Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Arfip2'

21609

Institutional Source

Beutler Lab

Gene Symbol

Arfip2

Ensembl Gene

ENSMUSG00000030881

Gene Name

ADP-ribosylation factor interacting protein 2

Synonyms

2310002N04Rik, Arfaptin 2

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0130 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

105634203-105640416 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 105638998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148176 (fasta)

Gene Model

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

AlphaFold

Q8K221

Predicted Effect

probably benign
Transcript: ENSMUST00000033171

SMART Domains

Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881

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 benign
Transcript: ENSMUST00000084782

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881

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 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

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

probably benign
Transcript: ENSMUST00000131446

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881

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: ENSMUST00000137931

SMART Domains

Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881

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 benign
Transcript: ENSMUST00000157028

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000133519

SMART Domains

Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881

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

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000209550

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,686,666 (GRCm38)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,809,176 (GRCm38)		probably benign	Het
Anxa9	A	G	3: 95,302,422 (GRCm38)	S129P	probably benign	Het
Apol7c	A	G	15: 77,526,362 (GRCm38)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,835,719 (GRCm38)	I88S	probably damaging	Het
Atp5mf	A	T	5: 145,188,182 (GRCm38)		probably benign	Het
Atp7b	C	T	8: 22,028,172 (GRCm38)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm38)		probably null	Het
Cd22	A	G	7: 30,869,964 (GRCm38)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,069,962 (GRCm38)	T613A	probably benign	Het
Cdcp2	C	T	4: 107,106,707 (GRCm38)		probably benign	Het
Cenpc1	A	T	5: 86,046,546 (GRCm38)	D120E	probably benign	Het
Chd3	T	A	11: 69,359,830 (GRCm38)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm38)	P568L	unknown	Het
Cped1	T	A	6: 22,121,039 (GRCm38)	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231 (GRCm38)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,921,913 (GRCm38)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771 (GRCm38)		probably benign	Het
Dcdc2a	A	T	13: 25,187,672 (GRCm38)		probably benign	Het
Dync1h1	C	A	12: 110,618,674 (GRCm38)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,881,732 (GRCm38)		probably benign	Het
Epb41l5	A	C	1: 119,549,902 (GRCm38)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,252,118 (GRCm38)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092 (GRCm38)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982 (GRCm38)	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995 (GRCm38)	T443A	probably damaging	Het
Gde1	A	T	7: 118,695,060 (GRCm38)	F63L	probably benign	Het
Gjc3	A	G	5: 137,957,940 (GRCm38)	S28P	probably benign	Het
Gm10250	G	A	15: 5,120,991 (GRCm38)		probably null	Het
Hp1bp3	C	T	4: 138,237,209 (GRCm38)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,833,966 (GRCm38)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,424,864 (GRCm38)	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508 (GRCm38)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,690,815 (GRCm38)	L190P	probably damaging	Het
Mki67	T	A	7: 135,696,459 (GRCm38)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,309,008 (GRCm38)	I272F	probably damaging	Het
Myom1	A	T	17: 71,045,755 (GRCm38)	D358V	probably damaging	Het
Nebl	T	A	2: 17,393,023 (GRCm38)	Q487H	possibly damaging	Het
Nebl	T	C	2: 17,390,926 (GRCm38)		probably benign	Het
Nlrp2	T	A	7: 5,322,418 (GRCm38)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,386,306 (GRCm38)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,422,287 (GRCm38)	D296E	probably benign	Het
Or2z8	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,399,961 (GRCm38)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,753,887 (GRCm38)	M284V	probably benign	Het
Pasd1	T	C	X: 71,939,555 (GRCm38)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,744,185 (GRCm38)		probably benign	Het
Pclo	A	G	5: 14,679,797 (GRCm38)		probably benign	Het
Pld2	T	G	11: 70,554,348 (GRCm38)	N591K	probably benign	Het
Plekha7	A	G	7: 116,170,704 (GRCm38)	M276T	probably damaging	Het
Prss39	T	A	1: 34,502,200 (GRCm38)		probably benign	Het
Prtg	A	G	9: 72,809,716 (GRCm38)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,450,541 (GRCm38)	I88N	probably damaging	Het
Rbfox2	A	G	15: 77,091,857 (GRCm38)		probably benign	Het
Samd5	A	G	10: 9,674,939 (GRCm38)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,156,407 (GRCm38)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,471,448 (GRCm38)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,314 (GRCm38)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961 (GRCm38)	I104F	probably damaging	Het
Smcp	T	A	3: 92,584,520 (GRCm38)	T7S	unknown	Het
Sp4	A	G	12: 118,300,816 (GRCm38)		probably benign	Het
Tectb	G	T	19: 55,181,961 (GRCm38)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,754,410 (GRCm38)	H850N	probably benign	Het
Tiam1	T	C	16: 89,897,754 (GRCm38)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,729,776 (GRCm38)		noncoding transcript	Het
Ubap2l	A	T	3: 90,021,373 (GRCm38)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,419,185 (GRCm38)		probably benign	Het

Other mutations in Arfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Arfip2	APN	7	105,639,383 (GRCm38)	missense	probably damaging	1.00
IGL03192:Arfip2	APN	7	105,637,943 (GRCm38)	missense	probably damaging	1.00
IGL03299:Arfip2	APN	7	105,637,943 (GRCm38)	missense	probably damaging	1.00
R0096:Arfip2	UTSW	7	105,638,230 (GRCm38)	missense	probably damaging	1.00
R0121:Arfip2	UTSW	7	105,636,371 (GRCm38)	missense	probably damaging	1.00
R0152:Arfip2	UTSW	7	105,637,223 (GRCm38)	missense	probably damaging	1.00
R0317:Arfip2	UTSW	7	105,637,223 (GRCm38)	missense	probably damaging	1.00
R2172:Arfip2	UTSW	7	105,637,988 (GRCm38)	missense	probably damaging	1.00
R4419:Arfip2	UTSW	7	105,639,063 (GRCm38)	missense	probably damaging	1.00
R4926:Arfip2	UTSW	7	105,637,944 (GRCm38)	missense	probably damaging	1.00
R5394:Arfip2	UTSW	7	105,636,976 (GRCm38)	nonsense	probably null
R5637:Arfip2	UTSW	7	105,637,163 (GRCm38)	missense	probably damaging	1.00
R8967:Arfip2	UTSW	7	105,637,134 (GRCm38)	missense	probably damaging	1.00
R9562:Arfip2	UTSW	7	105,636,872 (GRCm38)	missense	possibly damaging	0.68
Z1088:Arfip2	UTSW	7	105,637,242 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCTCCAAACTGGCCTTAAGCTC -3'
(R):5'- TGCACTGTCTCCGTCCCCAAAATG -3'

Sequencing Primer
(F):5'- AACTGGCCTTAAGCTCCTGAG -3'
(R):5'- AAAATGTTTCATCCATCCCTGTG -3'

Posted On

2013-04-11