Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01098:Plekha6'

50259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL01098

Quality Score

Status

Chromosome

Chromosomal Location

133091948-133231173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133209903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 575 (F575L)

Ref Sequence

ENSEMBL: ENSMUSP00000140558 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038295
AA Change: F649L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: F649L

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

possibly damaging
Transcript: ENSMUST00000105082
AA Change: F595L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: F595L

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

possibly damaging
Transcript: ENSMUST00000186917
AA Change: F595L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: F595L

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

possibly damaging
Transcript: ENSMUST00000187285
AA Change: F575L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: F575L

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

unknown
Transcript: ENSMUST00000189598
AA Change: F84L

Predicted Effect

unknown
Transcript: ENSMUST00000190186
AA Change: F426L

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,315,453 (GRCm39)	D75G	possibly damaging	Het
Brip1	G	T	11: 85,999,688 (GRCm39)	R765S	possibly damaging	Het
Btbd16	T	C	7: 130,424,975 (GRCm39)	I452T	probably damaging	Het
Cdc42ep4	T	G	11: 113,620,328 (GRCm39)	D21A	probably damaging	Het
Cdx2	T	A	5: 147,243,792 (GRCm39)	M1L	possibly damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Csmd2	C	T	4: 127,952,845 (GRCm39)	T98M	probably damaging	Het
Cyp26a1	A	T	19: 37,688,450 (GRCm39)	Q324L	probably benign	Het
Etaa1	A	G	11: 17,896,059 (GRCm39)	V686A	probably damaging	Het
Gpr6	G	A	10: 40,946,739 (GRCm39)	T281I	probably damaging	Het
Herc1	T	A	9: 66,369,204 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,907,108 (GRCm39)	I2351N	possibly damaging	Het
Lman1	A	G	18: 66,124,711 (GRCm39)	F343L	probably damaging	Het
Lmo1	A	G	7: 108,742,657 (GRCm39)		probably benign	Het
Lrrc17	T	A	5: 21,780,269 (GRCm39)	F414L	probably benign	Het
Man2b2	A	T	5: 36,972,900 (GRCm39)	L538Q	probably damaging	Het
Map3k9	A	G	12: 81,770,928 (GRCm39)	S910P	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,191 (GRCm39)	P80S	probably damaging	Het
Mindy4	G	T	6: 55,261,727 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,583,619 (GRCm39)		probably benign	Het
Mta2	A	G	19: 8,924,081 (GRCm39)	D187G	probably damaging	Het
Olfml2a	A	G	2: 38,837,226 (GRCm39)		probably null	Het
Pink1	A	T	4: 138,047,408 (GRCm39)		probably null	Het
Rpe	C	A	1: 66,745,674 (GRCm39)	D71E	probably benign	Het
Slc5a7	C	T	17: 54,599,988 (GRCm39)	A142T	probably benign	Het
Sptbn1	C	T	11: 30,109,385 (GRCm39)	R70K	probably damaging	Het
Taf1c	G	T	8: 120,329,580 (GRCm39)	Q159K	probably damaging	Het
Tgfb1i1	T	C	7: 127,851,693 (GRCm39)	F311S	probably damaging	Het
Tmc8	T	C	11: 117,683,389 (GRCm39)	V648A	possibly damaging	Het
Tmed8	G	T	12: 87,223,445 (GRCm39)	A98E	probably benign	Het
Tmem200a	A	G	10: 25,870,041 (GRCm39)	I76T	probably damaging	Het
Vmn2r104	T	C	17: 20,268,358 (GRCm39)	E37G	probably benign	Het
Vmn2r18	A	T	5: 151,496,296 (GRCm39)	V474E	probably damaging	Het
Vps52	C	T	17: 34,181,704 (GRCm39)	T510I	possibly damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zer1	C	T	2: 29,998,232 (GRCm39)		probably null	Het
Zfp296	A	T	7: 19,311,845 (GRCm39)	K117N	possibly damaging	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Plekha6	APN	1	133,200,074 (GRCm39)	splice site	probably null
IGL01739:Plekha6	APN	1	133,187,869 (GRCm39)	missense	probably benign	0.38
IGL01803:Plekha6	APN	1	133,200,152 (GRCm39)	nonsense	probably null
IGL02053:Plekha6	APN	1	133,200,230 (GRCm39)	missense	probably damaging	1.00
IGL02269:Plekha6	APN	1	133,215,587 (GRCm39)	missense	possibly damaging	0.82
IGL02276:Plekha6	APN	1	133,221,599 (GRCm39)	missense	possibly damaging	0.93
IGL02478:Plekha6	APN	1	133,211,031 (GRCm39)	missense	probably benign	0.03
IGL02754:Plekha6	APN	1	133,212,676 (GRCm39)	missense	probably damaging	0.98
G1Funyon:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R0100:Plekha6	UTSW	1	133,197,915 (GRCm39)	missense	probably damaging	0.99
R0334:Plekha6	UTSW	1	133,209,918 (GRCm39)	missense	probably benign	0.24
R0470:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	probably benign	0.07
R1016:Plekha6	UTSW	1	133,187,832 (GRCm39)	missense	probably benign	0.00
R1254:Plekha6	UTSW	1	133,200,327 (GRCm39)	missense	probably benign	0.10
R1728:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1729:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1730:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1739:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1762:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1771:Plekha6	UTSW	1	133,201,651 (GRCm39)	missense	probably benign	0.00
R1783:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1784:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1785:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1786:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R1997:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R2020:Plekha6	UTSW	1	133,212,708 (GRCm39)	missense	possibly damaging	0.55
R2130:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2131:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2133:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2992:Plekha6	UTSW	1	133,222,396 (GRCm39)	missense	probably damaging	1.00
R3781:Plekha6	UTSW	1	133,222,393 (GRCm39)	missense	probably damaging	1.00
R3810:Plekha6	UTSW	1	133,201,717 (GRCm39)	missense	probably benign
R4067:Plekha6	UTSW	1	133,222,416 (GRCm39)	missense	probably benign	0.40
R4725:Plekha6	UTSW	1	133,211,058 (GRCm39)	missense	probably damaging	1.00
R5657:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5658:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5746:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5768:Plekha6	UTSW	1	133,208,116 (GRCm39)	missense	probably benign	0.01
R5785:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5892:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5937:Plekha6	UTSW	1	133,187,839 (GRCm39)	missense	possibly damaging	0.89
R5985:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5986:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6053:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6072:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6167:Plekha6	UTSW	1	133,207,145 (GRCm39)	missense	probably null	0.96
R6843:Plekha6	UTSW	1	133,202,616 (GRCm39)	missense	probably damaging	1.00
R6879:Plekha6	UTSW	1	133,187,793 (GRCm39)	missense	possibly damaging	0.95
R6912:Plekha6	UTSW	1	133,200,273 (GRCm39)	missense	probably benign	0.02
R6970:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R7041:Plekha6	UTSW	1	133,200,198 (GRCm39)	missense	possibly damaging	0.93
R7248:Plekha6	UTSW	1	133,203,586 (GRCm39)	nonsense	probably null
R7400:Plekha6	UTSW	1	133,201,762 (GRCm39)	nonsense	probably null
R7720:Plekha6	UTSW	1	133,221,445 (GRCm39)	missense	probably damaging	1.00
R7772:Plekha6	UTSW	1	133,097,760 (GRCm39)	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133,191,544 (GRCm39)	missense	probably benign
R8301:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R8387:Plekha6	UTSW	1	133,219,893 (GRCm39)	splice site	probably null
R8465:Plekha6	UTSW	1	133,197,778 (GRCm39)	missense	probably damaging	0.98
R8501:Plekha6	UTSW	1	133,215,575 (GRCm39)	missense	probably benign	0.34
R9025:Plekha6	UTSW	1	133,212,999 (GRCm39)	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133,201,688 (GRCm39)	missense	possibly damaging	0.95
R9044:Plekha6	UTSW	1	133,201,687 (GRCm39)	missense	probably benign	0.01
R9165:Plekha6	UTSW	1	133,200,375 (GRCm39)	missense	probably damaging	1.00
R9179:Plekha6	UTSW	1	133,214,085 (GRCm39)	missense	possibly damaging	0.90
R9186:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9188:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9321:Plekha6	UTSW	1	133,209,549 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,200,209 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,191,551 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21