Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Arfip2'

440439

Institutional Source

Beutler Lab

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 #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105283410-105289623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105286370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 144 (M144T)

Ref Sequence

ENSEMBL: ENSMUSP00000147995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000057525] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000106783] [ENSMUST00000106784] [ENSMUST00000131446] [ENSMUST00000140577] [ENSMUST00000106785] [ENSMUST00000106789] [ENSMUST00000106786] [ENSMUST00000133519] [ENSMUST00000137931] [ENSMUST00000106791] [ENSMUST00000209550] [ENSMUST00000210911] [ENSMUST00000210312] [ENSMUST00000209588] [ENSMUST00000211054] [ENSMUST00000210350] [ENSMUST00000209445] [ENSMUST00000151193] [ENSMUST00000142363] [ENSMUST00000142874] [ENSMUST00000149819] [ENSMUST00000157028] [ENSMUST00000147044] [ENSMUST00000150479] [ENSMUST00000153371]

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: ENSMUST00000057525

SMART Domains

Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	2.5e-9	PFAM
Pfam:NHL	533	560	1.9e-9	PFAM
Pfam:NHL	575	602	5.5e-8	PFAM
Pfam:NHL	622	649	1e-10	PFAM
Pfam:NHL	669	696	1.8e-12	PFAM
Pfam:NHL	713	740	1.9e-9	PFAM

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

probably damaging
Transcript: ENSMUST00000084782
AA Change: M218T

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

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881
AA Change: M218T

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

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

probably damaging
Transcript: ENSMUST00000131446
AA Change: M218T

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

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881
AA Change: M218T

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

noncoding transcript
Transcript: ENSMUST00000140882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

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: ENSMUST00000106789

SMART Domains

Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	1.8e-8	PFAM
Pfam:NHL	533	560	3.9e-10	PFAM
Pfam:NHL	575	602	2.3e-7	PFAM
Pfam:NHL	622	649	3.9e-10	PFAM
Pfam:NHL	669	696	2.2e-12	PFAM
Pfam:NHL	713	740	6.5e-9	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

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: 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: ENSMUST00000106791

SMART Domains

Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	151	7.54e-14	SMART
BBC	158	284	2.55e-42	SMART
IG_FLMN	321	421	1.06e-31	SMART
Pfam:NHL	486	513	3.4e-8	PFAM
Pfam:NHL	533	560	7.6e-10	PFAM
Pfam:NHL	575	602	4.4e-7	PFAM
Pfam:NHL	622	649	7.6e-10	PFAM
Pfam:NHL	669	696	2.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

probably damaging
Transcript: ENSMUST00000209550
AA Change: M214T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210911
AA Change: M144T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Predicted Effect

probably benign
Transcript: ENSMUST00000147044

SMART Domains

Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

Predicted Effect

probably benign
Transcript: ENSMUST00000153371

SMART Domains

Protein: ENSMUSP00000119910
Gene: ENSMUSG00000036989

Domain	Start	End	E-Value	Type
RING	22	62	6.43e-8	SMART
BBOX	110	157	3.55e-10	SMART
Blast:BBC	164	199	9e-15	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	probably damaging	Het

Other mutations in Arfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Arfip2	APN	7	105,288,590 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTCTAAGTCTGTCCGGTAGG -3'
(R):5'- ATGAAGGGCTCTACAGCTGC -3'

Sequencing Primer
(F):5'- GTCCGGTAGGCATCATATTCCAG -3'
(R):5'- CAGTCAGGTAAGGAGTGTTACTC -3'

Posted On

2016-11-08