Mutagenetix > Incidental Mutation

Incidental Mutation 'R9549:Ehbp1'

720311

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1

Ensembl Gene

ENSMUSG00000042302

Gene Name

EH domain binding protein 1

Synonyms

Flj21950, KIAA0903-like

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R9549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21955825-22237086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22012788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 941 (D941A)

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: D916A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: D916A

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: D941A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: D941A

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: D916A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: D916A

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: 99.9%
10x: 99.5%
20x: 98.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,742,076 (GRCm39)	Y491C	probably damaging	Het
B3gnt6	G	T	7: 97,843,656 (GRCm39)	D101E	possibly damaging	Het
Bnip5	A	T	17: 29,124,647 (GRCm39)	H9Q		Het
Ccnt1	A	G	15: 98,441,574 (GRCm39)	S565P	probably damaging	Het
Crebbp	T	C	16: 3,903,111 (GRCm39)	M2043V	probably benign	Het
Fam171b	G	T	2: 83,643,199 (GRCm39)	R36L	probably damaging	Het
Fam83c	T	A	2: 155,676,672 (GRCm39)	I33L		Het
Fbxo15	T	C	18: 84,980,805 (GRCm39)	V260A	possibly damaging	Het
Fez1	G	A	9: 36,780,211 (GRCm39)	G336E	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Isoc2a	A	G	7: 4,895,058 (GRCm39)	E162G	probably damaging	Het
Lrig2	A	G	3: 104,398,191 (GRCm39)	S313P	probably damaging	Het
Lrrd1	T	A	5: 3,901,473 (GRCm39)	S593T	probably benign	Het
Lrrn1	A	G	6: 107,545,978 (GRCm39)	Y592C	probably damaging	Het
Map3k9	T	C	12: 81,771,255 (GRCm39)	T778A	probably benign	Het
Mapk14	T	A	17: 28,934,415 (GRCm39)	V102E	probably damaging	Het
Maz	A	G	7: 126,625,578 (GRCm39)	F5S	unknown	Het
Meioc	C	T	11: 102,556,550 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,271 (GRCm39)	V195A	probably benign	Het
Mlh3	T	C	12: 85,313,249 (GRCm39)	D979G	probably benign	Het
Mto1	G	A	9: 78,368,961 (GRCm39)	S541N	probably benign	Het
Mug1	G	A	6: 121,858,762 (GRCm39)	G1160E	probably damaging	Het
Nfkb2	T	A	19: 46,298,111 (GRCm39)	I496N	probably damaging	Het
Nr1h5	T	C	3: 102,848,337 (GRCm39)	D456G	probably benign	Het
Or5an11	T	A	19: 12,246,408 (GRCm39)	F271L	probably benign	Het
Paqr5	A	T	9: 61,863,543 (GRCm39)	C260S	possibly damaging	Het
Pip5k1b	C	A	19: 24,356,413 (GRCm39)	C175F	probably damaging	Het
Pkn1	T	C	8: 84,419,474 (GRCm39)	E43G	probably damaging	Het
Pld1	G	A	3: 28,125,381 (GRCm39)	E432K	possibly damaging	Het
Plekhb2	A	G	1: 34,902,552 (GRCm39)	D64G	probably benign	Het
Plekhh3	T	A	11: 101,056,015 (GRCm39)		probably null	Het
Prex2	A	T	1: 11,256,915 (GRCm39)	H1209L	probably damaging	Het
Rlf	T	C	4: 121,005,320 (GRCm39)	Y1330C	probably damaging	Het
Rmdn2	T	G	17: 79,935,339 (GRCm39)	S151A		Het
Sdk1	A	C	5: 141,940,657 (GRCm39)	D475A	possibly damaging	Het
Serpina1e	A	T	12: 103,917,243 (GRCm39)	L142Q	possibly damaging	Het
Setbp1	T	A	18: 78,902,629 (GRCm39)	D346V	probably benign	Het
Smg1	A	G	7: 117,795,254 (GRCm39)	L431P	unknown	Het
St13	G	A	15: 81,259,063 (GRCm39)	A207V	possibly damaging	Het
Thra	T	C	11: 98,653,772 (GRCm39)	I201T	probably benign	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Trpm6	C	T	19: 18,853,394 (GRCm39)	Q1805*	probably null	Het
Uxs1	A	T	1: 43,810,892 (GRCm39)	Y231*	probably null	Het
Vash1	A	T	12: 86,735,870 (GRCm39)	D252V	probably damaging	Het
Vmn1r61	A	C	7: 5,614,185 (GRCm39)	V43G	probably damaging	Het
Vmn2r1	A	G	3: 63,997,493 (GRCm39)	H383R	probably benign	Het
Vmn2r105	T	C	17: 20,448,023 (GRCm39)	N267S	probably benign	Het
Zfp445	T	C	9: 122,685,844 (GRCm39)	E232G	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
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
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'- ACTCATGGAGTGCCTATAAACTG -3'
(R):5'- TCAGACTTCAGAGTAACTGTCACTG -3'

Sequencing Primer
(F):5'- TGCCTATAAACTGAAAGTAGAGTGC -3'
(R):5'- CAGAGTAACTGTCACTGAAATATTCG -3'

Posted On

2022-07-18