Mutagenetix > Incidental Mutation

Incidental Mutation 'R7465:Ehbp1'

578714

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

KIAA0903-like, Flj21950

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R7465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22005828-22342292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22138001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 386 (V386A)

Ref Sequence

ENSEMBL: ENSMUSP00000105191 (fasta)

Gene Model

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

AlphaFold

Q69ZW3

Predicted Effect

probably benign
Transcript: ENSMUST00000045167
AA Change: V361A

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

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: V361A

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: V386A

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

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: V386A

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: V361A

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

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: V361A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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
Agtr1a	A	T	13: 30,381,981	D343V	probably benign	Het
Anks1	G	A	17: 28,054,323	R972Q	possibly damaging	Het
Atp2a2	T	C	5: 122,461,700	K543E	probably benign	Het
Atp8b5	G	A	4: 43,271,269	V4I	probably benign	Het
Bcar3	A	T	3: 122,523,230	N617Y	probably benign	Het
Blm	A	G	7: 80,513,115	S163P	probably benign	Het
Cbx3	A	G	6: 51,478,530	D87G	probably benign	Het
Celsr1	A	G	15: 86,033,392	S127P	probably benign	Het
Cndp1	A	T	18: 84,619,541	M356K	probably damaging	Het
Cnn2	G	A	10: 79,992,527	E113K	probably damaging	Het
Col17a1	T	A	19: 47,668,105	R573*	probably null	Het
Cttnbp2	T	A	6: 18,501,992	E49V	probably damaging	Het
Dynlrb2	T	A	8: 116,514,957	V80E	possibly damaging	Het
Elfn1	C	T	5: 139,972,087	P282L	probably benign	Het
Fam69a	T	C	5: 107,909,684	D336G	probably damaging	Het
Fan1	G	A	7: 64,353,638	T812I	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat1	G	A	8: 45,044,152	V4225I	probably benign	Het
Frem1	A	G	4: 82,914,835	C1873R	probably benign	Het
Fsd1l	T	C	4: 53,647,755	I66T	probably benign	Het
Gabrr1	C	A	4: 33,146,970	D52E	probably benign	Het
Il18rap	T	C	1: 40,543,089	L390P	probably damaging	Het
Il27ra	T	A	8: 84,039,612	D181V	probably benign	Het
Irgq	C	A	7: 24,534,409	H558Q	probably damaging	Het
Itsn2	C	T	12: 4,706,983	Q1358*	probably null	Het
Kmt2c	C	T	5: 25,302,849	G3197S	probably damaging	Het
Lrrk2	A	G	15: 91,767,340	Y1733C	probably damaging	Het
Mapk7	G	A	11: 61,490,453	A510V	probably damaging	Het
Mtch1	A	T	17: 29,332,724	C385S	probably benign	Het
Nfib	A	G	4: 82,353,521		probably null	Het
Nostrin	C	T	2: 69,185,507	T448M	possibly damaging	Het
Olfr1066	A	G	2: 86,455,806	V155A	probably benign	Het
Olfr1255	T	C	2: 89,816,536	L64P	probably damaging	Het
Olfr1436	T	C	19: 12,298,437	I232V	probably benign	Het
Olfr1441	T	A	19: 12,423,145	Y279N	probably damaging	Het
Olfr533	T	A	7: 140,466,798	V199D	probably damaging	Het
Olfr670	A	G	7: 104,959,917	Y272H	probably benign	Het
Pcdha2	T	C	18: 36,940,330	V338A	probably damaging	Het
Pcdhgc3	A	G	18: 37,807,745	T400A	probably benign	Het
Piezo2	C	T	18: 63,012,723	S2710N	probably benign	Het
Ppp4r1	T	A	17: 65,831,020	Y591*	probably null	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rab42	T	C	4: 132,302,614	E99G	possibly damaging	Het
Rd3l	A	T	12: 111,979,482	W188R	probably damaging	Het
Sap30bp	A	G	11: 115,951,968	D89G	probably benign	Het
Sptbn4	T	C	7: 27,366,689	T1985A	probably benign	Het
Tec	T	C	5: 72,773,880	Y247C	probably damaging	Het
Tek	G	A	4: 94,827,826		probably null	Het
Tex14	T	C	11: 87,514,430	S723P	possibly damaging	Het
Thumpd3	T	A	6: 113,047,631	L62Q	probably damaging	Het
Tlr12	A	T	4: 128,616,170	D762E	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Txndc16	T	A	14: 45,165,388	I316F	probably damaging	Het
Vamp1	T	C	6: 125,218,575	S2P	unknown	Het
Vmn1r211	T	A	13: 22,851,916	M194L	probably benign	Het
Zfp874a	T	A	13: 67,442,257	Q436L	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
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
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
R8088:Ehbp1	UTSW	11	22089572	missense	probably null
R8218:Ehbp1	UTSW	11	22096096	missense	possibly damaging	0.77
R8235:Ehbp1	UTSW	11	22239153	missense	probably damaging	1.00
R8267:Ehbp1	UTSW	11	22146562	missense	probably benign	0.02
R8318:Ehbp1	UTSW	11	22137980	missense	probably benign	0.05
R8334:Ehbp1	UTSW	11	22007170	missense	probably damaging	1.00
R8425:Ehbp1	UTSW	11	22013495	missense	probably damaging	1.00
R8439:Ehbp1	UTSW	11	22096109	missense	possibly damaging	0.79
R8493:Ehbp1	UTSW	11	22285842	start gained	probably benign
R8745:Ehbp1	UTSW	11	22169064	missense	possibly damaging	0.78
R8824:Ehbp1	UTSW	11	22232053	missense	probably damaging	0.98
R8964:Ehbp1	UTSW	11	22151154	nonsense	probably null
R8987:Ehbp1	UTSW	11	22053531	missense	probably damaging	1.00
R9144:Ehbp1	UTSW	11	22068463	missense	probably damaging	1.00
R9187:Ehbp1	UTSW	11	22151184	missense	probably damaging	0.99
R9448:Ehbp1	UTSW	11	22137881	missense	probably benign
R9549:Ehbp1	UTSW	11	22062788	missense	probably benign	0.44
R9612:Ehbp1	UTSW	11	22169124	missense	probably damaging	0.99
R9645:Ehbp1	UTSW	11	22101052	missense	probably damaging	1.00
R9678:Ehbp1	UTSW	11	22151108	missense	possibly damaging	0.89
R9745:Ehbp1	UTSW	11	22146692	missense	probably benign	0.19
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'- AAGTGAGCACCTTTCCAGC -3'
(R):5'- GTCAGTTTCCTAAGGTTCTACATACAG -3'

Sequencing Primer
(F):5'- TGCCCTGTCTCCAAGAGAATATATC -3'
(R):5'- GGTTCTACATACAGTCATTGAACTTG -3'

Posted On

2019-10-07