Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Reps1'

373979

Institutional Source

Beutler Lab

Gene Symbol

Reps1

Ensembl Gene

ENSMUSG00000019854

Gene Name

RalBP1 associated Eps domain containing protein

Synonyms

MMRRC Submission

042467-MU

Accession Numbers

Essential gene?

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

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17931609-18000903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17999373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 720 (I720N)

Ref Sequence

ENSEMBL: ENSMUSP00000130501 (fasta)

Gene Model

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

AlphaFold

O54916

Predicted Effect

probably damaging
Transcript: ENSMUST00000126390
AA Change: I747N

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

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: I747N

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: I706N

SMART Domains

Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: I706N

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: I657N

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

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: I657N

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: I720N

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

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: I720N

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	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
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
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'- ATGGAAGTATAAACAGTGGCCATC -3'
(R):5'- AAGTTTGGCATACTGACAGAAGC -3'

Sequencing Primer
(F):5'- TATAAACAGTGGCCATCTTGGG -3'
(R):5'- TTGGCATACTGACAGAAGCCATTG -3'

Posted On

2016-03-01