Mutagenetix > Incidental Mutation

Incidental Mutation 'R1290:Arfrp1'

150750

Institutional Source

Beutler Lab

Gene Symbol

Arfrp1

Ensembl Gene

ENSMUSG00000038671

Gene Name

ADP-ribosylation factor related protein 1

Synonyms

1500006I01Rik

MMRRC Submission

039356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1290 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180999483-181007197 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 181006397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029105] [ENSMUST00000108807] [ENSMUST00000108808] [ENSMUST00000116366] [ENSMUST00000127988] [ENSMUST00000127988] [ENSMUST00000183499] [ENSMUST00000185118] [ENSMUST00000170190]

AlphaFold

Q8BXL7

Predicted Effect

probably benign
Transcript: ENSMUST00000029105

SMART Domains

Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000048269

Predicted Effect

probably benign
Transcript: ENSMUST00000108807

SMART Domains

Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108808

SMART Domains

Protein: ENSMUSP00000104436
Gene: ENSMUSG00000038671

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116366

SMART Domains

Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127988

SMART Domains

Protein: ENSMUSP00000122066
Gene: ENSMUSG00000038671

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

Predicted Effect

probably null
Transcript: ENSMUST00000127988

SMART Domains

Protein: ENSMUSP00000122066
Gene: ENSMUSG00000038671

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152580

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152334

Predicted Effect

probably benign
Transcript: ENSMUST00000170190

SMART Domains

Protein: ENSMUSP00000126387
Gene: ENSMUSG00000038671

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Borcs5	A	G	6: 134,621,331 (GRCm39)	D34G	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efl1	T	C	7: 82,320,936 (GRCm39)	V123A	probably damaging	Het
Exd2	T	A	12: 80,531,100 (GRCm39)	L99Q	probably benign	Het
Fnip2	T	C	3: 79,373,000 (GRCm39)	D1026G	probably damaging	Het
Gprin3	A	G	6: 59,331,449 (GRCm39)	F286S	possibly damaging	Het
Gramd1b	A	G	9: 40,228,117 (GRCm39)		probably null	Het
Ints1	A	T	5: 139,757,165 (GRCm39)	L417*	probably null	Het
Iqgap2	A	T	13: 95,805,021 (GRCm39)	V845E	probably damaging	Het
Kcnh3	G	A	15: 99,125,001 (GRCm39)		probably null	Het
Mbd1	T	C	18: 74,402,557 (GRCm39)	S20P	possibly damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Mmp16	A	T	4: 18,051,725 (GRCm39)	N238I	probably damaging	Het
Neurod2	A	T	11: 98,218,114 (GRCm39)	V350E	possibly damaging	Het
P3h2	C	T	16: 25,805,953 (GRCm39)	E297K	probably damaging	Het
Pcdhb1	A	G	18: 37,398,283 (GRCm39)	H78R	possibly damaging	Het
Slc22a14	A	C	9: 119,007,518 (GRCm39)	L297R	probably damaging	Het
Slc22a8	G	A	19: 8,587,275 (GRCm39)	G445D	probably damaging	Het
Spink5	A	G	18: 44,140,778 (GRCm39)	D659G	probably damaging	Het
St6gal1	A	G	16: 23,140,411 (GRCm39)	Q194R	probably benign	Het
Tas2r104	A	T	6: 131,661,808 (GRCm39)	C300*	probably null	Het
Ttc6	G	A	12: 57,707,199 (GRCm39)	S702N	probably benign	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Zfyve28	A	T	5: 34,356,145 (GRCm39)	D785E	probably benign	Het

Other mutations in Arfrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7129:Arfrp1	UTSW	2	181,001,344 (GRCm39)	nonsense	probably null
R7414:Arfrp1	UTSW	2	181,001,307 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ACCTTTACACACAAGGTTCCAGCTC -3'
(R):5'- CCGCGAGGCTACACATTTGAAAAC -3'

Sequencing Primer
(F):5'- GGTGATTTTGGATAGACTCATCCCC -3'
(R):5'- GGCTACACATTTGAAAACTAGCAG -3'

Posted On

2014-01-29