Mutagenetix > Incidental Mutations

Incidental Mutation 'R8301:Plekha6'

639234

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 133264687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 78 (N78K)

Ref Sequence

ENSEMBL: ENSMUSP00000048214 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038295
AA Change: N78K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: N78K

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
AA Change: N78K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: N78K

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
AA Change: N78K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: N78K

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: N78K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: N78K

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 damaging
Transcript: ENSMUST00000212252
AA Change: N182K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
9430076C15Rik	A	G	6: 53,681,033	D116G	possibly damaging	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Sepn1	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Plekha6	APN	1	133282165	missense	possibly damaging	0.92
IGL01328:Plekha6	APN	1	133272336	splice site	probably null
IGL01739:Plekha6	APN	1	133260131	missense	probably benign	0.38
IGL01803:Plekha6	APN	1	133272414	nonsense	probably null
IGL02053:Plekha6	APN	1	133272492	missense	probably damaging	1.00
IGL02269:Plekha6	APN	1	133287849	missense	possibly damaging	0.82
IGL02276:Plekha6	APN	1	133293861	missense	possibly damaging	0.93
IGL02478:Plekha6	APN	1	133283293	missense	probably benign	0.03
IGL02754:Plekha6	APN	1	133284938	missense	probably damaging	0.98
G1Funyon:Plekha6	UTSW	1	133264687	missense	probably damaging	0.96
R0100:Plekha6	UTSW	1	133270177	missense	probably damaging	0.99
R0334:Plekha6	UTSW	1	133282180	missense	probably benign	0.24
R0470:Plekha6	UTSW	1	133272307	missense	probably benign	0.07
R1016:Plekha6	UTSW	1	133260094	missense	probably benign	0.00
R1254:Plekha6	UTSW	1	133272589	missense	probably benign	0.10
R1728:Plekha6	UTSW	1	133287846	missense	probably benign
R1729:Plekha6	UTSW	1	133287846	missense	probably benign
R1730:Plekha6	UTSW	1	133287846	missense	probably benign
R1739:Plekha6	UTSW	1	133287846	missense	probably benign
R1762:Plekha6	UTSW	1	133287846	missense	probably benign
R1771:Plekha6	UTSW	1	133273913	missense	probably benign	0.00
R1783:Plekha6	UTSW	1	133287846	missense	probably benign
R1784:Plekha6	UTSW	1	133287846	missense	probably benign
R1785:Plekha6	UTSW	1	133287846	missense	probably benign
R1786:Plekha6	UTSW	1	133279365	splice site	probably null
R1997:Plekha6	UTSW	1	133263818	missense	probably benign	0.43
R2020:Plekha6	UTSW	1	133284970	missense	possibly damaging	0.55
R2130:Plekha6	UTSW	1	133279365	splice site	probably null
R2131:Plekha6	UTSW	1	133279365	splice site	probably null
R2133:Plekha6	UTSW	1	133279365	splice site	probably null
R2992:Plekha6	UTSW	1	133294658	missense	probably damaging	1.00
R3781:Plekha6	UTSW	1	133294655	missense	probably damaging	1.00
R3810:Plekha6	UTSW	1	133273979	missense	probably benign
R4067:Plekha6	UTSW	1	133294678	missense	probably benign	0.40
R4725:Plekha6	UTSW	1	133283320	missense	probably damaging	1.00
R5657:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5658:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5746:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5768:Plekha6	UTSW	1	133280378	missense	probably benign	0.01
R5785:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5892:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5937:Plekha6	UTSW	1	133260101	missense	possibly damaging	0.89
R5985:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R5986:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R6053:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R6072:Plekha6	UTSW	1	133272307	missense	possibly damaging	0.94
R6167:Plekha6	UTSW	1	133279407	missense	probably null	0.96
R6843:Plekha6	UTSW	1	133274878	missense	probably damaging	1.00
R6879:Plekha6	UTSW	1	133260055	missense	possibly damaging	0.95
R6912:Plekha6	UTSW	1	133272535	missense	probably benign	0.02
R6970:Plekha6	UTSW	1	133263818	missense	probably benign	0.43
R7041:Plekha6	UTSW	1	133272460	missense	possibly damaging	0.93
R7248:Plekha6	UTSW	1	133275848	nonsense	probably null
R7400:Plekha6	UTSW	1	133274024	nonsense	probably null
R7720:Plekha6	UTSW	1	133293707	missense	probably damaging	1.00
R7772:Plekha6	UTSW	1	133170022	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133263806	missense	probably benign
R8387:Plekha6	UTSW	1	133292155	splice site	probably null
R8465:Plekha6	UTSW	1	133270040	missense	probably damaging	0.98
R8501:Plekha6	UTSW	1	133287837	missense	probably benign	0.34
R9025:Plekha6	UTSW	1	133285261	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133273949	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133273950	missense	possibly damaging	0.95
R9165:Plekha6	UTSW	1	133272637	missense	probably damaging	1.00
R9179:Plekha6	UTSW	1	133286347	missense	possibly damaging	0.90
R9186:Plekha6	UTSW	1	133292433	missense	probably damaging	1.00
R9188:Plekha6	UTSW	1	133292433	missense	probably damaging	1.00
R9321:Plekha6	UTSW	1	133281811	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133263813	missense	probably benign	0.00
Z1176:Plekha6	UTSW	1	133272471	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATCTCAAGGGAGTTGGCTG -3'
(R):5'- TGAATAGGTCTGAGACTGAGCTG -3'

Sequencing Primer
(F):5'- TTGGCTGCCACGTGCTAG -3'
(R):5'- TGAGACTGAGCTGACAACCCATTG -3'

Posted On

2020-07-28