Mutagenetix > Incidental Mutations

Incidental Mutation 'R6025:Ehbp1'

479986

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

KIAA0903-like, Flj21950

MMRRC Submission

044197-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22005828-22342292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22239156 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 82 (V82E)

Ref Sequence

ENSEMBL: ENSMUSP00000136697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000134293] [ENSMUST00000180360]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045167
AA Change: V82E

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

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: V82E

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	165	3.8e-32	PFAM
Blast:DUF3585	176	285	7e-6	BLAST
low complexity region	332	343	N/A	INTRINSIC
low complexity region	374	392	N/A	INTRINSIC
low complexity region	411	422	N/A	INTRINSIC
CH	430	528	1.42e-15	SMART
Blast:CH	757	826	3e-12	BLAST
low complexity region	829	850	N/A	INTRINSIC
low complexity region	883	898	N/A	INTRINSIC
DUF3585	1043	1187	4.25e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109563
AA Change: V82E

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

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: V82E

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	165	1.3e-29	PFAM
Blast:DUF3585	176	285	7e-6	BLAST
low complexity region	357	368	N/A	INTRINSIC
low complexity region	399	417	N/A	INTRINSIC
low complexity region	436	447	N/A	INTRINSIC
CH	455	553	1.42e-15	SMART
Blast:CH	782	851	3e-12	BLAST
low complexity region	854	875	N/A	INTRINSIC
low complexity region	908	923	N/A	INTRINSIC
DUF3585	1068	1212	4.25e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134293
AA Change: V82E

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

SMART Domains

Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: V82E

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	165	3.5e-33	PFAM
low complexity region	185	205	N/A	INTRINSIC
Blast:DUF3585	206	250	4e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137594

Predicted Effect

probably damaging
Transcript: ENSMUST00000180360
AA Change: V82E

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

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: V82E

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	165	3.8e-32	PFAM
Blast:DUF3585	176	285	7e-6	BLAST
low complexity region	332	343	N/A	INTRINSIC
low complexity region	374	392	N/A	INTRINSIC
low complexity region	411	422	N/A	INTRINSIC
CH	430	528	1.42e-15	SMART
Blast:CH	757	826	3e-12	BLAST
low complexity region	829	850	N/A	INTRINSIC
low complexity region	883	898	N/A	INTRINSIC
DUF3585	1043	1187	4.25e-61	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,210,313		probably null	Het
Acvr1b	C	A	15: 101,194,975	D166E	probably benign	Het
Adgra2	T	C	8: 27,114,463	I522T	probably damaging	Het
Adgre4	C	T	17: 55,792,013	S173L	probably benign	Het
Akap9	A	T	5: 4,032,801	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,710,464	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,541,575		probably null	Het
Chd6	T	C	2: 160,965,582	N1904S	probably benign	Het
Clstn3	A	T	6: 124,431,664	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,828,102	D155V	probably damaging	Het
Dct	T	C	14: 118,036,464	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,193,691		probably null	Het
Dgkz	T	C	2: 91,945,910	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,301,851	S249P	possibly damaging	Het
Fam71e2	T	A	7: 4,758,144	D523V	probably benign	Het
Fcho1	A	T	8: 71,712,573		probably null	Het
Ifi213	T	A	1: 173,595,234	N22Y	probably damaging	Het
Kcnq1	T	A	7: 143,106,433		probably benign	Het
Kif7	T	A	7: 79,704,640	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,729,384	L206*	probably null	Het
Lonp2	G	T	8: 86,713,373	G247V	probably damaging	Het
Ly75	T	C	2: 60,375,962	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,224,526	T224K	probably benign	Het
Mcm9	T	C	10: 53,615,977	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,862,797	I322N	probably damaging	Het
Nanog	G	A	6: 122,713,391	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633	L638M	probably benign	Het
Nelfcd	T	C	2: 174,426,818	V538A	probably damaging	Het
Olfr124	T	G	17: 37,805,421	I92S	probably damaging	Het
Olfr1447	T	A	19: 12,901,670	T37S	probably benign	Het
Olfr393	A	T	11: 73,847,919	S69T	probably benign	Het
Olfr69	T	C	7: 103,768,209	I63V	probably benign	Het
Phf24	G	A	4: 42,938,780		probably null	Het
Pigz	T	C	16: 31,945,710	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,492,318	E321G	probably damaging	Het
Plcb3	G	A	19: 6,956,179	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057	V34A	probably benign	Het
Prkar2b	A	G	12: 32,060,856	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,639,669	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Setbp1	A	T	18: 78,859,240	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,374,828	A389V	probably damaging	Het
Slc2a1	A	T	4: 119,136,342	T459S	possibly damaging	Het
Spi1	T	C	2: 91,114,340	L135P	probably benign	Het
Sspo	T	C	6: 48,486,786	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,800,028	T616S	probably benign	Het
Syde2	A	G	3: 146,007,141		probably null	Het
Synm	G	T	7: 67,734,938	A550D	possibly damaging	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,896,547	V891A	possibly damaging	Het
Tlx1	A	T	19: 45,155,974	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,205,523	Y191*	probably null	Het
Tmem17	A	C	11: 22,518,659	*199C	probably null	Het
Tns3	A	T	11: 8,492,578	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,115,960	V538A	probably benign	Het
Unc80	A	G	1: 66,695,568	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,360,123	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,065,208	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,829,545	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,950,909	R230Q	probably damaging	Het

Other mutations in Ehbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ehbp1	APN	11	22247967	splice site	probably benign
IGL00786:Ehbp1	APN	11	22100460	missense	possibly damaging	0.79
IGL01308:Ehbp1	APN	11	22138022	missense	probably damaging	1.00
IGL01322:Ehbp1	APN	11	22089636	missense	probably damaging	1.00
IGL01590:Ehbp1	APN	11	22095611	missense	possibly damaging	0.91
IGL01611:Ehbp1	APN	11	22172883	missense	probably damaging	0.98
IGL01636:Ehbp1	APN	11	22089584	missense	probably benign	0.03
IGL01728:Ehbp1	APN	11	22101115	missense	probably damaging	1.00
IGL02012:Ehbp1	APN	11	22101218	missense	probably damaging	1.00
IGL02034:Ehbp1	APN	11	22285486	critical splice donor site	probably null
IGL02324:Ehbp1	APN	11	22096048	missense	probably damaging	1.00
IGL02511:Ehbp1	APN	11	22089653	missense	probably damaging	1.00
trajan	UTSW	11	22151850	missense	probably damaging	1.00
K7894:Ehbp1	UTSW	11	22089683	splice site	probably benign
PIT4418001:Ehbp1	UTSW	11	22053494	missense	probably damaging	1.00
R0218:Ehbp1	UTSW	11	22231992	splice site	probably benign
R0294:Ehbp1	UTSW	11	22095427	missense	probably benign	0.27
R0398:Ehbp1	UTSW	11	22095886	missense	probably damaging	0.99
R0420:Ehbp1	UTSW	11	22151836	missense	probably benign
R0468:Ehbp1	UTSW	11	22169184	splice site	probably benign
R0943:Ehbp1	UTSW	11	22095883	missense	probably benign	0.12
R1181:Ehbp1	UTSW	11	22062831	missense	probably benign	0.25
R1481:Ehbp1	UTSW	11	22006782	makesense	probably null
R1493:Ehbp1	UTSW	11	22006866	missense	probably damaging	1.00
R1563:Ehbp1	UTSW	11	22059231	missense	probably damaging	1.00
R1648:Ehbp1	UTSW	11	22096000	missense	probably damaging	1.00
R1656:Ehbp1	UTSW	11	22146694	missense	probably benign
R1696:Ehbp1	UTSW	11	22053441	missense	probably damaging	0.99
R1923:Ehbp1	UTSW	11	22151850	missense	probably damaging	1.00
R1950:Ehbp1	UTSW	11	22059228	missense	probably damaging	1.00
R2263:Ehbp1	UTSW	11	22095462	missense	probably benign
R2436:Ehbp1	UTSW	11	22089524	critical splice donor site	probably null
R3148:Ehbp1	UTSW	11	22100465	missense	probably damaging	1.00
R3973:Ehbp1	UTSW	11	22137867	missense	probably benign	0.00
R3974:Ehbp1	UTSW	11	22137867	missense	probably benign	0.00
R4030:Ehbp1	UTSW	11	22285498	missense	probably damaging	1.00
R4085:Ehbp1	UTSW	11	22095898	missense	possibly damaging	0.95
R4089:Ehbp1	UTSW	11	22095898	missense	possibly damaging	0.95
R4524:Ehbp1	UTSW	11	22151843	missense	probably damaging	1.00
R4641:Ehbp1	UTSW	11	22095892	missense	probably benign	0.00
R4873:Ehbp1	UTSW	11	22101164	missense	probably damaging	1.00
R4875:Ehbp1	UTSW	11	22101164	missense	probably damaging	1.00
R4914:Ehbp1	UTSW	11	22146592	missense	probably benign	0.20
R4915:Ehbp1	UTSW	11	22146592	missense	probably benign	0.20
R4916:Ehbp1	UTSW	11	22146592	missense	probably benign	0.20
R4917:Ehbp1	UTSW	11	22146592	missense	probably benign	0.20
R4918:Ehbp1	UTSW	11	22146592	missense	probably benign	0.20
R4929:Ehbp1	UTSW	11	22239169	missense	possibly damaging	0.48
R4995:Ehbp1	UTSW	11	22101073	missense	probably damaging	1.00
R5325:Ehbp1	UTSW	11	22095370	missense	possibly damaging	0.93
R5579:Ehbp1	UTSW	11	22137846	missense	probably damaging	1.00
R5979:Ehbp1	UTSW	11	22151887	missense	probably benign	0.06
R6259:Ehbp1	UTSW	11	22285684	start gained	probably benign
R6685:Ehbp1	UTSW	11	22146641	missense	probably benign	0.01
R6893:Ehbp1	UTSW	11	22014945	missense	probably damaging	1.00
R7127:Ehbp1	UTSW	11	22053529	nonsense	probably null
R7465:Ehbp1	UTSW	11	22138001	missense	probably benign
R7722:Ehbp1	UTSW	11	22089572	missense	probably null
R7724:Ehbp1	UTSW	11	22089572	missense	probably null
R7797:Ehbp1	UTSW	11	22096109	missense	possibly damaging	0.79
R7868:Ehbp1	UTSW	11	22146542	nonsense	probably null
R7951:Ehbp1	UTSW	11	22146542	nonsense	probably null
RF016:Ehbp1	UTSW	11	22146646	missense	probably benign
RF037:Ehbp1	UTSW	11	22006783	small deletion	probably benign
X0018:Ehbp1	UTSW	11	22101085	missense	probably damaging	1.00
Z1176:Ehbp1	UTSW	11	22095590	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTTTCCTACGAGTGGGATATAAGAAG -3'
(R):5'- GATCAGTAACTTTTGTTTCAGGGAG -3'

Sequencing Primer
(F):5'- TTGGTTCTTGAAGTACTGTAATGCC -3'
(R):5'- CTTTTGTTTCAGGGAGAGTATAGATC -3'

Posted On

2017-06-26