Mutagenetix > Incidental Mutations

Incidental Mutation 'R1895:Plekha7'

209746

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

MMRRC Submission

039915-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116123485-116308376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116144974 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 764 (E764G)

Ref Sequence

ENSEMBL: ENSMUSP00000148936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000183281] [ENSMUST00000216517]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084664
AA Change: E461G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: E461G

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 damaging
Transcript: ENSMUST00000181981
AA Change: E592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: E592G

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 damaging
Transcript: ENSMUST00000181998
AA Change: E697G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: E697G

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

unknown
Transcript: ENSMUST00000182443
AA Change: E615G

Predicted Effect

probably damaging
Transcript: ENSMUST00000182487
AA Change: E697G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: E697G

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 damaging
Transcript: ENSMUST00000182511
AA Change: E635G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: E635G

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

probably damaging
Transcript: ENSMUST00000182834
AA Change: E651G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: E651G

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

probably damaging
Transcript: ENSMUST00000183281
AA Change: E117G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659
AA Change: E117G

Domain	Start	End	E-Value	Type
coiled coil region	117	156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000216517
AA Change: E764G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1708

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,540,465	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,388,870	I110N	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgef12	G	T	9: 43,005,856	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Cdh8	T	C	8: 99,279,557	T133A	possibly damaging	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,679,108	K749N	unknown	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Dmxl1	G	T	18: 49,955,914		probably null	Het
Dnah10	A	G	5: 124,758,430	D990G	probably benign	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Eif3l	A	G	15: 79,089,477	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fam20a	T	C	11: 109,673,554	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Glmn	T	C	5: 107,570,244	D269G	probably benign	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gpatch4	A	G	3: 88,052,102	Y106C	probably damaging	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Hdac7	T	C	15: 97,796,886	D701G	probably damaging	Het
Hectd2	T	A	19: 36,614,460	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Kdm4b	T	A	17: 56,397,340	V272E	probably damaging	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kif11	G	A	19: 37,387,399	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Muc5b	A	C	7: 141,857,645	T1443P	unknown	Het
Mxi1	G	A	19: 53,370,344	R236H	probably benign	Het
Nav1	A	T	1: 135,458,658	W1211R	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Nxpe5	T	C	5: 138,251,523	V525A	probably damaging	Het
Oas1f	A	T	5: 120,855,585	T287S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Olfr522	T	A	7: 140,162,813	I46F	possibly damaging	Het
Palm2	T	C	4: 57,638,068	V35A	probably benign	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Prob1	T	A	18: 35,652,889	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,631,768		probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,403,894	R249C	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Stil	T	C	4: 115,023,875	S539P	probably benign	Het
Syt4	T	C	18: 31,444,088	K71R	probably damaging	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,407,682	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,013,433	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	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
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
R4895:Plekha7	UTSW	7	116189391	splice site	probably null
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'- GCCTTTGAGGAGCACTTTTAG -3'
(R):5'- ATGTGAGTTGCCAGTGACAGG -3'

Sequencing Primer
(F):5'- AGGGCTTCACACATTAGGC -3'
(R):5'- TGACAGGCCGGCTCCTTG -3'

Posted On

2014-06-30