Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Ehbp1'

92108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22122883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 146 (V146M)

Ref Sequence

ENSEMBL: ENSMUSP00000136697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000134293] [ENSMUST00000180360]

AlphaFold

Q69ZW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045167
AA Change: V146M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: V146M

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: V146M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: V146M

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: ENSMUST00000134293
AA Change: V146M

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: V146M

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	165	3.5e-33	PFAM
low complexity region	185	205	N/A	INTRINSIC
Blast:DUF3585	206	250	4e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152372

Predicted Effect

probably damaging
Transcript: ENSMUST00000180360
AA Change: V146M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: V146M

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,954,644 (GRCm39)	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Lpar6	G	T	14: 73,476,878 (GRCm39)	A280S	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Pom121	T	C	5: 135,412,526 (GRCm39)	K516E	unknown	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,436,969 (GRCm39)		probably null	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Spire2	T	C	8: 124,086,137 (GRCm39)	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	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
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
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

Posted On

2013-12-09