Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Ehbp1'

654170

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 #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22005828-22342292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22096109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 547 (M547V)

Ref Sequence

ENSEMBL: ENSMUSP00000105191 (fasta)

Gene Model

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

AlphaFold

Q69ZW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045167
AA Change: M522V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: M522V

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

possibly damaging
Transcript: ENSMUST00000109563
AA Change: M547V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: M547V

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

possibly damaging
Transcript: ENSMUST00000180360
AA Change: M522V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: M522V

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: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,770,701	L482S	probably damaging	Het
Abca7	A	T	10: 80,006,161	T1043S	probably benign	Het
Acadvl	T	A	11: 70,011,728	K410*	probably null	Het
Adam8	C	T	7: 139,987,849	G354D	probably benign	Het
Ahctf1	T	C	1: 179,762,610	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,274,589	Q949K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc141	T	A	2: 77,059,550	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cyp4a30b	C	A	4: 115,457,775	Q185K	probably benign	Het
Dlx2	A	T	2: 71,545,538	I147K	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Dock7	C	A	4: 99,083,029	V100F		Het
Dspp	C	A	5: 104,177,296	D508E	unknown	Het
Duox2	G	T	2: 122,298,155	T4K	probably benign	Het
Ear1	T	C	14: 43,819,247	N55D	probably damaging	Het
Echdc1	G	C	10: 29,334,246	E179Q	probably damaging	Het
Erbb2	A	G	11: 98,428,972	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,630,070	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,270,900	R398G	unknown	Het
Fsip2	G	A	2: 82,977,086	D1250N	probably benign	Het
Gdnf	G	T	15: 7,834,653	E182*	probably null	Het
Gys2	T	C	6: 142,461,195	H145R	probably benign	Het
Hcls1	A	G	16: 36,946,641	K69R	probably benign	Het
Itih5	A	G	2: 10,235,058	N332S	probably benign	Het
Kcnb2	T	A	1: 15,312,710	Y87N	probably damaging	Het
Lrriq3	A	G	3: 155,188,236	N525D	probably damaging	Het
Lsg1	A	T	16: 30,561,751	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,072	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814	Y81H	probably damaging	Het
Nup54	T	G	5: 92,425,746	N199T	probably benign	Het
Olfr1136	A	T	2: 87,693,744	I46N	probably damaging	Het
Olfr1261	C	T	2: 89,994,004	L204F	probably benign	Het
Olfr39	T	A	9: 20,286,041	L122*	probably null	Het
Olfr727	T	C	14: 50,127,147	I190T	probably benign	Het
Olfr91	A	G	17: 37,093,772	L34P	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462	F13L	possibly damaging	Het
Pih1d3	T	A	1: 31,223,268	D110E	probably damaging	Het
Plcb1	T	C	2: 135,250,052		probably null	Het
Ppfibp1	T	C	6: 147,000,950	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,055,262	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,625,556	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,955,133	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,652,833	M151I	probably benign	Het
Tarm1	G	T	7: 3,497,521	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,855,577	I47T	probably damaging	Het
Tmod3	T	C	9: 75,529,398	D85G	probably damaging	Het
Trbv14	T	C	6: 41,135,365	L32P	probably benign	Het
Trim16	T	C	11: 62,850,588	L486P	probably benign	Het
Trmt1l	T	G	1: 151,449,976	S391A	probably benign	Het
Ush2a	T	A	1: 188,850,057	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 20,846,608	A20S	probably benign	Het
Wdr76	A	G	2: 121,510,698	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,580,678	L141S	probably benign	Het
Zfp988	A	G	4: 147,332,351	D414G	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
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
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
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
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'- AACACAGAGTCATCCTGCG -3'
(R):5'- GTGTCAGTAATTTTATGTGCCCTAC -3'

Sequencing Primer
(F):5'- AGGTTCAGGCTCTCGCTTCAG -3'
(R):5'- CTCAGTGTACCGTCTGTT -3'

Posted On

2020-10-20