Mutagenetix > Incidental Mutation

Incidental Mutation 'R0468:Ehbp1'

41757

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

MMRRC Submission

038668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R0468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22119184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136697 (fasta)

Gene Model

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

AlphaFold

Q69ZW3

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000134293

SMART Domains

Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302

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: ENSMUST00000136762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152372

Predicted Effect

probably benign
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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,240,084 (GRCm39)	H1298R	possibly damaging	Het
5530400C23Rik	T	C	6: 133,271,421 (GRCm39)	L155P	probably benign	Het
6820408C15Rik	A	T	2: 152,283,186 (GRCm39)	R283S	probably benign	Het
Aldh1l2	T	A	10: 83,354,542 (GRCm39)	E104D	probably benign	Het
Anxa3	T	C	5: 96,958,958 (GRCm39)	V22A	probably benign	Het
Bcl7b	T	C	5: 135,209,737 (GRCm39)	F188L	probably benign	Het
Brinp1	T	A	4: 68,681,013 (GRCm39)	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,355,511 (GRCm39)		probably benign	Het
Ccdc180	T	C	4: 45,923,271 (GRCm39)	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,075,750 (GRCm39)	L1294P	probably damaging	Het
Cltc	G	A	11: 86,595,452 (GRCm39)		probably benign	Het
Col11a1	T	C	3: 114,010,707 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,252,042 (GRCm39)	Y566F	unknown	Het
Dhx29	A	G	13: 113,099,811 (GRCm39)	Q1148R	probably benign	Het
Ehd3	A	G	17: 74,112,374 (GRCm39)	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Gm4553	C	A	7: 141,719,362 (GRCm39)	C22F	unknown	Het
Hibadh	C	T	6: 52,534,755 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,260,840 (GRCm39)	C1613Y	probably damaging	Het
Hydin	G	T	8: 111,139,855 (GRCm39)	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,511,047 (GRCm39)	M401L	probably benign	Het
Igsf8	G	A	1: 172,146,363 (GRCm39)	V454M	probably damaging	Het
Irx4	G	T	13: 73,414,839 (GRCm39)		probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn2	C	T	18: 45,692,538 (GRCm39)	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,203,630 (GRCm39)	R400H	unknown	Het
Lrp6	T	C	6: 134,462,624 (GRCm39)	T679A	possibly damaging	Het
Map9	T	C	3: 82,281,510 (GRCm39)		probably null	Het
Men1	T	A	19: 6,386,953 (GRCm39)	V5E	probably null	Het
Mettl14	T	C	3: 123,165,061 (GRCm39)	D93G	probably damaging	Het
Neb	G	T	2: 52,101,568 (GRCm39)	R4601S	probably damaging	Het
Nell1	A	G	7: 49,878,594 (GRCm39)	T272A	probably damaging	Het
Or10ag53	A	T	2: 87,082,599 (GRCm39)	N106I	probably benign	Het
Or2ak6	A	T	11: 58,592,619 (GRCm39)	I31F	probably damaging	Het
Pclo	C	A	5: 14,727,302 (GRCm39)		probably benign	Het
Pdia5	A	G	16: 35,217,877 (GRCm39)	L502P	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,192,181 (GRCm39)	C803F	probably damaging	Het
Pmfbp1	A	G	8: 110,240,600 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,139,205 (GRCm39)	Y468C	probably damaging	Het
Pxdn	G	T	12: 30,044,485 (GRCm39)	G488W	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sec31b	T	A	19: 44,506,947 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,433,478 (GRCm39)	V1333I	probably benign	Het
Slamf1	A	G	1: 171,619,939 (GRCm39)		probably benign	Het
Slc23a3	T	A	1: 75,109,874 (GRCm39)	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,338,500 (GRCm39)	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500 (GRCm39)	V449D	probably benign	Het
Srp68	A	T	11: 116,139,590 (GRCm39)	I453K	probably damaging	Het
Steap3	A	T	1: 120,162,030 (GRCm39)	V414D	probably damaging	Het
Tagln2	A	G	1: 172,333,788 (GRCm39)	N131D	probably benign	Het
Tmem132d	T	C	5: 128,346,267 (GRCm39)	Y85C	probably damaging	Het
Vcam1	A	T	3: 115,909,595 (GRCm39)	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,219,423 (GRCm39)	T306A	probably benign	Het
Zfyve1	A	T	12: 83,602,048 (GRCm39)		probably benign	Het
Zgrf1	T	A	3: 127,355,690 (GRCm39)	N305K	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
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
R2436:Ehbp1	UTSW	11	22,039,524 (GRCm39)	critical splice donor site	probably null
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'- AATGTCAGGTTCAGTGCTAACTCGG -3'
(R):5'- AGCTTTGACTGTAGCCTGTCACG -3'

Sequencing Primer
(F):5'- GTTCACACGGTTCTCGTCAT -3'
(R):5'- AAGCTTGGGGTTTCAGAGTG -3'

Posted On

2013-05-23