Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01716:Plekha4'

104932

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha4

Ensembl Gene

ENSMUSG00000040428

Gene Name

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4

Synonyms

2410005C22Rik, PEPP1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01716

Quality Score

Status

Chromosome

Chromosomal Location

45175754-45203653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45183767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 66 (S66R)

Ref Sequence

ENSEMBL: ENSMUSP00000148229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000209517] [ENSMUST00000210480] [ENSMUST00000211155] [ENSMUST00000211227] [ENSMUST00000211797]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051810
AA Change: S66R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: S66R

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121932
AA Change: S66R

PolyPhen 2 Score 0.870 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: S66R

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209517
AA Change: S66R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210480

Predicted Effect

probably damaging
Transcript: ENSMUST00000211155
AA Change: S66R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211227
AA Change: S66R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211797
AA Change: A29D

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Apba2	T	C	7: 64,395,574 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,304,307 (GRCm39)	D741G	possibly damaging	Het
Cfap65	T	C	1: 74,966,353 (GRCm39)	T325A	probably benign	Het
Cyp2b23	A	T	7: 26,378,915 (GRCm39)	V183E	probably damaging	Het
Cyp4f14	T	A	17: 33,124,470 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,107,517 (GRCm39)	T1176A	probably benign	Het
Dnah1	A	G	14: 30,985,335 (GRCm39)	I3852T	probably benign	Het
Exoc6	T	A	19: 37,671,412 (GRCm39)	S801T	probably damaging	Het
Fancd2os	T	C	6: 113,574,615 (GRCm39)	I130M	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Kif24	T	C	4: 41,393,454 (GRCm39)	T1140A	probably benign	Het
Limk2	C	T	11: 3,308,990 (GRCm39)		probably null	Het
Mag	C	T	7: 30,599,812 (GRCm39)	V576I	probably benign	Het
Mei4	C	T	9: 81,772,235 (GRCm39)	A16V	probably damaging	Het
Ncoa7	A	G	10: 30,538,330 (GRCm39)	I685T	probably damaging	Het
Nfxl1	A	T	5: 72,698,277 (GRCm39)	V256E	probably damaging	Het
Or1a1	C	T	11: 74,087,207 (GRCm39)	R293W	probably benign	Het
Or1j20	T	A	2: 36,759,679 (GRCm39)	F34I	probably benign	Het
Or9g4b	A	T	2: 85,616,487 (GRCm39)	I211F	probably damaging	Het
Pcdhb2	T	C	18: 37,429,791 (GRCm39)	V588A	probably damaging	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Pcdhb9	T	A	18: 37,536,228 (GRCm39)	S741T	probably damaging	Het
Prex2	A	G	1: 11,336,278 (GRCm39)	N1492S	probably benign	Het
Rbfox3	T	C	11: 118,404,115 (GRCm39)	H28R	possibly damaging	Het
Reep2	C	T	18: 34,979,302 (GRCm39)	T209I	probably benign	Het
Rptn	A	G	3: 93,304,017 (GRCm39)	H450R	possibly damaging	Het
Spock3	A	G	8: 63,808,384 (GRCm39)	D427G	unknown	Het
Tnfrsf1b	C	T	4: 144,942,493 (GRCm39)	C430Y	probably damaging	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Tubgcp3	T	C	8: 12,691,094 (GRCm39)		probably benign	Het
Upp2	A	C	2: 58,680,058 (GRCm39)	T295P	probably damaging	Het
Xpo7	A	G	14: 70,922,995 (GRCm39)	V528A	probably damaging	Het
Zc3h7a	A	G	16: 10,963,580 (GRCm39)	C714R	probably damaging	Het
Zfp764l1	A	G	7: 126,991,208 (GRCm39)	S260P	possibly damaging	Het
Zpbp	A	T	11: 11,354,052 (GRCm39)	S295T	probably benign	Het

Other mutations in Plekha4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Plekha4	APN	7	45,187,659 (GRCm39)	missense	probably damaging	0.97
IGL02072:Plekha4	APN	7	45,187,722 (GRCm39)	missense	probably benign	0.29
IGL02815:Plekha4	APN	7	45,187,836 (GRCm39)	missense	probably damaging	1.00
IGL02939:Plekha4	APN	7	45,181,787 (GRCm39)	nonsense	probably null
PIT4494001:Plekha4	UTSW	7	45,197,503 (GRCm39)	missense	probably damaging	1.00
R0085:Plekha4	UTSW	7	45,193,373 (GRCm39)	nonsense	probably null
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R1036:Plekha4	UTSW	7	45,199,400 (GRCm39)	splice site	probably benign
R1955:Plekha4	UTSW	7	45,203,330 (GRCm39)	missense	probably damaging	0.99
R2049:Plekha4	UTSW	7	45,203,222 (GRCm39)	missense	probably benign	0.01
R2187:Plekha4	UTSW	7	45,198,698 (GRCm39)	missense	probably damaging	0.99
R2888:Plekha4	UTSW	7	45,187,668 (GRCm39)	missense	probably damaging	1.00
R5086:Plekha4	UTSW	7	45,203,082 (GRCm39)	missense	possibly damaging	0.82
R5357:Plekha4	UTSW	7	45,184,195 (GRCm39)	missense	probably damaging	1.00
R5604:Plekha4	UTSW	7	45,198,580 (GRCm39)	missense	probably damaging	0.96
R5611:Plekha4	UTSW	7	45,203,065 (GRCm39)	missense	probably benign
R6255:Plekha4	UTSW	7	45,203,226 (GRCm39)	utr 3 prime	probably benign
R6341:Plekha4	UTSW	7	45,190,572 (GRCm39)	missense	probably damaging	1.00
R6502:Plekha4	UTSW	7	45,180,000 (GRCm39)	start codon destroyed	probably null	0.87
R6720:Plekha4	UTSW	7	45,190,310 (GRCm39)	missense	possibly damaging	0.86
R6776:Plekha4	UTSW	7	45,184,241 (GRCm39)	missense	probably damaging	1.00
R8057:Plekha4	UTSW	7	45,198,695 (GRCm39)	missense	probably benign
R9095:Plekha4	UTSW	7	45,190,492 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21