Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Arfrp1'

552500

Institutional Source

Beutler Lab

Gene Symbol

Arfrp1

Ensembl Gene

ENSMUSG00000038671

Gene Name

ADP-ribosylation factor related protein 1

Synonyms

1500006I01Rik

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180999483-181007197 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 181001344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 177 (R177*)

Ref Sequence

ENSEMBL: ENSMUSP00000104436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108808] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000127988] [ENSMUST00000148252] [ENSMUST00000170190] [ENSMUST00000183499] [ENSMUST00000185118]

AlphaFold

Q8BXL7

Predicted Effect

probably benign
Transcript: ENSMUST00000048608

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054622

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1075	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098971

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1036	1053	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108808
AA Change: R177*

SMART Domains

Protein: ENSMUSP00000104436
Gene: ENSMUSG00000038671
AA Change: R177*

Domain	Start	End	E-Value	Type
ARF	1	191	1.71e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108814

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1069	1086	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108815

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1030	1047	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127988
AA Change: R177*

SMART Domains

Protein: ENSMUSP00000122066
Gene: ENSMUSG00000038671
AA Change: R177*

Domain	Start	End	E-Value	Type
ARF	1	191	1.71e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133856

Predicted Effect

probably benign
Transcript: ENSMUST00000134651

Predicted Effect

probably benign
Transcript: ENSMUST00000137700

Predicted Effect

probably benign
Transcript: ENSMUST00000148252

SMART Domains

Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
Pfam:DEAD_2	1	88	1.3e-33	PFAM
HELICc	379	533	1.07e-62	SMART
low complexity region	858	875	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170190
AA Change: R130*

SMART Domains

Protein: ENSMUSP00000126387
Gene: ENSMUSG00000038671
AA Change: R130*

Domain	Start	End	E-Value	Type
Pfam:Miro	1	90	1.2e-9	PFAM
Pfam:Arf	1	140	8.5e-38	PFAM
Pfam:Gtr1_RagA	2	110	2.2e-6	PFAM
Pfam:SRPRB	4	118	6e-8	PFAM
Pfam:Ras	4	142	2.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183499

SMART Domains

Protein: ENSMUSP00000138941
Gene: ENSMUSG00000038671

Domain	Start	End	E-Value	Type
Pfam:Arf	4	61	4.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185118

SMART Domains

Protein: ENSMUSP00000139211
Gene: ENSMUSG00000038671

Domain	Start	End	E-Value	Type
Pfam:Arf	4	120	1.6e-30	PFAM
Pfam:SRPRB	15	116	6.6e-8	PFAM
Pfam:Ras	19	116	2.1e-9	PFAM
Pfam:Miro	19	117	7.3e-12	PFAM
Pfam:MMR_HSR1	19	117	1.2e-7	PFAM
Pfam:Gtr1_RagA	19	119	5.5e-9	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: The gene encodes a membrane-associated GTPase that is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) genes. It plays an essential role in Golgi function controlling recruitment of GRIP domain proteins and ARL1 to the trans-Golgi and trans-Golgi to plasma membrane trafficking of cell surface proteins such as E-cadherin. Deletion of this gene in mice leads to embryonic lethality during early gastrulation, which is at least partly caused by the disruption of E-cadherin trafficking to the cell surface and therefore lack of sufficient cell-cell adhesion in the embryo. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality and abnormal development of embryonic tissues. Mutant embryos display an abnormal egg cylinder and lack the ectoplacental and exocoelomic cavities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	probably damaging	Het

Other mutations in Arfrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1290:Arfrp1	UTSW	2	181,006,397 (GRCm39)	critical splice donor site	probably null
R2152:Arfrp1	UTSW	2	181,001,487 (GRCm39)	missense	probably benign
R5235:Arfrp1	UTSW	2	181,001,298 (GRCm39)	missense	probably benign	0.00
R5479:Arfrp1	UTSW	2	181,006,191 (GRCm39)	missense	probably damaging	0.98
R5614:Arfrp1	UTSW	2	181,001,236 (GRCm39)	utr 3 prime	probably benign
R7414:Arfrp1	UTSW	2	181,001,307 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGAACAGACAAAGGCAGCTC -3'
(R):5'- GGGTGATTGACTATGGCCATC -3'

Sequencing Primer
(F):5'- TCAACCCCCAGTGTCAGTAGG -3'
(R):5'- GGAATGTTCCTCAGAGTCTCAC -3'

Posted On

2019-05-15