Mutagenetix > Incidental Mutation

Incidental Mutation 'R5521:Reps1'

431560

Institutional Source

Beutler Lab

Gene Symbol

Reps1

Ensembl Gene

ENSMUSG00000019854

Gene Name

RalBP1 associated Eps domain containing protein

Synonyms

MMRRC Submission

043080-MU

Accession Numbers

Essential gene?

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

Stock #

R5521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17931609-18000903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17979982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 114 (S114P)

Gene Model

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

AlphaFold

O54916

Predicted Effect

probably benign
Transcript: ENSMUST00000126390
AA Change: S406P

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: S406P

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 damaging
Transcript: ENSMUST00000150029
AA Change: S392P

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

SMART Domains

Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: S392P

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
AA Change: S406P

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: S406P

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: ENSMUST00000155892
AA Change: S114P

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

SMART Domains

Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: S114P

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
AA Change: S406P

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: S406P

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

unknown
Transcript: ENSMUST00000216576
AA Change: S8P

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,190,980 (GRCm39)		probably benign	Het
Abhd14a	G	T	9: 106,321,033 (GRCm39)	D107E	probably damaging	Het
Acat1	T	A	9: 53,494,807 (GRCm39)	K362*	probably null	Het
Adad2	T	A	8: 120,339,528 (GRCm39)	S3R	probably benign	Het
Adcy8	C	A	15: 64,687,199 (GRCm39)	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,567,508 (GRCm39)	S5222T	probably benign	Het
Ankk1	A	T	9: 49,331,748 (GRCm39)	M182K	probably benign	Het
Apba1	C	T	19: 23,870,957 (GRCm39)	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,649,694 (GRCm39)	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,643,093 (GRCm39)	T118I	possibly damaging	Het
Cenpe	T	C	3: 134,974,826 (GRCm39)	S2329P	probably damaging	Het
Chil4	A	G	3: 106,111,013 (GRCm39)	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,374,670 (GRCm39)	S390A	probably benign	Het
Dars1	T	C	1: 128,301,710 (GRCm39)	D308G	probably benign	Het
Dlec1	A	C	9: 118,972,469 (GRCm39)	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 69,897,233 (GRCm39)	E312K	probably damaging	Het
Fchsd1	T	C	18: 38,099,537 (GRCm39)	H219R	probably damaging	Het
Foxd4	A	C	19: 24,877,007 (GRCm39)	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970 (GRCm39)	F72I	probably damaging	Het
Gm5414	T	C	15: 101,536,422 (GRCm39)	I68V	probably benign	Het
Gmip	C	T	8: 70,270,049 (GRCm39)	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,516,151 (GRCm39)	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,311,804 (GRCm39)	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,237,597 (GRCm39)	D48G	probably benign	Het
Il3	G	A	11: 54,157,958 (GRCm39)	T40M	possibly damaging	Het
Ing2	T	C	8: 48,122,248 (GRCm39)	E100G	probably damaging	Het
Itpr3	C	A	17: 27,326,308 (GRCm39)	H1359Q	probably benign	Het
Lama1	T	A	17: 68,087,889 (GRCm39)	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,288,302 (GRCm39)	G579W	probably damaging	Het
Mapk6	G	A	9: 75,300,598 (GRCm39)		probably benign	Het
Mapk8ip2	C	T	15: 89,343,007 (GRCm39)	R616W	probably damaging	Het
Mc5r	T	A	18: 68,472,748 (GRCm39)	L369H	possibly damaging	Het
Meis1	T	C	11: 18,938,260 (GRCm39)		probably benign	Het
Mmp8	A	G	9: 7,560,644 (GRCm39)	K107R	probably benign	Het
Mn1	C	T	5: 111,569,635 (GRCm39)	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,291,422 (GRCm39)	L1172P	probably damaging	Het
Nek9	C	T	12: 85,374,219 (GRCm39)	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,021,190 (GRCm39)	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020 (GRCm38)		noncoding transcript	Het
Oit3	G	T	10: 59,271,736 (GRCm39)	A207E	probably benign	Het
Or13j1	A	T	4: 43,705,788 (GRCm39)	M260K	possibly damaging	Het
Or14a257	A	T	7: 86,137,839 (GRCm39)	C307S	probably benign	Het
Or4d2b	A	T	11: 87,780,545 (GRCm39)	M59K	probably damaging	Het
Or5w16	A	G	2: 87,577,406 (GRCm39)	I289V	probably benign	Het
Pde4c	T	C	8: 71,200,031 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,438 (GRCm39)	E356G	probably benign	Het
Pramel13	A	G	4: 144,122,541 (GRCm39)	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,821,303 (GRCm39)		noncoding transcript	Het
Ptpn13	T	G	5: 103,649,294 (GRCm39)	F232L	probably benign	Het
Scarf2	T	A	16: 17,621,466 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,498,218 (GRCm39)		probably benign	Het
Secisbp2l	A	T	2: 125,594,897 (GRCm39)	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,873,833 (GRCm39)	T385S	probably benign	Het
Slc4a1	G	A	11: 102,244,092 (GRCm39)	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,677,896 (GRCm39)	E353V	probably damaging	Het
Thap2	T	A	10: 115,208,665 (GRCm39)	K152*	probably null	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
V1ra8	T	A	6: 90,180,036 (GRCm39)	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,320,743 (GRCm39)	Y30C	probably benign	Het
Vmn2r60	C	A	7: 41,845,049 (GRCm39)	T804K	probably damaging	Het
Vmn2r68	A	T	7: 84,882,926 (GRCm39)	D275E	probably benign	Het
Vps13c	A	G	9: 67,858,721 (GRCm39)	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,385,430 (GRCm39)	P507Q	probably damaging	Het
Zfp120	A	T	2: 149,959,499 (GRCm39)	Y274*	probably null	Het
Zfp780b	C	A	7: 27,674,173 (GRCm39)		probably null	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
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
R8507:Reps1	UTSW	10	17,970,218 (GRCm39)	missense	probably damaging	0.97
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'- CGTGAACAGTTTGGGATCCATC -3'
(R):5'- TGTGATGTGCTGGACGAATC -3'

Sequencing Primer
(F):5'- GGGAACTTTCTGTGTCTACC -3'
(R):5'- ATGTGCTGGACGAATCCTATG -3'

Posted On

2016-10-05