Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Plekha6'

696869

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

Essential gene?

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

Stock #

R9179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133164210-133303435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133286347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 832 (Y832C)

Ref Sequence

ENSEMBL: ENSMUSP00000048214 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038295
AA Change: Y832C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: Y832C

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

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757

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

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757

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

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757

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

probably benign
Transcript: ENSMUST00000190186

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,356,923	M33L	probably benign	Het
2310003L06Rik	A	G	5: 87,972,031	T216A	probably benign	Het
5430403G16Rik	A	G	5: 109,675,842	C581R	probably damaging	Het
9330161L09Rik	A	C	12: 103,407,578	C12G	unknown	Het
Ahdc1	T	A	4: 133,061,618	F57I	possibly damaging	Het
Amotl1	C	A	9: 14,550,491	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,523,185	M121I	probably benign	Het
Aspm	A	G	1: 139,476,715	D1261G	probably damaging	Het
Axl	T	C	7: 25,770,233	T502A	probably damaging	Het
Catsperd	G	A	17: 56,661,252	D546N	probably benign	Het
Ccdc102a	A	G	8: 94,913,120	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,317,885	A2309T	probably benign	Het
Cfap69	A	T	5: 5,626,064	N210K	probably benign	Het
Cnot1	A	G	8: 95,773,426	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,293,917	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,705,844	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,700,211	D336G	possibly damaging	Het
Dagla	A	G	19: 10,251,161	I631T	possibly damaging	Het
Dph6	C	T	2: 114,523,110	C199Y	probably damaging	Het
Ermard	T	A	17: 15,053,233	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,788	T190A	probably benign	Het
Fgfr3	G	T	5: 33,729,972	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541	C450*	probably null	Het
Gls	T	C	1: 52,199,856	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246	D8G	possibly damaging	Het
Gns	T	C	10: 121,380,175	F276L		Het
Grin2d	A	G	7: 45,856,752	S572P	probably damaging	Het
Impa2	C	T	18: 67,289,403		probably benign	Het
Itgal	A	T	7: 127,306,711	D355V	probably benign	Het
Kdm6b	A	T	11: 69,406,695		probably null	Het
Klk1b1	T	A	7: 43,969,291	C31S	probably damaging	Het
Ldb3	A	T	14: 34,555,355	V354E	probably benign	Het
Mettl21c	T	A	1: 44,009,982	Y135F	probably benign	Het
Mocs1	A	G	17: 49,433,275	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,170,115	N30D	probably benign	Het
Olfr1243	T	A	2: 89,528,150	K87*	probably null	Het
Olfr339	T	C	2: 36,422,114	S239P	probably damaging	Het
Otog	C	A	7: 46,288,461	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 164,031,220	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,857,395	W78L	probably damaging	Het
Ppan	C	A	9: 20,891,903	Q424K	probably benign	Het
Ppp1r12a	T	A	10: 108,251,921	N544K	probably damaging	Het
Pramef25	T	C	4: 143,949,724	E270G	probably benign	Het
Pstpip2	A	G	18: 77,873,455	D246G	possibly damaging	Het
Rasef	G	A	4: 73,744,119	T198I	probably damaging	Het
Rbm12	T	C	2: 156,096,543	H603R	probably benign	Het
Rims1	T	C	1: 22,412,266	R179G	probably damaging	Het
Scel	T	C	14: 103,574,400	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,811,952	D696E	probably benign	Het
Slc4a8	A	G	15: 100,791,601	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,623,051	M218L	probably benign	Het
Tnrc6a	T	C	7: 123,192,658	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,541,950	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,672,724	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,098,361	T1419I	probably benign	Het
Xrn2	T	C	2: 147,013,161	Y14H	probably benign	Het
Zfyve28	A	T	5: 34,225,032	D241E	probably benign	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
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
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'- TGGATAAGACTATCTGGCTCCTG -3'
(R):5'- AGCTGACCTGTGAGACTGTG -3'

Sequencing Primer
(F):5'- GATAAGACTATCTGGCTCCTGCTAAC -3'
(R):5'- TGTGAGACTGTGCCTCCAG -3'

Posted On

2022-02-07