Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01322:Ehbp1'

74083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

KIAA0903-like, Flj21950

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

IGL01322

Quality Score

Status

Chromosome

Chromosomal Location

22005828-22342292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22089636 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 821 (K821N)

Ref Sequence

ENSEMBL: ENSMUSP00000105191 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045167
AA Change: K796N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: K796N

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: K821N

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

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: K821N

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: K796N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: K796N

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,439,199	L368Q	probably damaging	Het
Abca2	T	A	2: 25,446,782		probably null	Het
Ano7	T	A	1: 93,395,508	V497D	probably benign	Het
B4gat1	T	C	19: 5,040,009	Y345H	probably damaging	Het
Bckdha	T	A	7: 25,658,707	R12W	possibly damaging	Het
Bcl7c	T	A	7: 127,707,436	N93Y	probably damaging	Het
Cc2d2a	C	A	5: 43,689,003	T368K	probably benign	Het
Chek1	G	A	9: 36,718,421	Q210*	probably null	Het
Chrdl2	A	G	7: 100,017,041	Y56C	probably damaging	Het
Cspg4	T	A	9: 56,898,588	F2228I	probably damaging	Het
Dnah7a	T	C	1: 53,434,046	M3474V	probably benign	Het
Dph7	T	C	2: 24,965,617	S143P	possibly damaging	Het
Eomes	T	C	9: 118,484,830	S648P	probably benign	Het
Fam20a	A	G	11: 109,682,912	V215A	probably damaging	Het
Fer1l4	T	A	2: 156,020,339		probably null	Het
Frem2	A	G	3: 53,541,038	V2319A	probably benign	Het
Gtf3c4	T	C	2: 28,833,572	D575G	probably benign	Het
Ifit1bl2	A	G	19: 34,619,004	V404A	probably benign	Het
Kcnf1	T	C	12: 17,175,348	M291V	probably benign	Het
Klra1	T	A	6: 130,364,261	I250F	probably benign	Het
Klra4	T	A	6: 130,062,022	T136S	probably benign	Het
Mcrs1	A	T	15: 99,243,385	I399N	probably damaging	Het
Neo1	T	C	9: 58,907,085	E866G	possibly damaging	Het
Notch3	T	C	17: 32,144,471	D1206G	probably damaging	Het
Olfr1427	A	C	19: 12,099,405	V78G	probably benign	Het
Olfr1443	A	C	19: 12,680,749	I214L	probably benign	Het
Olfr290	T	A	7: 84,916,382	V201E	probably damaging	Het
Olfr299	T	A	7: 86,466,272	I287N	probably damaging	Het
Olfr479	A	G	7: 108,054,981		probably benign	Het
Olfr800	A	G	10: 129,660,126	T107A	probably benign	Het
Pnkd	A	G	1: 74,351,557	N336D	probably damaging	Het
Prag1	T	C	8: 36,103,934	V557A	probably benign	Het
Ptgfr	A	C	3: 151,835,686	S62A	probably benign	Het
Smc2	A	G	4: 52,450,842	Y220C	probably damaging	Het
Sufu	G	A	19: 46,450,943	E246K	probably damaging	Het
Sult2a1	T	A	7: 13,832,679	R124*	probably null	Het
Sult4a1	T	A	15: 84,086,616	Y196F	possibly damaging	Het
Trim15	G	A	17: 36,865,083	R191W	probably damaging	Het
Ttn	A	G	2: 76,942,975	V2361A	possibly damaging	Het
Usp16	T	C	16: 87,466,276	V122A	possibly damaging	Het
Vmn1r122	T	A	7: 21,134,111	K6N	probably benign	Het
Vmn1r34	G	A	6: 66,636,915	Q280*	probably null	Het
Vmn2r45	T	A	7: 8,481,333	H491L	possibly damaging	Het
Wdpcp	T	C	11: 21,711,949	L407P	probably damaging	Het
Zfp157	T	C	5: 138,447,578	I65T	probably benign	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
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
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
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

Posted On

2013-10-07