Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Plekha6'

223735

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133284970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 671 (T671A)

Ref Sequence

ENSEMBL: ENSMUSP00000140558 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038295
AA Change: T745A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: T745A

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

possibly damaging
Transcript: ENSMUST00000105082
AA Change: T691A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: T691A

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: ENSMUST00000186917
AA Change: T691A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: T691A

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: T671A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: T671A

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: T522A

Meta Mutation Damage Score

0.0880

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332		probably null	Het
Akap9	T	C	5: 3,961,967	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269		probably null	Het
Ccdc27	T	C	4: 154,033,313	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445		probably benign	Het
Chd7	G	A	4: 8,855,226	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181		probably benign	Het
Col20a1	G	A	2: 181,013,163		probably null	Het
Cped1	A	G	6: 22,143,964	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869		probably benign	Het
Dido1	G	T	2: 180,659,585	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925	I555V	probably benign	Het
Eif2ak2	T	C	17: 78,863,963	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149	D46V	probably benign	Het
Fech	C	T	18: 64,478,727	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223		probably null	Het
Nlgn2	G	T	11: 69,828,441	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222	M101K	possibly damaging	Het
Prex2	G	A	1: 11,162,312	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253		probably benign	Het
Ptprd	A	G	4: 76,133,161	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057		probably null	Het
Rnf213	A	G	11: 119,461,918	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107		probably null	Het
Stx18	A	G	5: 38,135,244	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024		probably benign	Het
Ugdh	T	C	5: 65,416,925	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830	G163D	unknown	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
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
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'- TACCCAGGAAGAGGATGTGC -3'
(R):5'- GCATACACACAGTCACAAGGGG -3'

Sequencing Primer
(F):5'- ATGTGCGGGCAGGAGCTC -3'
(R):5'- CCCTCCATGGCTTAGGGC -3'

Posted On

2014-08-25