Mutagenetix > Incidental Mutation

Incidental Mutation 'R2263:Ehbp1'

243930

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

MMRRC Submission

040263-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22045462 bp (GRCm39)

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]

AlphaFold

Q69ZW3

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
Abca13	T	C	11: 9,224,702 (GRCm39)	S472P	probably benign	Het
Armh3	A	G	19: 45,920,788 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,737 (GRCm39)	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,654,271 (GRCm39)	R778Q	probably benign	Het
Bdp1	T	A	13: 100,202,545 (GRCm39)	D693V	probably damaging	Het
Car12	C	A	9: 66,654,913 (GRCm39)	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a1	A	G	8: 11,362,586 (GRCm39)		probably benign	Het
Cryl1	G	T	14: 57,523,865 (GRCm39)	Y232*	probably null	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Eif2b4	T	C	5: 31,349,918 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,755,298 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,943,138 (GRCm39)	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,228,248 (GRCm39)		probably benign	Het
Fbxl3	G	T	14: 103,320,648 (GRCm39)	Y314*	probably null	Het
Fgf12	T	A	16: 28,008,363 (GRCm39)	K84*	probably null	Het
Flt3	G	A	5: 147,284,873 (GRCm39)	P748L	probably benign	Het
Folh1	C	T	7: 86,368,973 (GRCm39)	S685N	probably benign	Het
Gpr65	A	T	12: 98,241,494 (GRCm39)	N49I	probably damaging	Het
Hdac7	A	G	15: 97,708,732 (GRCm39)		probably null	Het
Heatr5a	A	T	12: 51,962,933 (GRCm39)	V989E	probably damaging	Het
Kif12	A	G	4: 63,087,758 (GRCm39)	S242P	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mia3	A	G	1: 183,115,647 (GRCm39)	Y295H	probably benign	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Nmur2	A	T	11: 55,920,387 (GRCm39)	V286E	probably damaging	Het
Or1ad6	G	A	11: 50,860,696 (GRCm39)	V284I	possibly damaging	Het
Or1e1	T	A	11: 73,245,131 (GRCm39)	L184Q	possibly damaging	Het
Or51t4	T	C	7: 102,598,464 (GRCm39)	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pramel31	A	G	4: 144,090,111 (GRCm39)	I384V	probably benign	Het
Prex1	A	T	2: 166,430,988 (GRCm39)		probably benign	Het
Prim1	T	A	10: 127,851,132 (GRCm39)	D5E	probably benign	Het
Rubcnl	A	T	14: 75,278,260 (GRCm39)	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,802,631 (GRCm39)	A63S	possibly damaging	Het
Shpk	G	A	11: 73,097,319 (GRCm39)		probably benign	Het
Slx4ip	T	C	2: 136,885,935 (GRCm39)	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Synrg	T	C	11: 83,867,978 (GRCm39)	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,578,888 (GRCm39)	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,132,508 (GRCm39)	A374V	probably damaging	Het
Ubqln3	A	T	7: 103,790,842 (GRCm39)	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,327 (GRCm39)	V1477E	probably benign	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Xpo5	A	G	17: 46,541,269 (GRCm39)	I769V	probably benign	Het
Zc3h14	A	T	12: 98,724,773 (GRCm39)	H252L	probably benign	Het
Zfp410	G	T	12: 84,369,794 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,979,297 (GRCm39)	E372G	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
R0468:Ehbp1	UTSW	11	22,119,184 (GRCm39)	splice site	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
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'- TAGCCACTTACTAAGTATCTGCC -3'
(R):5'- GCTTCCTTAGGCAAGAAGAGAC -3'

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

Posted On

2014-10-16