Mutagenetix > Incidental Mutation

Incidental Mutation 'R3427:Plekhb1'

267917

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

MMRRC Submission

040645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3427 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100292099-100311621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100294857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 172 (Y172C)

Ref Sequence

ENSEMBL: ENSMUSP00000115559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000079176] [ENSMUST00000098252] [ENSMUST00000107043] [ENSMUST00000107044] [ENSMUST00000107045] [ENSMUST00000107046] [ENSMUST00000138830] [ENSMUST00000139708] [ENSMUST00000151123] [ENSMUST00000107047] [ENSMUST00000116287] [ENSMUST00000107048]

AlphaFold

Q9QYE9

Predicted Effect

probably benign
Transcript: ENSMUST00000032946

SMART Domains

Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	14	177	6.24e-89	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000079176
AA Change: Y172C

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

SMART Domains

Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701
AA Change: Y172C

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: ENSMUST00000098252

SMART Domains

Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	14	177	5.52e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107043
AA Change: I105V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102658
Gene: ENSMUSG00000030701
AA Change: I105V

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 damaging
Transcript: ENSMUST00000107044
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701
AA Change: Y118C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107045
AA Change: Y153C

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

SMART Domains

Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701
AA Change: Y153C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107046
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701
AA Change: Y118C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138830
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116888
Gene: ENSMUSG00000030701
AA Change: Y118C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135255

Predicted Effect

probably damaging
Transcript: ENSMUST00000139708
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122333
Gene: ENSMUSG00000030701
AA Change: Y118C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151123
AA Change: Y172C

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

SMART Domains

Protein: ENSMUSP00000115559
Gene: ENSMUSG00000030701
AA Change: Y172C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107047
AA Change: Y137C

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

SMART Domains

Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701
AA Change: Y137C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000116287
AA Change: Y153C

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

SMART Domains

Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701
AA Change: Y153C

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: ENSMUST00000107048

SMART Domains

Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	1	144	2.57e-67	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	A	9: 107,806,969 (GRCm39)	F431I	probably damaging	Het
Asb18	C	T	1: 89,896,315 (GRCm39)	G242S	probably damaging	Het
Atp13a3	T	C	16: 30,163,411 (GRCm39)	I582V	probably benign	Het
BC034090	T	C	1: 155,117,244 (GRCm39)	I291M	probably benign	Het
Bsph1	T	C	7: 13,206,168 (GRCm39)	Y78H	probably damaging	Het
Chd6	G	T	2: 160,832,175 (GRCm39)	T999N	probably damaging	Het
Cps1	T	A	1: 67,213,653 (GRCm39)	V795E	probably damaging	Het
Crhr1	A	G	11: 104,064,419 (GRCm39)		probably null	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ctbp2	A	T	7: 132,593,321 (GRCm39)	H793Q	probably damaging	Het
Cul5	T	C	9: 53,529,190 (GRCm39)	M805V	probably benign	Het
Dctn3	T	C	4: 41,719,858 (GRCm39)	K83E	probably damaging	Het
Ep300	A	G	15: 81,485,480 (GRCm39)	N156D	unknown	Het
Epb42	A	T	2: 120,860,520 (GRCm39)	L160M	probably damaging	Het
Exosc2	T	C	2: 31,569,900 (GRCm39)	L237P	probably damaging	Het
Fiz1	A	G	7: 5,015,708 (GRCm39)	F94S	probably damaging	Het
Gm5422	A	G	10: 31,124,842 (GRCm39)		noncoding transcript	Het
Igsf9b	T	C	9: 27,245,873 (GRCm39)	F1280S	probably damaging	Het
Igtp	G	A	11: 58,097,419 (GRCm39)	V197I	probably damaging	Het
Kcnh1	T	C	1: 191,924,238 (GRCm39)	F151L	probably benign	Het
Nudc	C	T	4: 133,261,568 (GRCm39)	G239S	probably benign	Het
Or6c215	T	C	10: 129,637,720 (GRCm39)	K225E	possibly damaging	Het
Plscr4	T	C	9: 92,370,797 (GRCm39)	S255P	probably damaging	Het
Rbm26	A	G	14: 105,368,968 (GRCm39)	V737A	probably damaging	Het
Rps6ka4	C	A	19: 6,815,123 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGTCG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	G	A	18: 89,113,775 (GRCm39)		probably null	Het
Slc22a5	A	G	11: 53,760,152 (GRCm39)	V388A	probably benign	Het
Strip1	T	C	3: 107,524,138 (GRCm39)	H593R	possibly damaging	Het
Sycp1	A	T	3: 102,783,666 (GRCm39)	C603S	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc1	C	T	9: 95,614,249 (GRCm39)	R5Q	probably benign	Het
Trpv3	A	T	11: 73,176,767 (GRCm39)	Y382F	probably damaging	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	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
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
V7580:Plekhb1	UTSW	7	100,303,825 (GRCm39)	missense	probably benign	0.35
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'- CCCGGAGAGTCTGTTTTGAATC -3'
(R):5'- AAGGCATTATTGGGAGCTGG -3'

Sequencing Primer
(F):5'- CTGCAAAATATGTATACCCTCAAAGG -3'
(R):5'- AGCTGGATGTTTTAGGGGAGAAG -3'

Posted On

2015-02-18