Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Plekha6'

595155

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: 0.168) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133293707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 987 (V987A)

Ref Sequence

ENSEMBL: ENSMUSP00000048214 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038295
AA Change: V987A

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

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: V987A

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: V883A

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

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: V883A

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: V883A

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

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: V883A

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: V862A

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

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: V862A

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: ENSMUST00000190186
AA Change: V714A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1210

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	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
R7772:Plekha6	UTSW	1	133170022	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133263806	missense	probably benign
R8301:Plekha6	UTSW	1	133264687	missense	probably damaging	0.96
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'- ACTGATGAGGTCCTGTCTCTG -3'
(R):5'- TGTGGAGAGTCTAAGGTCACC -3'

Sequencing Primer
(F):5'- CTCTGGGCCTTGCTGTAG -3'
(R):5'- AGAGTCTAAGGTCACCGCCTG -3'

Posted On

2019-11-12