Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Plekha6'

542149

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133263818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 146 (A146T)

Ref Sequence

ENSEMBL: ENSMUSP00000148746 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

probably benign
Transcript: ENSMUST00000038295
AA Change: A42T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: A42T

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: A42T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: A42T

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: A42T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: A42T

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: ENSMUST00000187285
AA Change: A42T

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: A42T

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

noncoding transcript
Transcript: ENSMUST00000191207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212142

Predicted Effect

probably benign
Transcript: ENSMUST00000212252
AA Change: A146T

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	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
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
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'- ACGCCTTTGAGTTAGCAGAG -3'
(R):5'- TTGGAAGACATTCATAGACAACAGG -3'

Sequencing Primer
(F):5'- CCTTTGAGTTAGCAGAGACTCAAAGC -3'
(R):5'- AACCTACCAAAGAGTGCTTGG -3'

Posted On

2018-11-28