Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Plekhb1'

525302

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

044755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100292099-100311621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100294846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 122 (Y122H)

Ref Sequence

ENSEMBL: ENSMUSP00000116888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000079176] [ENSMUST00000098252] [ENSMUST00000107043] [ENSMUST00000107044] [ENSMUST00000107045] [ENSMUST00000107046] [ENSMUST00000107047] [ENSMUST00000116287] [ENSMUST00000138830] [ENSMUST00000139708] [ENSMUST00000151123] [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: Y176H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701
AA Change: Y176H

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

silent
Transcript: ENSMUST00000107043

SMART Domains

Protein: ENSMUSP00000102658
Gene: ENSMUSG00000030701

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: Y122H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701
AA Change: Y122H

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: Y157H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701
AA Change: Y157H

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: Y122H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701
AA Change: Y122H

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: ENSMUST00000107047
AA Change: Y141H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701
AA Change: Y141H

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: Y157H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701
AA Change: Y157H

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: ENSMUST00000138830
AA Change: Y122H

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

SMART Domains

Protein: ENSMUSP00000116888
Gene: ENSMUSG00000030701
AA Change: Y122H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139708
AA Change: Y122H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122333
Gene: ENSMUSG00000030701
AA Change: Y122H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151123
AA Change: Y176H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115559
Gene: ENSMUSG00000030701
AA Change: Y176H

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: ENSMUST00000107048

SMART Domains

Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135255

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Acot7	C	T	4: 152,262,716 (GRCm39)	P30L	probably benign	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adamdec1	T	C	14: 68,810,601 (GRCm39)	D185G	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,561,363 (GRCm39)	T19A	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Klk1b27	A	T	7: 43,705,234 (GRCm39)	I134F	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tex30	A	C	1: 44,127,084 (GRCm39)	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	probably damaging	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
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

2018-06-22