Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02053:Plekha6'

185144

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: 0.147) question?

Stock #

IGL02053

Quality Score

Status

Chromosome

Chromosomal Location

133091948-133231173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133200230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 270 (N270D)

Ref Sequence

ENSEMBL: ENSMUSP00000140558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285] [ENSMUST00000212252]

AlphaFold

Q7TQG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038295
AA Change: N270D

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

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: N270D

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 damaging
Transcript: ENSMUST00000105082
AA Change: N290D

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

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: N290D

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 damaging
Transcript: ENSMUST00000186917
AA Change: N290D

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

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: N290D

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 damaging
Transcript: ENSMUST00000187285
AA Change: N270D

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

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: N270D

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 benign
Transcript: ENSMUST00000189598

Predicted Effect

unknown
Transcript: ENSMUST00000190186
AA Change: N92D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190694

Predicted Effect

probably benign
Transcript: ENSMUST00000212252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,058 (GRCm39)	S918P	possibly damaging	Het
AY358078	G	T	14: 52,043,009 (GRCm39)	E232D	unknown	Het
Baz1b	C	A	5: 135,271,320 (GRCm39)	P1301Q	probably benign	Het
Btn2a2	T	C	13: 23,662,990 (GRCm39)	D311G	probably damaging	Het
Cept1	A	T	3: 106,440,712 (GRCm39)	L149Q	probably damaging	Het
Clec2m	T	C	6: 129,303,725 (GRCm39)	Q80R	probably benign	Het
Col6a4	T	A	9: 105,940,294 (GRCm39)	D1212V	possibly damaging	Het
Cyp2j8	T	C	4: 96,358,891 (GRCm39)	I343V	probably damaging	Het
Dapk2	A	G	9: 66,128,027 (GRCm39)	I102V	probably benign	Het
Dntt	A	G	19: 41,034,713 (GRCm39)	T321A	probably benign	Het
Entrep2	C	T	7: 64,469,590 (GRCm39)	G53R	probably damaging	Het
Ezh1	T	C	11: 101,090,769 (GRCm39)		probably benign	Het
Fbxw5	T	C	2: 25,393,453 (GRCm39)	V18A	probably damaging	Het
Fgd5	T	A	6: 92,030,225 (GRCm39)	C1109S	probably benign	Het
Ms4a6c	A	G	19: 11,455,586 (GRCm39)	I132V	probably benign	Het
Ncoa3	T	C	2: 165,896,754 (GRCm39)	L515P	probably damaging	Het
Nfic	A	G	10: 81,256,385 (GRCm39)	V115A	probably damaging	Het
P4ha2	A	G	11: 54,008,413 (GRCm39)	T207A	probably benign	Het
Pde10a	G	T	17: 9,193,601 (GRCm39)	V732L	probably damaging	Het
Pfas	A	T	11: 68,883,779 (GRCm39)	L626Q	probably damaging	Het
Prdm10	T	C	9: 31,272,144 (GRCm39)	S977P	probably benign	Het
Ptprm	A	G	17: 67,000,836 (GRCm39)	L1073P	probably damaging	Het
Rai14	A	C	15: 10,633,242 (GRCm39)	H49Q	probably benign	Het
Ros1	T	A	10: 52,038,816 (GRCm39)	I394F	probably damaging	Het
Sec14l1	C	T	11: 117,047,738 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,550,413 (GRCm39)	I151V	probably benign	Het
Tet2	T	A	3: 133,194,284 (GRCm39)	N50I	possibly damaging	Het
Tubal3	A	C	13: 3,983,159 (GRCm39)	D313A	probably damaging	Het
Usp45	A	G	4: 21,824,553 (GRCm39)	N483S	probably benign	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Plekha6	APN	1	133,209,903 (GRCm39)	missense	possibly damaging	0.92
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
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

2014-05-07