Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Plekho1'

355820

Institutional Source

Beutler Lab

Gene Symbol

Plekho1

Ensembl Gene

ENSMUSG00000015745

Gene Name

pleckstrin homology domain containing, family O member 1

Synonyms

JZA-20, Jza2, CKIP-1, 2810052M02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4698 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

95896110-95903258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95902964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 15 (N15I)

Ref Sequence

ENSEMBL: ENSMUSP00000015889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000015891] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]

AlphaFold

Q9JIY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015889
AA Change: N15I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: N15I

Domain	Start	End	E-Value	Type
PH	21	133	2.68e-14	SMART
PDB:3AA1\|C	147	169	2e-8	PDB
low complexity region	337	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000015891

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747

Domain	Start	End	E-Value	Type
Pfam:Sec1	23	546	3e-119	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123006
AA Change: N6I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: N6I

Domain	Start	End	E-Value	Type
PH	12	124	2.68e-14	SMART
low complexity region	294	306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130043
AA Change: N24I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: N24I

Domain	Start	End	E-Value	Type
low complexity region	7	15	N/A	INTRINSIC
PH	30	142	2.68e-14	SMART
PDB:3AA1\|C	156	178	2e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000143485

SMART Domains

Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745

Domain	Start	End	E-Value	Type
PH	13	124	1.08e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157043

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,349,049 (GRCm39)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 107,230,979 (GRCm39)	I55T	unknown	Het
Aadacl2	A	G	3: 59,932,460 (GRCm39)	D325G	probably benign	Het
Adh1	A	G	3: 137,988,274 (GRCm39)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,130 (GRCm39)		probably null	Het
Aicda	C	T	6: 122,530,847 (GRCm39)		probably benign	Het
Aifm2	T	C	10: 61,563,535 (GRCm39)	M135T	probably benign	Het
Asah2	T	C	19: 32,031,871 (GRCm39)		probably null	Het
Btbd17	T	C	11: 114,682,543 (GRCm39)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,146,873 (GRCm39)	I383T	probably damaging	Het
Celf3	T	A	3: 94,392,174 (GRCm39)		probably null	Het
Crhr2	T	C	6: 55,079,852 (GRCm39)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,335,118 (GRCm39)	K91*	probably null	Het
Ddx60	A	C	8: 62,465,458 (GRCm39)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,389,358 (GRCm39)	F845I	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,531,478 (GRCm39)	V310A	probably benign	Het
Eef1g	A	G	19: 8,955,330 (GRCm39)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,671,969 (GRCm39)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,877,625 (GRCm39)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,366,240 (GRCm39)	S268R	probably damaging	Het
H3c13	C	A	3: 96,176,394 (GRCm39)	R129S	probably damaging	Het
Ivl	T	C	3: 92,478,698 (GRCm39)	K456E	unknown	Het
Kif20b	A	T	19: 34,928,944 (GRCm39)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,840,508 (GRCm39)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,798,324 (GRCm39)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,459,987 (GRCm39)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,930 (GRCm39)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm39)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,679,057 (GRCm39)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm39)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,268,334 (GRCm39)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,336,951 (GRCm39)	Y666C	probably damaging	Het
Or52s6	T	A	7: 103,091,842 (GRCm39)	I163F	possibly damaging	Het
Or5ac22	T	C	16: 59,135,720 (GRCm39)	T17A	probably damaging	Het
Or5b12b	T	G	19: 12,861,985 (GRCm39)	F247V	probably benign	Het
Or5m10b	A	G	2: 85,699,596 (GRCm39)	Y220C	possibly damaging	Het
Papss1	G	T	3: 131,313,092 (GRCm39)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,822 (GRCm39)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,365,095 (GRCm39)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,187,297 (GRCm39)	D445G	probably damaging	Het
Pprc1	T	C	19: 46,057,634 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,724,061 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,861,481 (GRCm39)	E942G	probably benign	Het
Skor1	T	C	9: 63,051,830 (GRCm39)	D685G	probably benign	Het
Smim23	A	T	11: 32,774,510 (GRCm39)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,630,536 (GRCm39)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Srgap1	C	A	10: 121,628,392 (GRCm39)	R837L	probably benign	Het
Stpg2	C	A	3: 139,014,990 (GRCm39)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,792,016 (GRCm39)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,479,248 (GRCm39)	L142*	probably null	Het
Tyro3	A	T	2: 119,633,751 (GRCm39)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm39)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,507 (GRCm39)		probably benign	Het
Zbtb10	T	C	3: 9,329,610 (GRCm39)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,978,660 (GRCm39)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,558,180 (GRCm39)	C356R	probably damaging	Het

Other mutations in Plekho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Plekho1	APN	3	95,898,147 (GRCm39)	missense	probably damaging	1.00
IGL02198:Plekho1	APN	3	95,899,496 (GRCm39)	missense	probably damaging	1.00
IGL02395:Plekho1	APN	3	95,902,876 (GRCm39)	nonsense	probably null
IGL02898:Plekho1	APN	3	95,899,493 (GRCm39)	missense	probably damaging	1.00
IGL02970:Plekho1	APN	3	95,898,214 (GRCm39)	missense	probably damaging	1.00
R1474:Plekho1	UTSW	3	95,896,878 (GRCm39)	missense	probably damaging	1.00
R2131:Plekho1	UTSW	3	95,896,429 (GRCm39)	missense	probably damaging	1.00
R2437:Plekho1	UTSW	3	95,899,497 (GRCm39)	missense	probably damaging	1.00
R4860:Plekho1	UTSW	3	95,896,305 (GRCm39)	missense	possibly damaging	0.68
R4860:Plekho1	UTSW	3	95,896,305 (GRCm39)	missense	possibly damaging	0.68
R5020:Plekho1	UTSW	3	95,896,851 (GRCm39)	missense	probably damaging	0.99
R5237:Plekho1	UTSW	3	95,902,937 (GRCm39)	missense	probably damaging	1.00
R6528:Plekho1	UTSW	3	95,896,633 (GRCm39)	missense	probably damaging	1.00
R7571:Plekho1	UTSW	3	95,896,566 (GRCm39)	missense	probably damaging	0.97
R9069:Plekho1	UTSW	3	95,902,995 (GRCm39)	missense	unknown
R9733:Plekho1	UTSW	3	95,903,091 (GRCm39)	missense	probably benign
Z1176:Plekho1	UTSW	3	95,903,027 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAGCCGGAGAACTAGCCG -3'
(R):5'- CACGCGTGTTTACCGCAG -3'

Sequencing Primer
(F):5'- AGAACTAGCCGCCGTGG -3'
(R):5'- CGCCCTTCATTCGGAGC -3'

Posted On

2015-10-21