Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:Plekhb1'

69416

Institutional Source

Beutler Lab

Gene Symbol

Plekhb1

Ensembl Gene

ENSMUSG00000030701

Gene Name

pleckstrin homology domain containing, family B (evectins) member 1

Synonyms

PHR1, evt-1, Phret1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V7580 () of strain stinger

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

100292099-100311621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100303825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 112 (T112A)

Ref Sequence

ENSEMBL: ENSMUSP00000115559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079176] [ENSMUST00000107043] [ENSMUST00000107044] [ENSMUST00000107045] [ENSMUST00000107046] [ENSMUST00000107047] [ENSMUST00000116287] [ENSMUST00000151123] [ENSMUST00000139708] [ENSMUST00000138830] [ENSMUST00000208812]

AlphaFold

Q9QYE9

Predicted Effect

probably benign
Transcript: ENSMUST00000079176
AA Change: T112A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701
AA Change: T112A

Domain	Start	End	E-Value	Type
PH	22	130	1.25e-5	SMART
low complexity region	216	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107043
AA Change: T93A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102658
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PDB:2D9V\|A	2	103	1e-68	PDB
SCOP:d1dbha2	3	97	7e-12	SMART
Blast:PH	3	103	9e-67	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000107044
AA Change: T93A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	162	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107045
AA Change: T93A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	197	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107046
AA Change: T93A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	162	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107047
AA Change: T112A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701
AA Change: T112A

Domain	Start	End	E-Value	Type
PH	22	130	1.25e-5	SMART
low complexity region	181	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116287
AA Change: T93A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	197	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151123
AA Change: T112A

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115559
Gene: ENSMUSG00000030701
AA Change: T112A

Domain	Start	End	E-Value	Type
PH	22	130	1.25e-5	SMART
low complexity region	216	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139708
AA Change: T93A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122333
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138830
AA Change: T93A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116888
Gene: ENSMUSG00000030701
AA Change: T93A

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135255

Meta Mutation Damage Score

0.1455

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable with no abnormalities detected in growth, behavior including balance, inner ear histology, or serum and urine electrolyte concentrations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Med20	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Plekhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Plekhb1	APN	7	100,304,506 (GRCm39)	missense	probably damaging	1.00
F5770:Plekhb1	UTSW	7	100,303,825 (GRCm39)	missense	probably benign	0.35
R0722:Plekhb1	UTSW	7	100,294,810 (GRCm39)	missense	probably damaging	1.00
R1891:Plekhb1	UTSW	7	100,304,599 (GRCm39)	missense	probably damaging	1.00
R3427:Plekhb1	UTSW	7	100,294,857 (GRCm39)	missense	probably damaging	1.00
R5506:Plekhb1	UTSW	7	100,294,150 (GRCm39)	splice site	probably null
R5695:Plekhb1	UTSW	7	100,304,602 (GRCm39)	missense	probably damaging	1.00
R5696:Plekhb1	UTSW	7	100,305,960 (GRCm39)	missense	probably damaging	1.00
R5789:Plekhb1	UTSW	7	100,294,793 (GRCm39)	nonsense	probably null
R6633:Plekhb1	UTSW	7	100,294,846 (GRCm39)	missense	probably damaging	1.00
R7304:Plekhb1	UTSW	7	100,294,874 (GRCm39)	missense	probably benign	0.19
R7763:Plekhb1	UTSW	7	100,294,870 (GRCm39)	missense	probably benign
R8271:Plekhb1	UTSW	7	100,305,936 (GRCm39)	splice site	probably benign
R9622:Plekhb1	UTSW	7	100,304,588 (GRCm39)	missense	probably damaging	1.00
V7582:Plekhb1	UTSW	7	100,303,825 (GRCm39)	missense	probably benign	0.35
V7583:Plekhb1	UTSW	7	100,303,825 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGTTGCTCAGAGCATAGCTGCC -3'
(R):5'- GACCCCAAGAAGTCAATGTCTGCC -3'

Sequencing Primer
(F):5'- TAGACACTGCCTTGCTGAAG -3'
(R):5'- AAGTCAATGTCTGCCACTGTG -3'

Posted On

2013-09-04