Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:Plekhs1'

296342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhs1

Ensembl Gene

ENSMUSG00000035818

Gene Name

pleckstrin homology domain containing, family S member 1

Synonyms

9930023K05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

56450072-56475184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56460198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 97 (C97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000136674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039666] [ENSMUST00000178590] [ENSMUST00000225909]

AlphaFold

Q8BW88

Predicted Effect

probably damaging
Transcript: ENSMUST00000039666
AA Change: C98Y

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

SMART Domains

Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: C98Y

Domain	Start	End	E-Value	Type
PH	21	137	4.68e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178590
AA Change: C97Y

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

SMART Domains

Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: C97Y

Domain	Start	End	E-Value	Type
PH	21	136	1.77e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224840

Predicted Effect

probably damaging
Transcript: ENSMUST00000225909
AA Change: C97Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,916 (GRCm39)	E189G	possibly damaging	Het
Acad11	T	C	9: 103,968,931 (GRCm39)		probably null	Het
Adcy7	G	T	8: 89,044,571 (GRCm39)	R488L	probably damaging	Het
Akt1	C	T	12: 112,625,714 (GRCm39)		probably benign	Het
Ano9	C	T	7: 140,682,167 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,953,820 (GRCm39)	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,585,456 (GRCm39)	V127D	probably benign	Het
Cacna1g	A	G	11: 94,319,955 (GRCm39)	M1407T	probably damaging	Het
Card9	A	C	2: 26,244,427 (GRCm39)		probably benign	Het
Cdh5	A	G	8: 104,864,454 (GRCm39)	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,227,379 (GRCm39)	T343S	probably benign	Het
Cic	T	A	7: 24,990,282 (GRCm39)	C1928S	probably benign	Het
Clk3	C	T	9: 57,661,927 (GRCm39)	W31*	probably null	Het
Cntn4	A	G	6: 106,595,349 (GRCm39)	T489A	probably benign	Het
Crispld1	G	A	1: 17,826,529 (GRCm39)	R431H	probably damaging	Het
Crmp1	T	A	5: 37,436,199 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,218 (GRCm39)	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,736,198 (GRCm39)	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,757,507 (GRCm39)	N141D	probably damaging	Het
Dip2b	T	A	15: 100,055,162 (GRCm39)	L341Q	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fam227b	T	A	2: 125,845,831 (GRCm39)	Y386F	probably benign	Het
Fmn1	A	T	2: 113,355,640 (GRCm39)	T694S	unknown	Het
Gcnt2	T	A	13: 41,040,856 (GRCm39)	V5E	probably benign	Het
Herpud1	G	T	8: 95,121,270 (GRCm39)	E355*	probably null	Het
Igf1r	T	C	7: 67,843,144 (GRCm39)	S752P	probably benign	Het
Iqsec1	T	C	6: 90,649,057 (GRCm39)	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,409,110 (GRCm39)	S1598P	probably damaging	Het
Klk1b9	A	G	7: 43,445,063 (GRCm39)	E185G	probably benign	Het
Myo16	G	T	8: 10,440,217 (GRCm39)	R423L	probably damaging	Het
Myo7b	T	C	18: 32,100,207 (GRCm39)	E1609G	probably damaging	Het
Nom1	T	A	5: 29,644,814 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,727,480 (GRCm39)	I1040V	possibly damaging	Het
Or8b39	G	A	9: 37,996,741 (GRCm39)	G203D	probably damaging	Het
Paqr9	T	C	9: 95,442,748 (GRCm39)	V246A	probably benign	Het
Pfkfb4	A	T	9: 108,859,404 (GRCm39)	D437V	probably benign	Het
Phldb1	G	T	9: 44,622,223 (GRCm39)	D797E	probably benign	Het
Pkd1l3	A	G	8: 110,374,132 (GRCm39)	E1399G	probably damaging	Het
Plscr4	A	T	9: 92,372,044 (GRCm39)	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,456,366 (GRCm39)	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 184,984,221 (GRCm39)		probably benign	Het
Rad23b	T	C	4: 55,382,511 (GRCm39)	V238A	probably benign	Het
Sel1l2	T	C	2: 140,117,380 (GRCm39)	T164A	possibly damaging	Het
Serpinh1	T	A	7: 98,996,199 (GRCm39)	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,453,687 (GRCm39)	E770G	probably benign	Het
Spag4	T	C	2: 155,911,142 (GRCm39)	L390P	probably damaging	Het
Stip1	A	G	19: 7,012,857 (GRCm39)		probably benign	Het
Tacr1	A	G	6: 82,380,739 (GRCm39)	N50S	probably damaging	Het
Tg	T	C	15: 66,613,443 (GRCm39)	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,276,493 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,909,738 (GRCm39)	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,308 (GRCm39)	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,335,232 (GRCm39)	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,095,965 (GRCm39)	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,330,297 (GRCm39)	F552I	probably damaging	Het
Zfp507	T	C	7: 35,475,891 (GRCm39)	I811V	probably damaging	Het
Zfp663	A	T	2: 165,195,871 (GRCm39)	V116D	probably benign	Het

Other mutations in Plekhs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Plekhs1	APN	19	56,453,031 (GRCm39)	critical splice donor site	probably null
IGL01387:Plekhs1	APN	19	56,459,403 (GRCm39)	missense	probably benign	0.00
FR4304:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4340:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56,468,293 (GRCm39)	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
FR4589:Plekhs1	UTSW	19	56,468,295 (GRCm39)	unclassified	probably benign
FR4737:Plekhs1	UTSW	19	56,468,295 (GRCm39)	unclassified	probably benign
IGL03052:Plekhs1	UTSW	19	56,459,189 (GRCm39)	missense	probably benign	0.43
R0023:Plekhs1	UTSW	19	56,466,948 (GRCm39)	missense	probably damaging	0.99
R0023:Plekhs1	UTSW	19	56,466,948 (GRCm39)	missense	probably damaging	0.99
R0100:Plekhs1	UTSW	19	56,466,934 (GRCm39)	missense	probably damaging	1.00
R0100:Plekhs1	UTSW	19	56,466,934 (GRCm39)	missense	probably damaging	1.00
R0129:Plekhs1	UTSW	19	56,465,722 (GRCm39)	critical splice donor site	probably null
R0498:Plekhs1	UTSW	19	56,469,536 (GRCm39)	splice site	probably null
R1264:Plekhs1	UTSW	19	56,474,195 (GRCm39)	missense	probably benign
R1528:Plekhs1	UTSW	19	56,468,427 (GRCm39)	missense	probably damaging	1.00
R1650:Plekhs1	UTSW	19	56,459,474 (GRCm39)	missense	probably damaging	1.00
R1820:Plekhs1	UTSW	19	56,466,954 (GRCm39)	missense	possibly damaging	0.48
R2884:Plekhs1	UTSW	19	56,459,258 (GRCm39)	missense	probably benign	0.01
R3237:Plekhs1	UTSW	19	56,453,032 (GRCm39)	splice site	probably null
R4395:Plekhs1	UTSW	19	56,468,326 (GRCm39)	missense	probably benign
R4825:Plekhs1	UTSW	19	56,461,700 (GRCm39)	splice site	probably null
R5484:Plekhs1	UTSW	19	56,468,260 (GRCm39)	missense	possibly damaging	0.82
R5511:Plekhs1	UTSW	19	56,474,224 (GRCm39)	missense	probably damaging	0.97
R7105:Plekhs1	UTSW	19	56,465,647 (GRCm39)	missense	probably damaging	0.99
R7267:Plekhs1	UTSW	19	56,459,209 (GRCm39)	missense	probably damaging	0.96
R8212:Plekhs1	UTSW	19	56,460,188 (GRCm39)	missense	probably damaging	1.00
R8458:Plekhs1	UTSW	19	56,465,590 (GRCm39)	missense	probably benign	0.36
R8905:Plekhs1	UTSW	19	56,471,028 (GRCm39)	missense	probably damaging	1.00
R8962:Plekhs1	UTSW	19	56,461,680 (GRCm39)	missense	possibly damaging	0.73
R9564:Plekhs1	UTSW	19	56,461,628 (GRCm39)	missense	probably damaging	1.00
RF025:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign
RF043:Plekhs1	UTSW	19	56,468,290 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16