Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00961:Arfip1'

27143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arfip1

Ensembl Gene

ENSMUSG00000074513

Gene Name

ADP-ribosylation factor interacting protein 1

Synonyms

D3Ertd598e, 2310030I10Rik, Arfaptin

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

IGL00961

Quality Score

Status

Chromosome

Chromosomal Location

84403400-84489932 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84405095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000116393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098990] [ENSMUST00000107687] [ENSMUST00000143514] [ENSMUST00000154148]

AlphaFold

G5E8V9

Predicted Effect

probably benign
Transcript: ENSMUST00000098990
AA Change: V325A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096588
Gene: ENSMUSG00000074513
AA Change: V325A

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	9e-10	BLAST
Arfaptin	89	316	2.08e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107687
AA Change: V350A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103315
Gene: ENSMUSG00000074513
AA Change: V350A

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	1e-9	BLAST
Arfaptin	114	341	2.08e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143514
AA Change: V357A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122964
Gene: ENSMUSG00000074513
AA Change: V357A

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	1e-9	BLAST
Arfaptin	121	348	2.08e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154148
AA Change: V236A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
AA Change: V236A

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921522P10Rik	C	A	8: 8,713,425 (GRCm39)		probably benign	Het
Arfgef3	T	A	10: 18,486,985 (GRCm39)	I1350F	probably damaging	Het
Bicc1	A	G	10: 70,796,987 (GRCm39)	I124T	probably damaging	Het
Cacnb4	T	A	2: 52,367,724 (GRCm39)	I82F	possibly damaging	Het
Card11	A	T	5: 140,885,464 (GRCm39)	M365K	probably damaging	Het
Chd2	A	G	7: 73,093,997 (GRCm39)	S1560P	probably damaging	Het
Depdc1a	T	A	3: 159,229,451 (GRCm39)	N594K	possibly damaging	Het
Dmbx1	A	T	4: 115,777,203 (GRCm39)	V215E	probably benign	Het
Farp2	A	T	1: 93,549,035 (GRCm39)	E1047V	possibly damaging	Het
Gm21759	A	T	5: 8,229,731 (GRCm39)		probably benign	Het
Gpr182	C	T	10: 127,586,559 (GRCm39)	V131I	probably benign	Het
Irx1	T	C	13: 72,108,076 (GRCm39)	D202G	probably damaging	Het
Lrp6	T	C	6: 134,484,609 (GRCm39)	D338G	probably damaging	Het
Nrxn3	A	T	12: 90,171,320 (GRCm39)	I241L	possibly damaging	Het
Parp6	A	G	9: 59,540,242 (GRCm39)	Y265C	probably damaging	Het
Prex1	G	T	2: 166,427,656 (GRCm39)	Q999K	probably damaging	Het
Rad54b	T	C	4: 11,599,699 (GRCm39)	I301T	probably damaging	Het
Rnf213	A	T	11: 119,331,669 (GRCm39)	I2294F	possibly damaging	Het
Ska3	T	C	14: 58,059,581 (GRCm39)	I81M	possibly damaging	Het
Smap1	T	C	1: 23,887,355 (GRCm39)	N308S	probably benign	Het
Stag3	A	G	5: 138,296,611 (GRCm39)	K490E	probably benign	Het
Stk11ip	C	T	1: 75,506,910 (GRCm39)	R664C	probably damaging	Het
Tmem176b	T	A	6: 48,811,004 (GRCm39)	I259F	possibly damaging	Het
Usp37	T	C	1: 74,529,314 (GRCm39)	T122A	probably benign	Het
Vmn2r7	T	C	3: 64,623,234 (GRCm39)	E453G	possibly damaging	Het

Other mutations in Arfip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Arfip1	APN	3	84,455,339 (GRCm39)	intron	probably benign
IGL02480:Arfip1	APN	3	84,455,239 (GRCm39)	critical splice donor site	probably null
R2229:Arfip1	UTSW	3	84,455,280 (GRCm39)	missense	probably damaging	1.00
R6147:Arfip1	UTSW	3	84,436,485 (GRCm39)	missense	probably benign
R9619:Arfip1	UTSW	3	84,435,081 (GRCm39)	missense	probably benign	0.02

Posted On

2013-04-17