Mutagenetix > Incidental Mutations

Incidental Mutation 'R2263:Ehbp1'

243930

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

KIAA0903-like, Flj21950

MMRRC Submission

040263-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22005828-22342292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22095462 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 737 (N737K)

Ref Sequence

ENSEMBL: ENSMUSP00000136697 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045167
AA Change: N737K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: N737K

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
AA Change: N762K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: N762K

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: ENSMUST00000180360
AA Change: N737K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: N737K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
9130011E15Rik	A	G	19: 45,932,349		probably null	Het
Abca13	T	C	11: 9,274,702	S472P	probably benign	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,726,533	R778Q	probably benign	Het
Bdp1	T	A	13: 100,066,037	D693V	probably damaging	Het
Car12	C	A	9: 66,747,631	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col4a1	A	G	8: 11,312,586		probably benign	Het
Cryl1	G	T	14: 57,286,408	Y232*	probably null	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Eif2b4	T	C	5: 31,192,574		probably benign	Het
Fat4	T	C	3: 38,888,989	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,095,176		probably benign	Het
Fbxl3	G	T	14: 103,083,212	Y314*	probably null	Het
Fgf12	T	A	16: 28,189,611	K84*	probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Folh1	C	T	7: 86,719,765	S685N	probably benign	Het
Gm13119	A	G	4: 144,363,541	I384V	probably benign	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Hdac7	A	G	15: 97,810,851		probably null	Het
Heatr5a	A	T	12: 51,916,150	V989E	probably damaging	Het
Ikbkap	A	G	4: 56,755,298		probably null	Het
Kif12	A	G	4: 63,169,521	S242P	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Nmur2	A	T	11: 56,029,561	V286E	probably damaging	Het
Olfr1378	G	A	11: 50,969,869	V284I	possibly damaging	Het
Olfr20	T	A	11: 73,354,305	L184Q	possibly damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Prex1	A	T	2: 166,589,068		probably benign	Het
Prim1	T	A	10: 128,015,263	D5E	probably benign	Het
Rubcnl	A	T	14: 75,040,820	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,984,767	A63S	possibly damaging	Het
Shpk	G	A	11: 73,206,493		probably benign	Het
Slx4ip	T	C	2: 137,044,015	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Synrg	T	C	11: 83,977,152	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,271,888	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,241,682	A374V	probably damaging	Het
Ubqln3	A	T	7: 104,141,635	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,181	V1477E	probably benign	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Xpo5	A	G	17: 46,230,343	I769V	probably benign	Het
Zc3h14	A	T	12: 98,758,514	H252L	probably benign	Het
Zfp410	G	T	12: 84,323,020		probably null	Het
Zfp521	T	C	18: 13,846,240	E372G	possibly 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
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
R6025:Ehbp1	UTSW	11	22239156	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCACTTACTAAGTATCTGCC -3'
(R):5'- GCTTCCTTAGGCAAGAAGAGAC -3'

Sequencing Primer
(F):5'- ACTTACTAAGTATCTGCCCAGCG -3'
(R):5'- GAGAACTTGGAACTAAGTGACTTATG -3'

Posted On

2014-10-16