Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02105:Arfip2'

279925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arfip2

Ensembl Gene

ENSMUSG00000030881

Gene Name

ADP-ribosylation factor interacting protein 2

Synonyms

2310002N04Rik, Arfaptin 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

105283410-105289623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105288590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 14 (I14N)

Ref Sequence

ENSEMBL: ENSMUSP00000147808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000106783] [ENSMUST00000106784] [ENSMUST00000137931] [ENSMUST00000131446] [ENSMUST00000133519] [ENSMUST00000142874] [ENSMUST00000142363] [ENSMUST00000140577] [ENSMUST00000106785] [ENSMUST00000106786] [ENSMUST00000157028] [ENSMUST00000209550] [ENSMUST00000210911] [ENSMUST00000211054] [ENSMUST00000210312] [ENSMUST00000151193] [ENSMUST00000209445] [ENSMUST00000209588] [ENSMUST00000210350] [ENSMUST00000149819] [ENSMUST00000150479]

AlphaFold

Q8K221

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033171
AA Change: I14N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881
AA Change: I14N

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058333

SMART Domains

Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082963

Predicted Effect

probably damaging
Transcript: ENSMUST00000084782
AA Change: I14N

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

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881
AA Change: I14N

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	316	1.72e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106780

SMART Domains

Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106783

SMART Domains

Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106784

Predicted Effect

probably damaging
Transcript: ENSMUST00000137931
AA Change: I14N

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

SMART Domains

Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881
AA Change: I14N

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Pfam:Arfaptin	89	153	1.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131446
AA Change: I14N

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

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881
AA Change: I14N

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	316	1.72e-123	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133519
AA Change: I14N

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

SMART Domains

Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881
AA Change: I14N

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	209	5.49e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

probably benign
Transcript: ENSMUST00000106785

SMART Domains

Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	3.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106786

SMART Domains

Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	3	66	3.6e-18	PFAM
low complexity region	89	107	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000157028
AA Change: I14N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209550
AA Change: I14N

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

Predicted Effect

unknown
Transcript: ENSMUST00000210911
AA Change: I14N

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,587,374 (GRCm39)	P734H	probably damaging	Het
Asap3	G	T	4: 135,955,785 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,433 (GRCm39)		probably benign	Het
Bbs12	T	C	3: 37,374,296 (GRCm39)	L248P	probably damaging	Het
Brd3	A	T	2: 27,349,788 (GRCm39)	I255N	probably damaging	Het
Ccdc141	A	G	2: 76,879,921 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd9	T	A	8: 91,659,116 (GRCm39)	D25E	probably damaging	Het
Cobl	T	C	11: 12,199,651 (GRCm39)	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,819,178 (GRCm39)	E1486V	unknown	Het
Dock2	T	C	11: 34,605,352 (GRCm39)	N256D	probably damaging	Het
Dpp3	G	A	19: 4,966,799 (GRCm39)	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892 (GRCm39)	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,387,833 (GRCm39)	D35G	probably benign	Het
Fntb	A	G	12: 76,909,263 (GRCm39)	K84E	probably benign	Het
Gfi1	A	G	5: 107,871,588 (GRCm39)		probably null	Het
Glb1l3	T	A	9: 26,729,823 (GRCm39)	I516F	probably damaging	Het
Hltf	A	G	3: 20,146,921 (GRCm39)	N560S	probably damaging	Het
Kif21b	A	G	1: 136,099,041 (GRCm39)	N1443S	probably benign	Het
Knl1	T	A	2: 118,902,289 (GRCm39)	I1330K	probably benign	Het
Krt20	C	T	11: 99,328,827 (GRCm39)	V33M	probably benign	Het
Lao1	A	G	4: 118,825,640 (GRCm39)	T487A	probably damaging	Het
Larp4	A	G	15: 99,883,952 (GRCm39)	E63G	probably damaging	Het
Lrp1	A	G	10: 127,380,448 (GRCm39)	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,775,255 (GRCm39)	I272M	probably benign	Het
Malrd1	A	T	2: 16,132,674 (GRCm39)	Q1865L	unknown	Het
Mtg1	T	C	7: 139,730,119 (GRCm39)	L305P	probably damaging	Het
Mylk4	T	A	13: 32,904,545 (GRCm39)	E427D	probably benign	Het
Myom1	G	T	17: 71,354,711 (GRCm39)		probably benign	Het
Nbeal1	A	G	1: 60,292,660 (GRCm39)	E1104G	probably damaging	Het
Obox5	A	G	7: 15,492,500 (GRCm39)	M152V	probably benign	Het
Olfm2	C	T	9: 20,583,476 (GRCm39)	V203M	probably damaging	Het
Or2l13	T	G	16: 19,306,011 (GRCm39)	L141R	probably benign	Het
Or8b12c	A	T	9: 37,715,891 (GRCm39)	H228L	possibly damaging	Het
Pf4	A	G	5: 90,921,114 (GRCm39)	S105G	probably damaging	Het
Phlpp2	T	A	8: 110,631,040 (GRCm39)	I228N	probably damaging	Het
Sall1	T	G	8: 89,759,196 (GRCm39)	S303R	probably damaging	Het
Setd5	A	G	6: 113,094,541 (GRCm39)	E486G	probably damaging	Het
Slc9a5	C	T	8: 106,076,075 (GRCm39)	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,040,653 (GRCm39)	I390N	probably damaging	Het
Trp53	T	C	11: 69,479,329 (GRCm39)	V169A	probably damaging	Het
Usp4	A	G	9: 108,262,131 (GRCm39)	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,664,417 (GRCm39)	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,174,308 (GRCm39)		probably benign	Het
Xirp1	C	T	9: 119,846,063 (GRCm39)	G940E	probably damaging	Het
Zfp407	A	T	18: 84,580,845 (GRCm39)	C89*	probably null	Het

Other mutations in Arfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03192:Arfip2	APN	7	105,287,150 (GRCm39)	missense	probably damaging	1.00
IGL03299:Arfip2	APN	7	105,287,150 (GRCm39)	missense	probably damaging	1.00
R0096:Arfip2	UTSW	7	105,287,437 (GRCm39)	missense	probably damaging	1.00
R0121:Arfip2	UTSW	7	105,285,578 (GRCm39)	missense	probably damaging	1.00
R0130:Arfip2	UTSW	7	105,288,205 (GRCm39)	unclassified	probably benign
R0152:Arfip2	UTSW	7	105,286,430 (GRCm39)	missense	probably damaging	1.00
R0317:Arfip2	UTSW	7	105,286,430 (GRCm39)	missense	probably damaging	1.00
R2172:Arfip2	UTSW	7	105,287,195 (GRCm39)	missense	probably damaging	1.00
R4419:Arfip2	UTSW	7	105,288,270 (GRCm39)	missense	probably damaging	1.00
R4926:Arfip2	UTSW	7	105,287,151 (GRCm39)	missense	probably damaging	1.00
R5394:Arfip2	UTSW	7	105,286,183 (GRCm39)	nonsense	probably null
R5637:Arfip2	UTSW	7	105,286,370 (GRCm39)	missense	probably damaging	1.00
R8967:Arfip2	UTSW	7	105,286,341 (GRCm39)	missense	probably damaging	1.00
R9562:Arfip2	UTSW	7	105,286,079 (GRCm39)	missense	possibly damaging	0.68
Z1088:Arfip2	UTSW	7	105,286,449 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16