Mutagenetix > Incidental Mutation

Incidental Mutation 'R2992:Plekha6'

257928

Institutional Source

Beutler Lab

Gene Symbol

Plekha6

Ensembl Gene

ENSMUSG00000041757

Gene Name

pleckstrin homology domain containing, family A member 6

Synonyms

Pepp3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R2992 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

133091948-133231173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133222396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 994 (I994T)

Ref Sequence

ENSEMBL: ENSMUSP00000140558 (fasta)

Gene Model

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

AlphaFold

Q7TQG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038295
AA Change: I1119T

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

SMART Domains

Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: I1119T

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: I1015T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: I1015T

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: I1015T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: I1015T

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: I994T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: I994T

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

unknown
Transcript: ENSMUST00000190186
AA Change: I846T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190884

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Baat	A	T	4: 49,499,675 (GRCm39)	Y210*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep295	T	A	9: 15,244,043 (GRCm39)	K1471I	probably damaging	Het
Cpne4	A	T	9: 104,899,564 (GRCm39)	I416F	probably damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Isg20	C	T	7: 78,569,632 (GRCm39)	A201V	probably benign	Het
Kdm6b	ACTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTG	11: 69,297,133 (GRCm39)		probably benign	Het
Mmp16	G	T	4: 18,011,657 (GRCm39)	G191C	probably damaging	Het
Or51aa5	C	T	7: 103,166,977 (GRCm39)	V205M	probably damaging	Het
Or6c2b	C	A	10: 128,947,404 (GRCm39)	E297*	probably null	Het
Or9m2	T	C	2: 87,821,121 (GRCm39)	V222A	probably benign	Het
Patl2	T	C	2: 121,956,235 (GRCm39)	S210G	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rhobtb2	A	G	14: 70,035,772 (GRCm39)	S100P	probably damaging	Het
Snx13	T	C	12: 35,155,190 (GRCm39)	L418P	probably damaging	Het
Spink5	A	C	18: 44,129,696 (GRCm39)	E429A	probably damaging	Het

Other mutations in Plekha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Plekha6	APN	1	133,209,903 (GRCm39)	missense	possibly damaging	0.92
IGL01328:Plekha6	APN	1	133,200,074 (GRCm39)	splice site	probably null
IGL01739:Plekha6	APN	1	133,187,869 (GRCm39)	missense	probably benign	0.38
IGL01803:Plekha6	APN	1	133,200,152 (GRCm39)	nonsense	probably null
IGL02053:Plekha6	APN	1	133,200,230 (GRCm39)	missense	probably damaging	1.00
IGL02269:Plekha6	APN	1	133,215,587 (GRCm39)	missense	possibly damaging	0.82
IGL02276:Plekha6	APN	1	133,221,599 (GRCm39)	missense	possibly damaging	0.93
IGL02478:Plekha6	APN	1	133,211,031 (GRCm39)	missense	probably benign	0.03
IGL02754:Plekha6	APN	1	133,212,676 (GRCm39)	missense	probably damaging	0.98
G1Funyon:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R0100:Plekha6	UTSW	1	133,197,915 (GRCm39)	missense	probably damaging	0.99
R0334:Plekha6	UTSW	1	133,209,918 (GRCm39)	missense	probably benign	0.24
R0470:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	probably benign	0.07
R1016:Plekha6	UTSW	1	133,187,832 (GRCm39)	missense	probably benign	0.00
R1254:Plekha6	UTSW	1	133,200,327 (GRCm39)	missense	probably benign	0.10
R1728:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1729:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1730:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1739:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1762:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1771:Plekha6	UTSW	1	133,201,651 (GRCm39)	missense	probably benign	0.00
R1783:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1784:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1785:Plekha6	UTSW	1	133,215,584 (GRCm39)	missense	probably benign
R1786:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R1997:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R2020:Plekha6	UTSW	1	133,212,708 (GRCm39)	missense	possibly damaging	0.55
R2130:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2131:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R2133:Plekha6	UTSW	1	133,207,103 (GRCm39)	splice site	probably null
R3781:Plekha6	UTSW	1	133,222,393 (GRCm39)	missense	probably damaging	1.00
R3810:Plekha6	UTSW	1	133,201,717 (GRCm39)	missense	probably benign
R4067:Plekha6	UTSW	1	133,222,416 (GRCm39)	missense	probably benign	0.40
R4725:Plekha6	UTSW	1	133,211,058 (GRCm39)	missense	probably damaging	1.00
R5657:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5658:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5746:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5768:Plekha6	UTSW	1	133,208,116 (GRCm39)	missense	probably benign	0.01
R5785:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5892:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5937:Plekha6	UTSW	1	133,187,839 (GRCm39)	missense	possibly damaging	0.89
R5985:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R5986:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6053:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6072:Plekha6	UTSW	1	133,200,045 (GRCm39)	missense	possibly damaging	0.94
R6167:Plekha6	UTSW	1	133,207,145 (GRCm39)	missense	probably null	0.96
R6843:Plekha6	UTSW	1	133,202,616 (GRCm39)	missense	probably damaging	1.00
R6879:Plekha6	UTSW	1	133,187,793 (GRCm39)	missense	possibly damaging	0.95
R6912:Plekha6	UTSW	1	133,200,273 (GRCm39)	missense	probably benign	0.02
R6970:Plekha6	UTSW	1	133,191,556 (GRCm39)	missense	probably benign	0.43
R7041:Plekha6	UTSW	1	133,200,198 (GRCm39)	missense	possibly damaging	0.93
R7248:Plekha6	UTSW	1	133,203,586 (GRCm39)	nonsense	probably null
R7400:Plekha6	UTSW	1	133,201,762 (GRCm39)	nonsense	probably null
R7720:Plekha6	UTSW	1	133,221,445 (GRCm39)	missense	probably damaging	1.00
R7772:Plekha6	UTSW	1	133,097,760 (GRCm39)	missense	possibly damaging	0.57
R8011:Plekha6	UTSW	1	133,191,544 (GRCm39)	missense	probably benign
R8301:Plekha6	UTSW	1	133,192,425 (GRCm39)	missense	probably damaging	0.96
R8387:Plekha6	UTSW	1	133,219,893 (GRCm39)	splice site	probably null
R8465:Plekha6	UTSW	1	133,197,778 (GRCm39)	missense	probably damaging	0.98
R8501:Plekha6	UTSW	1	133,215,575 (GRCm39)	missense	probably benign	0.34
R9025:Plekha6	UTSW	1	133,212,999 (GRCm39)	missense	probably benign	0.01
R9044:Plekha6	UTSW	1	133,201,688 (GRCm39)	missense	possibly damaging	0.95
R9044:Plekha6	UTSW	1	133,201,687 (GRCm39)	missense	probably benign	0.01
R9165:Plekha6	UTSW	1	133,200,375 (GRCm39)	missense	probably damaging	1.00
R9179:Plekha6	UTSW	1	133,214,085 (GRCm39)	missense	possibly damaging	0.90
R9186:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9188:Plekha6	UTSW	1	133,220,171 (GRCm39)	missense	probably damaging	1.00
R9321:Plekha6	UTSW	1	133,209,549 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,200,209 (GRCm39)	missense	probably damaging	0.98
Z1176:Plekha6	UTSW	1	133,191,551 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGGCTGCACACTCAAAG -3'
(R):5'- AGTGAATGCTCGGTCTGACC -3'

Sequencing Primer
(F):5'- CACTCAAAGGCCCCTGG -3'
(R):5'- AATGCTCGGTCTGACCCTATGAAC -3'

Posted On

2015-01-11