Mutagenetix > Incidental Mutation

Incidental Mutation 'R8507:Reps1'

655643

Institutional Source

Beutler Lab

Gene Symbol

Reps1

Ensembl Gene

ENSMUSG00000019854

Gene Name

RalBP1 associated Eps domain containing protein

Synonyms

MMRRC Submission

067843-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R8507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17931609-18000903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17970218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 272 (S272P)

Ref Sequence

ENSEMBL: ENSMUSP00000123238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126390] [ENSMUST00000154718] [ENSMUST00000155284] [ENSMUST00000164556] [ENSMUST00000216413]

AlphaFold

O54916

PDB Structure

SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000126390
AA Change: S272P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: S272P

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

SMART Domains

Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: S258P

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 damaging
Transcript: ENSMUST00000154718
AA Change: S272P

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

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: S272P

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 benign
Transcript: ENSMUST00000155892

SMART Domains

Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854
AA Change: S92P

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 damaging
Transcript: ENSMUST00000164556
AA Change: S272P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: S272P

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: ENSMUST00000216413

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,763,773 (GRCm39)	C126R	probably damaging	Het
Agpat5	G	A	8: 18,928,043 (GRCm39)	V203I	possibly damaging	Het
Ankrd12	T	A	17: 66,293,904 (GRCm39)	R510*	probably null	Het
Anxa6	C	T	11: 54,904,696 (GRCm39)	A22T	probably benign	Het
Barx2	A	T	9: 31,770,309 (GRCm39)	L73Q	probably damaging	Het
BC024139	T	C	15: 76,004,333 (GRCm39)	K702R	possibly damaging	Het
Cc2d1a	T	C	8: 84,861,605 (GRCm39)	K739R	probably benign	Het
Cdk12	A	G	11: 98,141,111 (GRCm39)	T1451A	unknown	Het
Chd7	A	G	4: 8,858,675 (GRCm39)	E2367G	probably damaging	Het
Cp	A	G	3: 20,025,193 (GRCm39)	Y384C	probably damaging	Het
Dnah14	T	A	1: 181,468,979 (GRCm39)	W1270R	probably benign	Het
Dyrk2	G	T	10: 118,696,567 (GRCm39)	S230R	probably damaging	Het
Epn3	A	T	11: 94,384,602 (GRCm39)	S290R	probably damaging	Het
Fas	C	T	19: 34,304,626 (GRCm39)	R296C	probably benign	Het
Fmnl1	A	T	11: 103,084,859 (GRCm39)	N659I	unknown	Het
Gas8	T	C	8: 124,257,777 (GRCm39)		probably null	Het
Gpr156	A	G	16: 37,768,598 (GRCm39)	T40A	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Itgal	C	T	7: 126,928,607 (GRCm39)	T1044I	probably benign	Het
Itprid2	A	G	2: 79,475,208 (GRCm39)	Q389R	probably benign	Het
Kcnip4	T	G	5: 48,639,997 (GRCm39)	D38A	possibly damaging	Het
Kcnma1	G	T	14: 23,641,706 (GRCm39)	Q216K	probably benign	Het
Kdsr	T	A	1: 106,671,400 (GRCm39)	E203V	probably null	Het
Lrp1b	T	C	2: 41,298,387 (GRCm39)	E999G		Het
Malt1	T	A	18: 65,603,594 (GRCm39)	W577R	probably damaging	Het
Mroh2b	A	C	15: 4,978,572 (GRCm39)	T1373P	probably damaging	Het
Mymk	A	G	2: 26,952,712 (GRCm39)		probably null	Het
Myo1f	T	A	17: 33,816,992 (GRCm39)	H707Q	probably benign	Het
Ncam2	C	A	16: 81,309,867 (GRCm39)	H452Q	possibly damaging	Het
Ndrg4	A	G	8: 96,404,975 (GRCm39)	M1V	probably null	Het
Nps	C	T	7: 134,874,079 (GRCm39)	S83L	probably damaging	Het
Nup155	T	A	15: 8,177,044 (GRCm39)	Y1040*	probably null	Het
Or1j15	T	C	2: 36,459,443 (GRCm39)	Y278H	probably damaging	Het
Or2ak4	C	T	11: 58,648,985 (GRCm39)	Q165*	probably null	Het
Or4f7	T	C	2: 111,645,051 (GRCm39)	T7A	probably benign	Het
Or5h22	C	T	16: 58,895,243 (GRCm39)	V67M	possibly damaging	Het
Pak1ip1	G	A	13: 41,162,770 (GRCm39)	R191Q	probably benign	Het
Pcdh17	G	A	14: 84,683,384 (GRCm39)		probably benign	Het
Pcdhgc5	G	T	18: 37,952,945 (GRCm39)	R73L	probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Plxnd1	A	T	6: 115,943,866 (GRCm39)	N1144K	probably damaging	Het
Ppp1r1b	G	T	11: 98,246,310 (GRCm39)	E133D	probably damaging	Het
Ptpn13	A	G	5: 103,705,815 (GRCm39)	E1396G	probably damaging	Het
Ric8b	T	C	10: 84,816,039 (GRCm39)	V430A	probably damaging	Het
Septin10	A	T	10: 59,012,825 (GRCm39)	N264K	possibly damaging	Het
Sgms1	A	T	19: 32,137,109 (GRCm39)	F152L	probably benign	Het
Snapc1	C	A	12: 74,011,506 (GRCm39)	F57L	probably damaging	Het
Spidr	A	G	16: 15,786,540 (GRCm39)	L401P	probably damaging	Het
Spn	C	T	7: 126,735,728 (GRCm39)	V260M	probably damaging	Het
Sptan1	G	A	2: 29,916,596 (GRCm39)	A2095T	probably damaging	Het
Tbc1d15	A	G	10: 115,038,407 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 129,605,790 (GRCm39)	F510L	probably benign	Het
Trpm5	T	A	7: 142,632,050 (GRCm39)	I920F	probably damaging	Het
Tspear	C	A	10: 77,710,898 (GRCm39)	H507N	probably benign	Het
Vmn2r108	T	A	17: 20,683,195 (GRCm39)	K670*	probably null	Het
Vmn2r75	A	T	7: 85,797,685 (GRCm39)	C709*	probably null	Het
Wdfy3	G	T	5: 102,020,767 (GRCm39)	S2494R	probably benign	Het
Zfp456	A	T	13: 67,515,108 (GRCm39)	F199L	probably damaging	Het
Zfp830	A	G	11: 82,655,529 (GRCm39)	Q111R	probably benign	Het
Znrf1	G	A	8: 112,263,842 (GRCm39)	A24T	probably damaging	Het

Other mutations in Reps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Reps1	APN	10	18,000,643 (GRCm39)	missense	probably damaging	1.00
IGL01161:Reps1	APN	10	17,969,643 (GRCm39)	missense	probably damaging	1.00
IGL01606:Reps1	APN	10	17,983,435 (GRCm39)	missense	probably damaging	1.00
IGL01937:Reps1	APN	10	17,969,584 (GRCm39)	missense	probably benign	0.04
IGL01945:Reps1	APN	10	17,969,584 (GRCm39)	missense	probably benign	0.04
IGL02208:Reps1	APN	10	17,994,770 (GRCm39)	missense	probably damaging	1.00
IGL02335:Reps1	APN	10	17,931,865 (GRCm39)	critical splice donor site	probably null
IGL02706:Reps1	APN	10	17,998,763 (GRCm39)	splice site	probably benign
IGL02747:Reps1	APN	10	17,999,348 (GRCm39)	missense	probably damaging	1.00
R0554:Reps1	UTSW	10	17,998,867 (GRCm39)	missense	possibly damaging	0.71
R0628:Reps1	UTSW	10	17,996,841 (GRCm39)	missense	probably damaging	1.00
R1074:Reps1	UTSW	10	17,970,194 (GRCm39)	missense	probably benign	0.01
R1710:Reps1	UTSW	10	17,994,698 (GRCm39)	missense	possibly damaging	0.75
R1829:Reps1	UTSW	10	17,983,462 (GRCm39)	missense	probably damaging	1.00
R2116:Reps1	UTSW	10	18,000,668 (GRCm39)	missense	probably damaging	1.00
R2146:Reps1	UTSW	10	17,969,061 (GRCm39)	missense	probably benign
R2161:Reps1	UTSW	10	17,972,031 (GRCm39)	missense	probably damaging	0.99
R3704:Reps1	UTSW	10	17,983,428 (GRCm39)	missense	probably damaging	1.00
R4115:Reps1	UTSW	10	17,979,955 (GRCm39)	missense	possibly damaging	0.93
R4654:Reps1	UTSW	10	17,990,148 (GRCm39)	missense	probably damaging	1.00
R4856:Reps1	UTSW	10	17,999,373 (GRCm39)	missense	probably damaging	1.00
R4910:Reps1	UTSW	10	17,983,436 (GRCm39)	missense	probably damaging	1.00
R5127:Reps1	UTSW	10	17,969,628 (GRCm39)	missense	probably benign
R5521:Reps1	UTSW	10	17,979,982 (GRCm39)	missense	probably damaging	1.00
R5707:Reps1	UTSW	10	17,931,758 (GRCm39)	missense	probably benign	0.06
R5724:Reps1	UTSW	10	17,990,231 (GRCm39)	missense	possibly damaging	0.75
R6564:Reps1	UTSW	10	17,998,140 (GRCm39)	splice site	probably null
R6996:Reps1	UTSW	10	17,969,603 (GRCm39)	missense	probably damaging	1.00
R7026:Reps1	UTSW	10	17,983,437 (GRCm39)	missense	probably damaging	1.00
R7423:Reps1	UTSW	10	17,969,635 (GRCm39)	missense	possibly damaging	0.81
R8703:Reps1	UTSW	10	17,968,990 (GRCm39)	missense	probably damaging	1.00
X0062:Reps1	UTSW	10	17,979,974 (GRCm39)	missense	probably damaging	0.99
Z1176:Reps1	UTSW	10	17,998,873 (GRCm39)	missense	probably damaging	0.99
Z1177:Reps1	UTSW	10	18,000,672 (GRCm39)	missense	probably damaging	1.00
Z1177:Reps1	UTSW	10	17,969,527 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACCCGCGGAATGTTCTACTATG -3'
(R):5'- GCTTGTCAATACTGCAATGGAGC -3'

Sequencing Primer
(F):5'- CCTGACCATAACAGTATGTAGTTTGC -3'
(R):5'- ATACTGCAATGGAGCCTCTG -3'

Posted On

2020-10-20