Mutagenetix > Incidental Mutations

Incidental Mutation 'R0498:Plekhs1'

40641

Institutional Source

Beutler Lab

Gene Symbol

Plekhs1

Ensembl Gene

ENSMUSG00000035818

Gene Name

pleckstrin homology domain containing, family S member 1

Synonyms

9930023K05Rik

MMRRC Submission

038694-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56461640-56486752 bp(+) (GRCm38)

Type of Mutation

splice site (2615 bp from exon)

DNA Base Change (assembly)

T to A at 56481104 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153530 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039666
AA Change: L362Q

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

SMART Domains

Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: L362Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178590
AA Change: L362Q

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

SMART Domains

Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: L362Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225391

Predicted Effect

probably null
Transcript: ENSMUST00000225909

Meta Mutation Damage Score

0.9154

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,294	D220V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,872	I461V	possibly damaging	Het
6720489N17Rik	T	C	13: 62,607,387	N39S	probably damaging	Het
Adgrf2	A	G	17: 42,714,315		probably benign	Het
Aldh18a1	A	G	19: 40,574,272	V219A	probably benign	Het
Anapc10	A	G	8: 79,774,981	D126G	probably benign	Het
Ap1m2	T	C	9: 21,295,833	*426W	probably null	Het
Arhgap21	A	G	2: 20,863,117	I865T	probably damaging	Het
Armc8	A	G	9: 99,497,292	V527A	probably damaging	Het
Asic5	A	T	3: 82,006,471		probably benign	Het
Baz2b	A	C	2: 59,901,996		probably benign	Het
Bpifa5	T	C	2: 154,167,249	V237A	probably damaging	Het
Brip1	T	A	11: 86,197,919	K52I	possibly damaging	Het
Cacna1g	T	C	11: 94,459,859	I387V	probably damaging	Het
Cbr4	A	G	8: 61,495,073	I135V	probably benign	Het
Ccdc66	C	T	14: 27,500,240		probably null	Het
Cubn	G	A	2: 13,444,267	T999M	probably damaging	Het
Dpp8	C	T	9: 65,045,795		probably benign	Het
Dsg1b	T	C	18: 20,409,333	S966P	possibly damaging	Het
Erp27	T	C	6: 136,919,864		probably benign	Het
Fat4	A	T	3: 38,980,637	I2813L	probably benign	Het
Fhod1	G	A	8: 105,329,856	R1101C	probably damaging	Het
Hoxc9	T	C	15: 102,983,927	S191P	probably damaging	Het
Izumo4	T	C	10: 80,704,196		probably null	Het
Kalrn	C	T	16: 34,054,891	D104N	possibly damaging	Het
Kank4	A	T	4: 98,779,636	D191E	probably benign	Het
Kbtbd11	A	G	8: 15,027,605	E68G	probably benign	Het
Kdr	C	T	5: 75,959,138	V654I	probably benign	Het
Klra1	A	T	6: 130,372,819		probably null	Het
Kmt2e	T	A	5: 23,478,972	Y373*	probably null	Het
Lepr	A	T	4: 101,745,692	M226L	probably benign	Het
Lrp1b	T	A	2: 41,458,405	I800F	probably benign	Het
Lta4h	T	C	10: 93,471,971		probably benign	Het
Map3k7	T	C	4: 31,974,814		probably benign	Het
Map4k4	G	A	1: 39,990,178	R371Q	probably benign	Het
Mme	A	G	3: 63,346,066	I444V	probably damaging	Het
Mms19	C	T	19: 41,949,773	R582Q	possibly damaging	Het
Mtss1	A	G	15: 58,945,437	S502P	probably damaging	Het
Myo3a	G	T	2: 22,577,429	A232S	possibly damaging	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr727	A	C	14: 50,127,293	T239P	probably damaging	Het
Olfr874	G	A	9: 37,746,254	G40E	probably damaging	Het
Pcm1	G	A	8: 41,293,769	S1335N	probably benign	Het
Pdzph1	A	G	17: 58,973,830	F486L	probably benign	Het
Piezo2	T	C	18: 63,102,174	K552R	possibly damaging	Het
Pprc1	C	T	19: 46,071,568	Q1514*	probably null	Het
Ralgapa1	T	C	12: 55,689,791	T1831A	possibly damaging	Het
Rnpep	G	T	1: 135,265,352	D455E	probably damaging	Het
Rpgrip1	T	A	14: 52,131,314		probably benign	Het
Saxo1	A	T	4: 86,478,896	M135K	possibly damaging	Het
Serpina12	T	C	12: 104,035,789	T223A	probably damaging	Het
Serpinb3a	A	G	1: 107,047,150	F218L	probably damaging	Het
Serpinb9f	T	G	13: 33,326,007		probably benign	Het
Spata33	A	G	8: 123,221,923	D98G	probably benign	Het
Stard13	T	A	5: 151,052,477	Y742F	probably damaging	Het
Tcrg-C3	T	A	13: 19,261,092	M70K	probably damaging	Het
Tecta	A	G	9: 42,377,614	Y552H	probably damaging	Het
Tie1	A	T	4: 118,479,161		probably benign	Het
Tmem161a	A	G	8: 70,180,973	T254A	probably benign	Het
Tmem30a	G	T	9: 79,774,094	Y264*	probably null	Het
Tmem87a	A	T	2: 120,394,465	I105K	probably benign	Het
Tnrc6b	A	T	15: 80,858,719	D51V	probably damaging	Het
Trpc4	T	C	3: 54,291,211	F519L	probably damaging	Het
Ttn	T	C	2: 76,709,581	T26027A	probably damaging	Het
Vmn1r198	A	C	13: 22,354,974	H121P	probably damaging	Het
Vps33a	A	G	5: 123,570,961	F64L	probably benign	Het
Wdr63	G	T	3: 146,081,364	D305E	possibly damaging	Het
Zfp994	A	T	17: 22,200,901	C356S	probably damaging	Het

Other mutations in Plekhs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Plekhs1	APN	19	56464599	critical splice donor site	probably null
IGL01387:Plekhs1	APN	19	56470971	missense	probably benign	0.00
IGL02506:Plekhs1	APN	19	56471766	missense	probably damaging	1.00
FR4304:Plekhs1	UTSW	19	56479858	unclassified	probably benign
FR4340:Plekhs1	UTSW	19	56479858	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56479858	unclassified	probably benign
FR4342:Plekhs1	UTSW	19	56479861	unclassified	probably benign
FR4589:Plekhs1	UTSW	19	56479863	unclassified	probably benign
FR4737:Plekhs1	UTSW	19	56479863	unclassified	probably benign
IGL03052:Plekhs1	UTSW	19	56470757	missense	probably benign	0.43
R0023:Plekhs1	UTSW	19	56478516	missense	probably damaging	0.99
R0023:Plekhs1	UTSW	19	56478516	missense	probably damaging	0.99
R0100:Plekhs1	UTSW	19	56478502	missense	probably damaging	1.00
R0100:Plekhs1	UTSW	19	56478502	missense	probably damaging	1.00
R0129:Plekhs1	UTSW	19	56477290	critical splice donor site	probably null
R1264:Plekhs1	UTSW	19	56485763	missense	probably benign
R1528:Plekhs1	UTSW	19	56479995	missense	probably damaging	1.00
R1650:Plekhs1	UTSW	19	56471042	missense	probably damaging	1.00
R1820:Plekhs1	UTSW	19	56478522	missense	possibly damaging	0.48
R2884:Plekhs1	UTSW	19	56470826	missense	probably benign	0.01
R3237:Plekhs1	UTSW	19	56464600	splice site	probably null
R4395:Plekhs1	UTSW	19	56479894	missense	probably benign
R4825:Plekhs1	UTSW	19	56473268	splice site	probably null
R5484:Plekhs1	UTSW	19	56479828	missense	possibly damaging	0.82
R5511:Plekhs1	UTSW	19	56485792	missense	probably damaging	0.97
R7105:Plekhs1	UTSW	19	56477215	missense	probably damaging	0.99
R7267:Plekhs1	UTSW	19	56470777	missense	probably damaging	0.96
R8212:Plekhs1	UTSW	19	56471756	missense	probably damaging	1.00
R8458:Plekhs1	UTSW	19	56477158	missense	probably benign	0.36
RF025:Plekhs1	UTSW	19	56479858	unclassified	probably benign
RF043:Plekhs1	UTSW	19	56479858	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATGGCTTTCAGTGCCTTAAACTCAC -3'
(R):5'- TGTACCCCTGCAAAAGTTGACCTC -3'

Sequencing Primer
(F):5'- TGTCATCTCAGAAACAGAAGGC -3'
(R):5'- TGCAAAAGTTGACCTCACATAAAG -3'

Posted On

2013-05-23