Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Plekha6'

228009

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

MMRRC Submission

040134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 133279365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285]

AlphaFold

Q7TQG1

Predicted Effect

probably null
Transcript: ENSMUST00000038295

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757

Domain	Start	End	E-Value	Type
PH	60	160	2.23e-20	SMART
low complexity region	217	231	N/A	INTRINSIC
low complexity region	353	367	N/A	INTRINSIC
Blast:PH	506	576	6e-31	BLAST
coiled coil region	613	686	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
low complexity region	1139	1153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105082

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757

Domain	Start	End	E-Value	Type
PH	60	180	1.24e-18	SMART
low complexity region	237	251	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
coiled coil region	559	632	N/A	INTRINSIC
low complexity region	707	728	N/A	INTRINSIC
low complexity region	1035	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186917

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757

Domain	Start	End	E-Value	Type
PH	60	180	1.24e-18	SMART
low complexity region	237	251	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
coiled coil region	559	632	N/A	INTRINSIC
low complexity region	707	728	N/A	INTRINSIC
low complexity region	1035	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187285

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757

Domain	Start	End	E-Value	Type
PH	60	160	9.6e-23	SMART
low complexity region	217	231	N/A	INTRINSIC
low complexity region	353	367	N/A	INTRINSIC
coiled coil region	539	612	N/A	INTRINSIC
low complexity region	687	708	N/A	INTRINSIC
low complexity region	1014	1028	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187299

Predicted Effect

probably null
Transcript: ENSMUST00000189598

Predicted Effect

probably benign
Transcript: ENSMUST00000190186

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149 (GRCm38)	C656S	probably benign	Het
4931408C20Rik	T	C	1: 26,685,854 (GRCm38)	R82G	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575 (GRCm38)	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260 (GRCm38)	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,432,808 (GRCm38)	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,578,594 (GRCm38)	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,890,488 (GRCm38)	I71V	probably damaging	Het
Adra1a	A	T	14: 66,727,532 (GRCm38)	I324F	possibly damaging	Het
Akap13	G	T	7: 75,611,434 (GRCm38)	A1269S	probably benign	Het
Ampd1	G	T	3: 103,094,878 (GRCm38)		probably null	Het
Ankrd16	T	A	2: 11,783,695 (GRCm38)	D211E	probably damaging	Het
Aox3	A	G	1: 58,169,843 (GRCm38)	H845R	probably damaging	Het
Apc	C	A	18: 34,312,045 (GRCm38)	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,677,958 (GRCm38)	N747S	probably damaging	Het
Arsk	A	T	13: 76,091,812 (GRCm38)	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726 (GRCm38)	F1001I	probably benign	Het
Bap1	T	A	14: 31,258,331 (GRCm38)	Y645*	probably null	Het
Brca2	A	G	5: 150,557,129 (GRCm38)	Y2760C	probably damaging	Het
Cad	T	A	5: 31,058,072 (GRCm38)	F76I	probably damaging	Het
Capn9	G	A	8: 124,605,711 (GRCm38)	G430R	possibly damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,036,306 (GRCm38)		probably benign	Het
Cdkn2c	A	C	4: 109,665,063 (GRCm38)	N28K	probably null	Het
Celsr1	T	A	15: 85,963,223 (GRCm38)	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,831,155 (GRCm38)	R52S	probably benign	Het
Cldn1	G	C	16: 26,371,550 (GRCm38)	A26G	probably damaging	Het
Col20a1	T	A	2: 180,992,573 (GRCm38)	F110L	probably damaging	Het
Creg2	T	C	1: 39,624,978 (GRCm38)	N204S	probably benign	Het
Cx3cl1	C	A	8: 94,779,573 (GRCm38)	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,286,131 (GRCm38)	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,820,710 (GRCm38)	I456F	probably damaging	Het
Dapk1	A	G	13: 60,729,531 (GRCm38)	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,761,667 (GRCm38)	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,539,124 (GRCm38)	D16E	probably damaging	Het
Depdc5	T	A	5: 32,990,781 (GRCm38)	L1469*	probably null	Het
Dnah3	T	A	7: 119,967,759 (GRCm38)	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,854,311 (GRCm38)	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,674,568 (GRCm38)	V77A	probably benign	Het
Eps15l1	A	T	8: 72,386,868 (GRCm38)	V260D	probably benign	Het
Eya1	A	G	1: 14,170,974 (GRCm38)	V573A	probably benign	Het
Fam171b	T	A	2: 83,879,858 (GRCm38)	S625T	probably damaging	Het
Fam186a	T	C	15: 99,933,676 (GRCm38)		probably benign	Het
Fam208a	A	G	14: 27,476,614 (GRCm38)	N1301S	possibly damaging	Het
Gabra4	G	T	5: 71,641,224 (GRCm38)	D137E	probably benign	Het
Gatsl2	G	A	5: 134,136,153 (GRCm38)	C187Y	probably damaging	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Gm43302	T	C	5: 105,274,744 (GRCm38)	D474G	probably damaging	Het
Golim4	A	T	3: 75,908,149 (GRCm38)	V116D	probably damaging	Het
Gpr19	T	C	6: 134,870,442 (GRCm38)	M1V	probably null	Het
Hnf4a	T	A	2: 163,547,418 (GRCm38)	N29K	probably benign	Het
Htt	A	G	5: 34,877,109 (GRCm38)	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Il4i1	G	A	7: 44,840,070 (GRCm38)	V420M	probably damaging	Het
Insrr	G	A	3: 87,810,572 (GRCm38)		probably null	Het
Ipo9	A	G	1: 135,402,250 (GRCm38)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268 (GRCm38)		probably benign	Het
Jmjd4	A	T	11: 59,454,955 (GRCm38)	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,386,534 (GRCm38)	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483 (GRCm38)	L1228P	probably benign	Het
Klra3	A	G	6: 130,335,775 (GRCm38)	S9P	probably benign	Het
Ldhd	C	T	8: 111,628,537 (GRCm38)		probably null	Het
Lmo2	T	C	2: 103,981,062 (GRCm38)	Y147H	probably damaging	Het
Lmo7	A	T	14: 101,900,238 (GRCm38)	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,174,988 (GRCm38)	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,622,708 (GRCm38)	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,715,581 (GRCm38)	F453I	possibly damaging	Het
Magel2	A	T	7: 62,377,738 (GRCm38)	H130L	unknown	Het
Mcpt8	T	C	14: 56,082,283 (GRCm38)	I237V	probably damaging	Het
Med4	A	G	14: 73,517,996 (GRCm38)	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,885 (GRCm38)	L269F	probably damaging	Het
Mib2	C	T	4: 155,655,238 (GRCm38)		probably null	Het
Mki67	T	A	7: 135,704,241 (GRCm38)		probably null	Het
Mnx1	T	A	5: 29,474,189 (GRCm38)	S299C	unknown	Het
Nbr1	T	A	11: 101,566,191 (GRCm38)		probably null	Het
Ncapd3	T	G	9: 27,083,346 (GRCm38)	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,733,681 (GRCm38)		probably null	Het
Olfml3	T	A	3: 103,735,869 (GRCm38)	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047 (GRCm38)	S28P	possibly damaging	Het
Olfr775	T	C	10: 129,251,074 (GRCm38)	F180S	probably benign	Het
Oosp1	T	C	19: 11,690,950 (GRCm38)	D23G	probably damaging	Het
Optc	A	T	1: 133,903,796 (GRCm38)		probably null	Het
Osbpl6	T	A	2: 76,586,214 (GRCm38)	I546K	probably damaging	Het
Otog	A	T	7: 46,250,100 (GRCm38)	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,447,870 (GRCm38)	Q10K	probably benign	Het
Pcx	T	C	19: 4,602,551 (GRCm38)	F189L	probably benign	Het
Pde6b	A	G	5: 108,428,203 (GRCm38)	D718G	probably damaging	Het
Pklr	C	A	3: 89,142,660 (GRCm38)	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,325,667 (GRCm38)	Y460*	probably null	Het
Plekho1	A	G	3: 95,989,117 (GRCm38)	S347P	probably damaging	Het
Plxna2	G	A	1: 194,644,750 (GRCm38)	D331N	probably benign	Het
Prelp	C	T	1: 133,915,131 (GRCm38)	R92K	probably benign	Het
Prkra	A	T	2: 76,647,136 (GRCm38)	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,172,026 (GRCm38)	A31V	probably damaging	Het
Pzp	T	C	6: 128,491,161 (GRCm38)		probably null	Het
Rbm12	A	T	2: 156,095,510 (GRCm38)	C947*	probably null	Het
Ren1	C	G	1: 133,350,778 (GRCm38)		probably null	Het
Sarm1	A	T	11: 78,475,307 (GRCm38)	C649S	probably benign	Het
Sept12	T	A	16: 4,991,779 (GRCm38)	Q223L	probably damaging	Het
Sept4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,979,733 (GRCm38)	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246 (GRCm38)		probably null	Het
Slc9a4	T	G	1: 40,607,741 (GRCm38)		probably null	Het
Sort1	T	A	3: 108,351,686 (GRCm38)	F678Y	probably benign	Het
Spag6	T	A	2: 18,733,097 (GRCm38)	C259*	probably null	Het
Stard13	T	C	5: 151,045,168 (GRCm38)	Y879C	probably damaging	Het
Stk24	A	T	14: 121,302,211 (GRCm38)	I191N	probably damaging	Het
Tacc1	A	T	8: 25,164,493 (GRCm38)	N271K	probably damaging	Het
Tacc2	T	A	7: 130,621,857 (GRCm38)	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,932,180 (GRCm38)	V366A	probably benign	Het
Tbccd1	A	G	16: 22,841,989 (GRCm38)	S26P	probably benign	Het
Tecpr1	T	A	5: 144,208,645 (GRCm38)	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054 (GRCm38)	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 156,065,349 (GRCm38)	Y467C	probably damaging	Het
Trove2	T	C	1: 143,760,034 (GRCm38)	D458G	probably benign	Het
Ttc9b	T	A	7: 27,654,349 (GRCm38)		probably null	Het
Tti1	T	C	2: 158,000,743 (GRCm38)	R789G	probably benign	Het
Ttn	A	T	2: 76,832,217 (GRCm38)		probably null	Het
Txk	T	A	5: 72,696,579 (GRCm38)	T472S	probably damaging	Het
Ube2cbp	A	T	9: 86,372,487 (GRCm38)		probably null	Het
Vav2	C	A	2: 27,299,396 (GRCm38)	R176L	possibly damaging	Het
Wdr27	T	A	17: 14,928,332 (GRCm38)	D133V	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605 (GRCm38)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644 (GRCm38)	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,442,661 (GRCm38)	S38A	probably damaging	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Plekha6	APN	1	133,282,165 (GRCm38)	missense	possibly damaging	0.92
IGL01328:Plekha6	APN	1	133,272,336 (GRCm38)	splice site	probably null
IGL01739:Plekha6	APN	1	133,260,131 (GRCm38)	missense	probably benign	0.38
IGL01803:Plekha6	APN	1	133,272,414 (GRCm38)	nonsense	probably null
IGL02053:Plekha6	APN	1	133,272,492 (GRCm38)	missense	probably damaging	1.00
IGL02269:Plekha6	APN	1	133,287,849 (GRCm38)	missense	possibly damaging	0.82
IGL02276:Plekha6	APN	1	133,293,861 (GRCm38)	missense	possibly damaging	0.93
IGL02478:Plekha6	APN	1	133,283,293 (GRCm38)	missense	probably benign	0.03
IGL02754:Plekha6	APN	1	133,284,938 (GRCm38)	missense	probably damaging	0.98
G1Funyon:Plekha6	UTSW	1	133,264,687 (GRCm38)	missense	probably damaging	0.96
R0100:Plekha6	UTSW	1	133,270,177 (GRCm38)	missense	probably damaging	0.99
R0334:Plekha6	UTSW	1	133,282,180 (GRCm38)	missense	probably benign	0.24
R0470:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	probably benign	0.07
R1016:Plekha6	UTSW	1	133,260,094 (GRCm38)	missense	probably benign	0.00
R1254:Plekha6	UTSW	1	133,272,589 (GRCm38)	missense	probably benign	0.10
R1728:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1729:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1730:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1739:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1762:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1771:Plekha6	UTSW	1	133,273,913 (GRCm38)	missense	probably benign	0.00
R1783:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1784:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1785:Plekha6	UTSW	1	133,287,846 (GRCm38)	missense	probably benign
R1786:Plekha6	UTSW	1	133,279,365 (GRCm38)	splice site	probably null
R1997:Plekha6	UTSW	1	133,263,818 (GRCm38)	missense	probably benign	0.43
R2020:Plekha6	UTSW	1	133,284,970 (GRCm38)	missense	possibly damaging	0.55
R2130:Plekha6	UTSW	1	133,279,365 (GRCm38)	splice site	probably null
R2133:Plekha6	UTSW	1	133,279,365 (GRCm38)	splice site	probably null
R2992:Plekha6	UTSW	1	133,294,658 (GRCm38)	missense	probably damaging	1.00
R3781:Plekha6	UTSW	1	133,294,655 (GRCm38)	missense	probably damaging	1.00
R3810:Plekha6	UTSW	1	133,273,979 (GRCm38)	missense	probably benign
R4067:Plekha6	UTSW	1	133,294,678 (GRCm38)	missense	probably benign	0.40
R4725:Plekha6	UTSW	1	133,283,320 (GRCm38)	missense	probably damaging	1.00
R5657:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5658:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5746:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5768:Plekha6	UTSW	1	133,280,378 (GRCm38)	missense	probably benign	0.01
R5785:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5892:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5937:Plekha6	UTSW	1	133,260,101 (GRCm38)	missense	possibly damaging	0.89
R5985:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R5986:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R6053:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R6072:Plekha6	UTSW	1	133,272,307 (GRCm38)	missense	possibly damaging	0.94
R6167:Plekha6	UTSW	1	133,279,407 (GRCm38)	missense	probably null	0.96
R6843:Plekha6	UTSW	1	133,274,878 (GRCm38)	missense	probably damaging	1.00
R6879:Plekha6	UTSW	1	133,260,055 (GRCm38)	missense	possibly damaging	0.95
R6912:Plekha6	UTSW	1	133,272,535 (GRCm38)	missense	probably benign	0.02
R6970:Plekha6	UTSW	1	133,263,818 (GRCm38)	missense	probably benign	0.43
R7041:Plekha6	UTSW	1	133,272,460 (GRCm38)	missense	possibly damaging	0.93
R7248:Plekha6	UTSW	1	133,275,848 (GRCm38)	nonsense	probably null
R7400:Plekha6	UTSW	1	133,274,024 (GRCm38)	nonsense	probably null
R7720:Plekha6	UTSW	1	133,293,707 (GRCm38)	missense	probably damaging	1.00
R7772:Plekha6	UTSW	1	133,170,022 (GRCm38)	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133,263,806 (GRCm38)	missense	probably benign
R8301:Plekha6	UTSW	1	133,264,687 (GRCm38)	missense	probably damaging	0.96
R8387:Plekha6	UTSW	1	133,292,155 (GRCm38)	splice site	probably null
R8465:Plekha6	UTSW	1	133,270,040 (GRCm38)	missense	probably damaging	0.98
R8501:Plekha6	UTSW	1	133,287,837 (GRCm38)	missense	probably benign	0.34
R9025:Plekha6	UTSW	1	133,285,261 (GRCm38)	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133,273,950 (GRCm38)	missense	possibly damaging	0.95
R9044:Plekha6	UTSW	1	133,273,949 (GRCm38)	missense	probably benign	0.01
R9165:Plekha6	UTSW	1	133,272,637 (GRCm38)	missense	probably damaging	1.00
R9179:Plekha6	UTSW	1	133,286,347 (GRCm38)	missense	possibly damaging	0.90
R9186:Plekha6	UTSW	1	133,292,433 (GRCm38)	missense	probably damaging	1.00
R9188:Plekha6	UTSW	1	133,292,433 (GRCm38)	missense	probably damaging	1.00
R9321:Plekha6	UTSW	1	133,281,811 (GRCm38)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,272,471 (GRCm38)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,263,813 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAACAGTTCACAGGGTG -3'
(R):5'- CTGTCTTACAGGAGATGAGGC -3'

Sequencing Primer
(F):5'- TCACAGGGTGAAAAGTGGC -3'
(R):5'- ATTGGGTGAGGCAGGCC -3'

Posted On

2014-09-17