Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Reps1'

544218

Institutional Source

Beutler Lab

Gene Symbol

Reps1

Ensembl Gene

ENSMUSG00000019854

Gene Name

RalBP1 associated Eps domain containing protein

Synonyms

MMRRC Submission

045102-MU

Accession Numbers

Essential gene?

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

Stock #

R6996 (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 A at 17969603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 235 (D235E)

Ref Sequence

ENSEMBL: ENSMUSP00000130501 (fasta)

Gene Model

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

AlphaFold

O54916

Predicted Effect

probably damaging
Transcript: ENSMUST00000126390
AA Change: D235E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: D235E

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: D221E

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: D235E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: D235E

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

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 damaging
Transcript: ENSMUST00000164556
AA Change: D235E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: D235E

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	probably benign	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
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'- ACATGTCAGTGCACTGCAATC -3'
(R):5'- ACATAGTAGAACATTCCGCGGG -3'

Sequencing Primer
(F):5'- TGAGTCAGTATGCTCCTCC -3'
(R):5'- TCCGCGGGTAACAGACGTTTAG -3'

Posted On

2019-05-13