Het
Usf3	A	C	16: 44,221,096	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,318,961	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,259,761	H650N	probably benign	Het
Vmn2r59	T	A	7: 42,045,794	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,537,972	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,826,435	R235*	probably null	Het

Other mutations in Plekha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Plekha7	APN	7	116135184	missense	probably damaging	1.00
IGL01133:Plekha7	APN	7	116145241	splice site	probably null
IGL01146:Plekha7	APN	7	116157473	splice site	probably benign
IGL01307:Plekha7	APN	7	116145244	splice site	probably benign
IGL02063:Plekha7	APN	7	116140701	missense	possibly damaging	0.78
IGL02110:Plekha7	APN	7	116154628	splice site	probably null
IGL02420:Plekha7	APN	7	116158234	missense	probably damaging	1.00
IGL02660:Plekha7	APN	7	116157574	splice site	probably benign
IGL02851:Plekha7	APN	7	116135178	missense	probably damaging	1.00
R0066:Plekha7	UTSW	7	116157508	missense	probably damaging	1.00
R0066:Plekha7	UTSW	7	116157508	missense	probably damaging	1.00
R0130:Plekha7	UTSW	7	116170704	missense	probably damaging	0.99
R0348:Plekha7	UTSW	7	116158020	missense	probably damaging	1.00
R0595:Plekha7	UTSW	7	116144968	missense	probably damaging	1.00
R0614:Plekha7	UTSW	7	116154645	nonsense	probably null
R0732:Plekha7	UTSW	7	116145237	missense	probably damaging	1.00
R1664:Plekha7	UTSW	7	116135034	splice site	probably null
R1695:Plekha7	UTSW	7	116128685	missense	probably damaging	1.00
R1794:Plekha7	UTSW	7	116140681	missense	probably damaging	1.00
R1895:Plekha7	UTSW	7	116144974	missense	probably damaging	1.00
R2153:Plekha7	UTSW	7	116175767	missense	probably damaging	1.00
R3106:Plekha7	UTSW	7	116164404	missense	probably benign	0.02
R3605:Plekha7	UTSW	7	116164242	missense	possibly damaging	0.68
R3606:Plekha7	UTSW	7	116164242	missense	possibly damaging	0.68
R3789:Plekha7	UTSW	7	116175734	missense	probably damaging	1.00
R4584:Plekha7	UTSW	7	116237533	intron	probably benign
R4750:Plekha7	UTSW	7	116137311	missense	probably damaging	1.00
R4774:Plekha7	UTSW	7	116144943	missense	probably damaging	1.00
R4810:Plekha7	UTSW	7	116144938	missense	probably damaging	1.00
R4925:Plekha7	UTSW	7	116158128	missense	probably damaging	1.00
R5556:Plekha7	UTSW	7	116164149	missense	probably benign	0.20
R5599:Plekha7	UTSW	7	116176882	splice site	probably null
R5848:Plekha7	UTSW	7	116140399	missense	probably damaging	1.00
R5928:Plekha7	UTSW	7	116128574	missense	probably benign
R5941:Plekha7	UTSW	7	116124805	missense	possibly damaging	0.56
R6351:Plekha7	UTSW	7	116176898	missense	probably damaging	1.00
R6520:Plekha7	UTSW	7	116164482	missense	probably benign	0.16
R6699:Plekha7	UTSW	7	116135175	missense	probably damaging	1.00
R6781:Plekha7	UTSW	7	116157855	critical splice donor site	probably null
R6843:Plekha7	UTSW	7	116143320	missense	probably benign	0.45
R6977:Plekha7	UTSW	7	116135967	missense	probably benign	0.01
R7048:Plekha7	UTSW	7	116148324	missense	probably benign	0.07
R7269:Plekha7	UTSW	7	116181212	missense	probably damaging	1.00
R7480:Plekha7	UTSW	7	116137168	splice site	probably null
R7520:Plekha7	UTSW	7	116137284	missense	possibly damaging	0.95
R7609:Plekha7	UTSW	7	116164446	missense	probably benign	0.25
R7680:Plekha7	UTSW	7	116164276	missense	probably benign	0.00
R7820:Plekha7	UTSW	7	116237480	missense	probably benign	0.12
R7989:Plekha7	UTSW	7	116158323	missense	probably benign	0.04
R8383:Plekha7	UTSW	7	116144919	missense	probably damaging	0.98
R8523:Plekha7	UTSW	7	116307929	missense	probably benign	0.01
Z1177:Plekha7	UTSW	7	116140663	missense	probably benign	0.01
Z1177:Plekha7	UTSW	7	116307971	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTCAAACTCTGCCTGAC -3'
(R):5'- CCTTCATGTTTCAGTGTATTGGAAC -3'

Sequencing Primer
(F):5'- TCCCGCAGAACGTATTCA -3'
(R):5'- CTAGTCTACACTGAAGTTCCAGGG -3'

Posted On

2016-10-24