Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Plekha7'

378960

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116123485-116308376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116158128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 529 (F529S)

Ref Sequence

ENSEMBL: ENSMUSP00000148936 (fasta)

Gene Model

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

AlphaFold

Q3UIL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084664
AA Change: F293S

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

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: F293S

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: F424S

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

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: F424S

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: F529S

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

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: F529S

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: F447S

Predicted Effect

probably damaging
Transcript: ENSMUST00000182487
AA Change: F529S

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

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: F529S

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: F467S

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

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: F467S

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: F483S

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

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: F483S

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 benign
Transcript: ENSMUST00000183281

SMART Domains

Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183308

Predicted Effect

probably damaging
Transcript: ENSMUST00000216517
AA Change: F529S

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Crhbp	C	A	13: 95,443,810	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Galnt9	T	C	5: 110,544,739	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,715,968	I399L	probably benign	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,515,489	M6K	probably benign	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Trf	T	C	9: 103,219,246	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	probably benign	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
Plexus	UTSW	7	116148324	missense	probably benign	0.07
R0614_Plekha7_947	UTSW	7	116154645	nonsense	probably null
R4750_Plekha7_499	UTSW	7	116137311	missense	probably damaging	1.00
R4810_Plekha7_997	UTSW	7	116144938	missense	probably damaging	1.00
Rhexis	UTSW	7	116137168	splice site	probably null
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
R4895:Plekha7	UTSW	7	116189391	splice site	probably null
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
R8863:Plekha7	UTSW	7	116154640	missense	probably damaging	1.00
R8920:Plekha7	UTSW	7	116144983	missense	probably benign	0.13
R8926:Plekha7	UTSW	7	116156988	splice site	probably benign
R9176:Plekha7	UTSW	7	116140691	missense	possibly damaging	0.94
R9576:Plekha7	UTSW	7	116129434	missense	possibly damaging	0.91
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'- AGAGATGTCCACACTCCTCC -3'
(R):5'- GAGTCTTCCCAAGAGCACTAGAC -3'

Sequencing Primer
(F):5'- GTGGCTTCACTGTGACCC -3'
(R):5'- AGCACTAGACATCTTTCTGGGAGC -3'

Posted On

2016-04-15