Mutagenetix > Incidental Mutation

Incidental Mutation 'R2436:Ehbp1'

249593

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

MMRRC Submission

040397-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R2436 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 22039524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136697 (fasta)

Gene Model

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

AlphaFold

Q69ZW3

Predicted Effect

probably null
Transcript: ENSMUST00000045167

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302

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 null
Transcript: ENSMUST00000045167

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302

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 null
Transcript: ENSMUST00000109563

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302

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 null
Transcript: ENSMUST00000109563

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302

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 null
Transcript: ENSMUST00000180360

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302

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 null
Transcript: ENSMUST00000180360

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,582,308 (GRCm39)	S277P	possibly damaging	Het
Arl6ip4	T	C	5: 124,254,662 (GRCm39)	S52P	probably benign	Het
Barx2	T	C	9: 31,824,383 (GRCm39)	H2R	probably damaging	Het
Calhm3	T	C	19: 47,140,404 (GRCm39)	T230A	probably damaging	Het
Card11	C	T	5: 140,868,117 (GRCm39)	V844M	possibly damaging	Het
Dnah6	C	T	6: 73,126,156 (GRCm39)	R1327Q	probably benign	Het
Dnai4	T	C	4: 102,923,549 (GRCm39)	I427V	probably benign	Het
Fgg	T	A	3: 82,921,496 (GRCm39)	I393N	possibly damaging	Het
Foxq1	A	T	13: 31,742,516 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,280,566 (GRCm39)	T646A	probably benign	Het
Homer3	G	A	8: 70,745,706 (GRCm39)	E324K	possibly damaging	Het
Krt80	A	G	15: 101,257,384 (GRCm39)	F183L	probably damaging	Het
Map3k21	A	T	8: 126,668,354 (GRCm39)	K647*	probably null	Het
Mcm3ap	A	G	10: 76,325,891 (GRCm39)	Y1067C	probably damaging	Het
Myh1	G	T	11: 67,104,097 (GRCm39)	Q921H	probably benign	Het
Nme8	A	G	13: 19,862,029 (GRCm39)	F200S	probably damaging	Het
Nploc4	T	C	11: 120,309,143 (GRCm39)	N153S	possibly damaging	Het
Or14c45	T	C	7: 86,176,591 (GRCm39)	F209L	probably damaging	Het
Or2ak6	T	C	11: 58,592,952 (GRCm39)	C142R	probably damaging	Het
Or4a73	A	G	2: 89,421,117 (GRCm39)	V114A	probably benign	Het
Or5k1	C	T	16: 58,617,607 (GRCm39)	V201I	probably benign	Het
Pipox	T	A	11: 77,782,943 (GRCm39)	L86F	probably damaging	Het
Polr3h	G	T	15: 81,801,406 (GRCm39)	L157I	probably benign	Het
Prex2	G	A	1: 11,336,376 (GRCm39)	V1525M	possibly damaging	Het
Rapgef2	A	T	3: 78,996,079 (GRCm39)	D561E	possibly damaging	Het
Sacs	A	T	14: 61,440,354 (GRCm39)	D800V	possibly damaging	Het
Sbsn	A	T	7: 30,451,655 (GRCm39)	L223F	possibly damaging	Het
Slc16a9	TCCCC	TCCCCC	10: 70,091,911 (GRCm39)		probably null	Het
Srrm3	G	T	5: 135,864,030 (GRCm39)	E43*	probably null	Het
Tcaf3	G	A	6: 42,570,663 (GRCm39)	A363V	probably damaging	Het
Tmem138	A	G	19: 10,552,268 (GRCm39)	F78S	probably damaging	Het
Tnfrsf17	G	A	16: 11,137,676 (GRCm39)	D138N	probably damaging	Het
Tubgcp6	C	T	15: 88,986,568 (GRCm39)	V1344I	probably benign	Het
Usp24	T	A	4: 106,266,842 (GRCm39)	L1875*	probably null	Het
Vmn2r109	C	A	17: 20,774,798 (GRCm39)	G186C	probably damaging	Het
Zfp541	A	G	7: 15,810,373 (GRCm39)	N137D	possibly damaging	Het

Other mutations in Ehbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ehbp1	APN	11	22,197,967 (GRCm39)	splice site	probably benign
IGL00786:Ehbp1	APN	11	22,050,460 (GRCm39)	missense	possibly damaging	0.79
IGL01308:Ehbp1	APN	11	22,088,022 (GRCm39)	missense	probably damaging	1.00
IGL01322:Ehbp1	APN	11	22,039,636 (GRCm39)	missense	probably damaging	1.00
IGL01590:Ehbp1	APN	11	22,045,611 (GRCm39)	missense	possibly damaging	0.91
IGL01611:Ehbp1	APN	11	22,122,883 (GRCm39)	missense	probably damaging	0.98
IGL01636:Ehbp1	APN	11	22,039,584 (GRCm39)	missense	probably benign	0.03
IGL01728:Ehbp1	APN	11	22,051,115 (GRCm39)	missense	probably damaging	1.00
IGL02012:Ehbp1	APN	11	22,051,218 (GRCm39)	missense	probably damaging	1.00
IGL02034:Ehbp1	APN	11	22,235,486 (GRCm39)	critical splice donor site	probably null
IGL02324:Ehbp1	APN	11	22,046,048 (GRCm39)	missense	probably damaging	1.00
IGL02511:Ehbp1	APN	11	22,039,653 (GRCm39)	missense	probably damaging	1.00
trajan	UTSW	11	22,101,850 (GRCm39)	missense	probably damaging	1.00
K7894:Ehbp1	UTSW	11	22,039,683 (GRCm39)	splice site	probably benign
PIT4418001:Ehbp1	UTSW	11	22,003,494 (GRCm39)	missense	probably damaging	1.00
R0218:Ehbp1	UTSW	11	22,181,992 (GRCm39)	splice site	probably benign
R0294:Ehbp1	UTSW	11	22,045,427 (GRCm39)	missense	probably benign	0.27
R0398:Ehbp1	UTSW	11	22,045,886 (GRCm39)	missense	probably damaging	0.99
R0420:Ehbp1	UTSW	11	22,101,836 (GRCm39)	missense	probably benign
R0468:Ehbp1	UTSW	11	22,119,184 (GRCm39)	splice site	probably benign
R0943:Ehbp1	UTSW	11	22,045,883 (GRCm39)	missense	probably benign	0.12
R1181:Ehbp1	UTSW	11	22,012,831 (GRCm39)	missense	probably benign	0.25
R1481:Ehbp1	UTSW	11	21,956,782 (GRCm39)	makesense	probably null
R1493:Ehbp1	UTSW	11	21,956,866 (GRCm39)	missense	probably damaging	1.00
R1563:Ehbp1	UTSW	11	22,009,231 (GRCm39)	missense	probably damaging	1.00
R1648:Ehbp1	UTSW	11	22,046,000 (GRCm39)	missense	probably damaging	1.00
R1656:Ehbp1	UTSW	11	22,096,694 (GRCm39)	missense	probably benign
R1696:Ehbp1	UTSW	11	22,003,441 (GRCm39)	missense	probably damaging	0.99
R1923:Ehbp1	UTSW	11	22,101,850 (GRCm39)	missense	probably damaging	1.00
R1950:Ehbp1	UTSW	11	22,009,228 (GRCm39)	missense	probably damaging	1.00
R2263:Ehbp1	UTSW	11	22,045,462 (GRCm39)	missense	probably benign
R3148:Ehbp1	UTSW	11	22,050,465 (GRCm39)	missense	probably damaging	1.00
R3973:Ehbp1	UTSW	11	22,087,867 (GRCm39)	missense	probably benign	0.00
R3974:Ehbp1	UTSW	11	22,087,867 (GRCm39)	missense	probably benign	0.00
R4030:Ehbp1	UTSW	11	22,235,498 (GRCm39)	missense	probably damaging	1.00
R4085:Ehbp1	UTSW	11	22,045,898 (GRCm39)	missense	possibly damaging	0.95
R4089:Ehbp1	UTSW	11	22,045,898 (GRCm39)	missense	possibly damaging	0.95
R4524:Ehbp1	UTSW	11	22,101,843 (GRCm39)	missense	probably damaging	1.00
R4641:Ehbp1	UTSW	11	22,045,892 (GRCm39)	missense	probably benign	0.00
R4873:Ehbp1	UTSW	11	22,051,164 (GRCm39)	missense	probably damaging	1.00
R4875:Ehbp1	UTSW	11	22,051,164 (GRCm39)	missense	probably damaging	1.00
R4914:Ehbp1	UTSW	11	22,096,592 (GRCm39)	missense	probably benign	0.20
R4915:Ehbp1	UTSW	11	22,096,592 (GRCm39)	missense	probably benign	0.20
R4916:Ehbp1	UTSW	11	22,096,592 (GRCm39)	missense	probably benign	0.20
R4917:Ehbp1	UTSW	11	22,096,592 (GRCm39)	missense	probably benign	0.20
R4918:Ehbp1	UTSW	11	22,096,592 (GRCm39)	missense	probably benign	0.20
R4929:Ehbp1	UTSW	11	22,189,169 (GRCm39)	missense	possibly damaging	0.48
R4995:Ehbp1	UTSW	11	22,051,073 (GRCm39)	missense	probably damaging	1.00
R5325:Ehbp1	UTSW	11	22,045,370 (GRCm39)	missense	possibly damaging	0.93
R5579:Ehbp1	UTSW	11	22,087,846 (GRCm39)	missense	probably damaging	1.00
R5979:Ehbp1	UTSW	11	22,101,887 (GRCm39)	missense	probably benign	0.06
R6025:Ehbp1	UTSW	11	22,189,156 (GRCm39)	missense	probably damaging	1.00
R6259:Ehbp1	UTSW	11	22,235,684 (GRCm39)	start gained	probably benign
R6685:Ehbp1	UTSW	11	22,096,641 (GRCm39)	missense	probably benign	0.01
R6893:Ehbp1	UTSW	11	21,964,945 (GRCm39)	missense	probably damaging	1.00
R7127:Ehbp1	UTSW	11	22,003,529 (GRCm39)	nonsense	probably null
R7465:Ehbp1	UTSW	11	22,088,001 (GRCm39)	missense	probably benign
R7722:Ehbp1	UTSW	11	22,039,572 (GRCm39)	missense	probably null
R7724:Ehbp1	UTSW	11	22,039,572 (GRCm39)	missense	probably null
R7797:Ehbp1	UTSW	11	22,046,109 (GRCm39)	missense	possibly damaging	0.79
R7868:Ehbp1	UTSW	11	22,096,542 (GRCm39)	nonsense	probably null
R8088:Ehbp1	UTSW	11	22,039,572 (GRCm39)	missense	probably null
R8218:Ehbp1	UTSW	11	22,046,096 (GRCm39)	missense	possibly damaging	0.77
R8235:Ehbp1	UTSW	11	22,189,153 (GRCm39)	missense	probably damaging	1.00
R8267:Ehbp1	UTSW	11	22,096,562 (GRCm39)	missense	probably benign	0.02
R8318:Ehbp1	UTSW	11	22,087,980 (GRCm39)	missense	probably benign	0.05
R8334:Ehbp1	UTSW	11	21,957,170 (GRCm39)	missense	probably damaging	1.00
R8425:Ehbp1	UTSW	11	21,963,495 (GRCm39)	missense	probably damaging	1.00
R8439:Ehbp1	UTSW	11	22,046,109 (GRCm39)	missense	possibly damaging	0.79
R8493:Ehbp1	UTSW	11	22,235,842 (GRCm39)	start gained	probably benign
R8745:Ehbp1	UTSW	11	22,119,064 (GRCm39)	missense	possibly damaging	0.78
R8824:Ehbp1	UTSW	11	22,182,053 (GRCm39)	missense	probably damaging	0.98
R8964:Ehbp1	UTSW	11	22,101,154 (GRCm39)	nonsense	probably null
R8987:Ehbp1	UTSW	11	22,003,531 (GRCm39)	missense	probably damaging	1.00
R9144:Ehbp1	UTSW	11	22,018,463 (GRCm39)	missense	probably damaging	1.00
R9187:Ehbp1	UTSW	11	22,101,184 (GRCm39)	missense	probably damaging	0.99
R9448:Ehbp1	UTSW	11	22,087,881 (GRCm39)	missense	probably benign
R9549:Ehbp1	UTSW	11	22,012,788 (GRCm39)	missense	probably benign	0.44
R9612:Ehbp1	UTSW	11	22,119,124 (GRCm39)	missense	probably damaging	0.99
R9645:Ehbp1	UTSW	11	22,051,052 (GRCm39)	missense	probably damaging	1.00
R9678:Ehbp1	UTSW	11	22,101,108 (GRCm39)	missense	possibly damaging	0.89
R9745:Ehbp1	UTSW	11	22,096,692 (GRCm39)	missense	probably benign	0.19
RF016:Ehbp1	UTSW	11	22,096,646 (GRCm39)	missense	probably benign
RF037:Ehbp1	UTSW	11	21,956,783 (GRCm39)	small deletion	probably benign
X0018:Ehbp1	UTSW	11	22,051,085 (GRCm39)	missense	probably damaging	1.00
Z1176:Ehbp1	UTSW	11	22,045,590 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGCAGCTAACAGCATTGCTT -3'
(R):5'- TGAAGTTTCATCCAGTATTAGGGAA -3'

Sequencing Primer
(F):5'- TAGCAATAATAACAGTGTAGTTGGTC -3'
(R):5'- GTCCTGTTAAAAAGACTGTACACC -3'

Posted On

2014-11-12