Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Reps1'

93407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Reps1

Ensembl Gene

ENSMUSG00000019854

Gene Name

RalBP1 associated Eps domain containing protein

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

18055861-18125155 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18107687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 426 (E426G)

Ref Sequence

ENSEMBL: ENSMUSP00000123238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126390] [ENSMUST00000154718] [ENSMUST00000155284] [ENSMUST00000164556]

AlphaFold

O54916

PDB Structure

SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000126390
AA Change: E426G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: E426G

Domain	Start	End	E-Value	Type
EH	3	99	2.34e-2	SMART
low complexity region	156	175	N/A	INTRINSIC
low complexity region	205	216	N/A	INTRINSIC
low complexity region	254	265	N/A	INTRINSIC
EH	278	373	2.18e-34	SMART
low complexity region	390	406	N/A	INTRINSIC
low complexity region	545	561	N/A	INTRINSIC
low complexity region	574	599	N/A	INTRINSIC
Blast:MYSc	613	671	1e-15	BLAST
coiled coil region	750	790	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128711

Predicted Effect

probably benign
Transcript: ENSMUST00000150029

SMART Domains

Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854

Domain	Start	End	E-Value	Type
Blast:EH	2	86	5e-51	BLAST
low complexity region	143	162	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
low complexity region	241	252	N/A	INTRINSIC
EH	265	360	2.18e-34	SMART
low complexity region	377	393	N/A	INTRINSIC
low complexity region	505	521	N/A	INTRINSIC
low complexity region	534	559	N/A	INTRINSIC
Blast:MYSc	573	631	1e-15	BLAST
coiled coil region	709	749	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154718

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854

Domain	Start	End	E-Value	Type
EH	3	99	2.34e-2	SMART
low complexity region	156	175	N/A	INTRINSIC
low complexity region	205	216	N/A	INTRINSIC
low complexity region	254	265	N/A	INTRINSIC
EH	278	373	2.18e-34	SMART
low complexity region	390	406	N/A	INTRINSIC
low complexity region	484	509	N/A	INTRINSIC
Blast:MYSc	523	581	9e-16	BLAST
coiled coil region	660	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155284

SMART Domains

Protein: ENSMUSP00000119629
Gene: ENSMUSG00000019854

Domain	Start	End	E-Value	Type
Blast:EH	3	99	6e-65	BLAST
low complexity region	156	175	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000155892
AA Change: E133G

SMART Domains

Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: E133G

Domain	Start	End	E-Value	Type
EH	2	82	9.44e-21	SMART
low complexity region	99	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155959

SMART Domains

Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	47	58	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
EH	99	194	2.18e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164556

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854

Domain	Start	End	E-Value	Type
EH	3	99	2.34e-2	SMART
low complexity region	156	175	N/A	INTRINSIC
low complexity region	205	216	N/A	INTRINSIC
low complexity region	254	265	N/A	INTRINSIC
EH	278	373	2.18e-34	SMART
low complexity region	390	406	N/A	INTRINSIC
low complexity region	518	534	N/A	INTRINSIC
low complexity region	547	572	N/A	INTRINSIC
Blast:MYSc	586	644	9e-16	BLAST
coiled coil region	723	763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216576

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 a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 14,943,863	D84G	probably damaging	Het
Adat3	A	T	10: 80,607,338	I337F	probably damaging	Het
Carmil3	T	A	14: 55,493,849	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,530,707	E158G	possibly damaging	Het
Cel	T	C	2: 28,560,564	I150V	probably benign	Het
Chd5	A	G	4: 152,360,975	H441R	probably damaging	Het
Clic5	G	T	17: 44,248,746	R109L	probably benign	Het
Cpd	T	C	11: 76,812,640	M466V	probably benign	Het
Cyp39a1	T	A	17: 43,746,618		probably benign	Het
Dnah11	C	A	12: 117,983,032	A3106S	probably benign	Het
Fasn	A	C	11: 120,809,023		probably null	Het
Fat1	G	A	8: 45,023,049	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,833,853	I258T	probably benign	Het
Frem2	C	A	3: 53,653,591	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,749,486		noncoding transcript	Het
Gm5862	T	A	5: 26,019,516	T152S	probably benign	Het
Gnb3	T	A	6: 124,837,255	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Klrb1	C	A	6: 128,723,005	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,756,214	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,576,523	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,817,700	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,158,001	F1756L	probably damaging	Het
Psg28	A	C	7: 18,430,371	S139A	probably benign	Het
Ptpru	A	T	4: 131,808,481	I395N	possibly damaging	Het
Rtp4	T	A	16: 23,613,254	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,268,596	R561L	probably benign	Het
Slc29a2	T	A	19: 5,027,439	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 34,929,018	F653L	probably damaging	Het
Sulf1	G	T	1: 12,836,204	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,685,893	L602P	probably damaging	Het
Ttn	A	G	2: 76,776,790	V17963A	probably damaging	Het
Urb1	A	G	16: 90,760,459	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,697,688	R149W	probably damaging	Het

Other mutations in Reps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Reps1	APN	10	18124895	missense	probably damaging	1.00
IGL01161:Reps1	APN	10	18093895	missense	probably damaging	1.00
IGL01937:Reps1	APN	10	18093836	missense	probably benign	0.04
IGL01945:Reps1	APN	10	18093836	missense	probably benign	0.04
IGL02208:Reps1	APN	10	18119022	missense	probably damaging	1.00
IGL02335:Reps1	APN	10	18056117	critical splice donor site	probably null
IGL02706:Reps1	APN	10	18123015	splice site	probably benign
IGL02747:Reps1	APN	10	18123600	missense	probably damaging	1.00
R0554:Reps1	UTSW	10	18123119	missense	possibly damaging	0.71
R0628:Reps1	UTSW	10	18121093	missense	probably damaging	1.00
R1074:Reps1	UTSW	10	18094446	missense	probably benign	0.01
R1710:Reps1	UTSW	10	18118950	missense	possibly damaging	0.75
R1829:Reps1	UTSW	10	18107714	missense	probably damaging	1.00
R2116:Reps1	UTSW	10	18124920	missense	probably damaging	1.00
R2146:Reps1	UTSW	10	18093313	missense	probably benign
R2161:Reps1	UTSW	10	18096283	missense	probably damaging	0.99
R3704:Reps1	UTSW	10	18107680	missense	probably damaging	1.00
R4115:Reps1	UTSW	10	18104207	missense	possibly damaging	0.93
R4654:Reps1	UTSW	10	18114400	missense	probably damaging	1.00
R4856:Reps1	UTSW	10	18123625	missense	probably damaging	1.00
R4910:Reps1	UTSW	10	18107688	missense	probably damaging	1.00
R5127:Reps1	UTSW	10	18093880	missense	probably benign
R5521:Reps1	UTSW	10	18104234	missense	probably damaging	1.00
R5707:Reps1	UTSW	10	18056010	missense	probably benign	0.06
R5724:Reps1	UTSW	10	18114483	missense	possibly damaging	0.75
R6564:Reps1	UTSW	10	18122392	splice site	probably null
R6996:Reps1	UTSW	10	18093855	missense	probably damaging	1.00
R7026:Reps1	UTSW	10	18107689	missense	probably damaging	1.00
R7423:Reps1	UTSW	10	18093887	missense	possibly damaging	0.81
R8507:Reps1	UTSW	10	18094470	missense	probably damaging	0.97
R8703:Reps1	UTSW	10	18093242	missense	probably damaging	1.00
X0062:Reps1	UTSW	10	18104226	missense	probably damaging	0.99
Z1176:Reps1	UTSW	10	18123125	missense	probably damaging	0.99
Z1177:Reps1	UTSW	10	18093779	missense	probably benign	0.05
Z1177:Reps1	UTSW	10	18124924	missense	probably damaging	1.00

Posted On

2013-12-09