Mutagenetix > Incidental Mutation

Incidental Mutation 'R1181:Ehbp1'

101592

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

MMRRC Submission

039253-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R1181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22012831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 902 (V902I)

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: V902I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: V902I

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: V927I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: V927I

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: V902I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: V902I

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

0.0608

Coding Region Coverage

1x: 99.3%
3x: 97.9%
10x: 93.9%
20x: 84.2%

Validation Efficiency

100% (52/52)

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
Actn3	T	A	19: 4,922,638 (GRCm39)	Q64L	probably benign	Het
Ankrd12	T	C	17: 66,349,569 (GRCm39)	N88S	probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Bnipl	C	A	3: 95,152,960 (GRCm39)		probably null	Het
Bod1	T	C	11: 31,616,943 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,328 (GRCm39)	H166N	probably damaging	Het
Cdr2l	T	A	11: 115,285,005 (GRCm39)	I447N	probably damaging	Het
Cped1	T	G	6: 22,215,561 (GRCm39)	I698M	probably damaging	Het
Ecm1	G	A	3: 95,642,662 (GRCm39)	H404Y	possibly damaging	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fastk	C	T	5: 24,646,729 (GRCm39)		probably null	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgf	G	C	5: 16,823,923 (GRCm39)	G707R	probably damaging	Het
Klhl5	T	C	5: 65,320,228 (GRCm39)	M594T	probably damaging	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mettl14	C	T	3: 123,167,651 (GRCm39)	G236S	probably damaging	Het
Nob1	G	A	8: 108,148,122 (GRCm39)	P107S	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2a56	T	A	6: 42,932,492 (GRCm39)	L20Q	probably benign	Het
Or52e7	T	A	7: 104,685,021 (GRCm39)	N205K	probably damaging	Het
Or52n4b	C	A	7: 108,144,509 (GRCm39)	T257N	probably benign	Het
Or5b109	C	A	19: 13,212,195 (GRCm39)	H194N	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or6c65	A	G	10: 129,604,033 (GRCm39)	I223V	probably benign	Het
Pald1	A	G	10: 61,183,366 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,784,545 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,467,446 (GRCm39)	K445R	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slfn8	T	C	11: 82,907,571 (GRCm39)	E324G	probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tas2r121	A	T	6: 132,677,132 (GRCm39)	I280N	probably damaging	Het
Tbc1d7	T	C	13: 43,306,615 (GRCm39)	I242M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Tulp3	A	T	6: 128,302,915 (GRCm39)	H301Q	possibly damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Zfp454	T	C	11: 50,764,413 (GRCm39)	K229E	probably 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
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
R2263:Ehbp1	UTSW	11	22,045,462 (GRCm39)	missense	probably benign
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'- GGCCACTCATGGAGTGCCTATAAAC -3'
(R):5'- TGCAAATTGTCCAGACCTCTGCATC -3'

Sequencing Primer
(F):5'- CTCATGGAGTGCCTATAAACTGAAAG -3'
(R):5'- GTCACTTACAACTGAGTTCTTAGC -3'

Posted On

2014-01-15