Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02747:Reps1'

306077

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: 0.550) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

18055861-18125155 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18123600 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 712 (S712P)

Ref Sequence

ENSEMBL: ENSMUSP00000130501 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126390
AA Change: S739P

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

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: S739P

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: ENSMUST00000144287

Predicted Effect

unknown
Transcript: ENSMUST00000150029
AA Change: S698P

SMART Domains

Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: S698P

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

noncoding transcript
Transcript: ENSMUST00000150533

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154718
AA Change: S649P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: S649P

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

probably damaging
Transcript: ENSMUST00000164556
AA Change: S712P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: S712P

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	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
IGL01606:Reps1	APN	10	18107687	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
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	intron	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
X0062:Reps1	UTSW	10	18104226	missense	probably damaging	0.99

Posted On

2015-04-16