Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01803:Plekha6'

155578

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 #

IGL01803

Quality Score

Status

Chromosome

Chromosomal Location

133091948-133231173 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 133200152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 66 (E66*)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

probably null
Transcript: ENSMUST00000038295
AA Change: E244*

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: E244*

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 null
Transcript: ENSMUST00000105082
AA Change: E264*

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: E264*

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 null
Transcript: ENSMUST00000186917
AA Change: E264*

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: E264*

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 null
Transcript: ENSMUST00000187285
AA Change: E244*

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: E244*

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 null
Transcript: ENSMUST00000187299

Predicted Effect

probably null
Transcript: ENSMUST00000189598

Predicted Effect

probably null
Transcript: ENSMUST00000190186
AA Change: E66*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191207

Predicted Effect

probably benign
Transcript: ENSMUST00000212252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,085,541 (GRCm39)	L532Q	probably damaging	Het
Bod1l	A	T	5: 41,974,732 (GRCm39)	V2194D	probably damaging	Het
Cenpf	G	A	1: 189,386,968 (GRCm39)	Q1771*	probably null	Het
Cfap100	C	A	6: 90,392,717 (GRCm39)	R131L	probably benign	Het
Coch	A	T	12: 51,650,082 (GRCm39)	Q357L	probably benign	Het
Col14a1	A	G	15: 55,282,210 (GRCm39)	T824A	unknown	Het
Dnah9	T	C	11: 66,009,655 (GRCm39)	Y744C	probably damaging	Het
Dusp13b	A	G	14: 21,783,907 (GRCm39)	V201A	probably damaging	Het
Egf	T	A	3: 129,530,415 (GRCm39)	H249L	probably benign	Het
Elmod1	G	A	9: 53,838,764 (GRCm39)	P132L	probably benign	Het
Eps8l2	T	C	7: 140,938,143 (GRCm39)	V459A	probably benign	Het
Fbn1	T	C	2: 125,192,207 (GRCm39)	D1434G	probably damaging	Het
Fbn1	G	A	2: 125,143,645 (GRCm39)	T2828I	probably benign	Het
Gbp9	C	T	5: 105,242,039 (GRCm39)	D173N	probably damaging	Het
Gbp9	T	C	5: 105,232,884 (GRCm39)	D256G	probably damaging	Het
Gpsm1	G	A	2: 26,236,921 (GRCm39)	A580T	probably damaging	Het
Hnrnpf	T	C	6: 117,884,094 (GRCm39)		probably benign	Het
Krt33a	T	C	11: 99,902,843 (GRCm39)	E327G	probably benign	Het
M1ap	T	A	6: 82,982,565 (GRCm39)	I283K	probably benign	Het
Mars2	A	G	1: 55,277,155 (GRCm39)	S253G	probably damaging	Het
Myh6	A	T	14: 55,182,000 (GRCm39)	M1767K	probably damaging	Het
Myo3a	T	A	2: 22,245,926 (GRCm39)	D16E	probably damaging	Het
Pitrm1	T	A	13: 6,629,471 (GRCm39)	Y978N	probably benign	Het
Polk	C	T	13: 96,641,030 (GRCm39)	V176M	probably damaging	Het
Pom121	G	T	5: 135,410,463 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,332,133 (GRCm39)	D2447E	probably damaging	Het
Sall3	T	C	18: 81,013,047 (GRCm39)	M1130V	possibly damaging	Het
Scn3a	A	G	2: 65,352,127 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,797,504 (GRCm39)	M241K	probably benign	Het
Septin4	G	A	11: 87,459,075 (GRCm39)	S483N	probably benign	Het
Ssh2	T	G	11: 77,316,156 (GRCm39)	L259R	probably damaging	Het
Tnr	G	T	1: 159,695,813 (GRCm39)	G579W	probably damaging	Het
Vmn1r85	G	T	7: 12,818,496 (GRCm39)	A216D	probably damaging	Het
Vmn2r83	C	A	10: 79,304,894 (GRCm39)	H35N	probably benign	Het
Zar1l	T	A	5: 150,441,569 (GRCm39)	Y19F	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
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

2014-02-04