Mutagenetix > Incidental Mutation

Incidental Mutation 'R2172:Arfip2'

237554

Institutional Source

Beutler Lab

Gene Symbol

Arfip2

Ensembl Gene

ENSMUSG00000030881

Gene Name

ADP-ribosylation factor interacting protein 2

Synonyms

2310002N04Rik, Arfaptin 2

MMRRC Submission

040174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105283410-105289623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105287195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 64 (D64V)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000082963

Predicted Effect

probably damaging
Transcript: ENSMUST00000084782
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881
AA Change: D123V

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 damaging
Transcript: ENSMUST00000131446
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881
AA Change: D123V

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: ENSMUST00000137931
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881
AA Change: D123V

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: ENSMUST00000133519
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881
AA Change: D123V

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: ENSMUST00000134613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

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: 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: 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

probably benign
Transcript: ENSMUST00000106784

Predicted Effect

probably damaging
Transcript: ENSMUST00000209550
AA Change: D119V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209870
AA Change: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140882

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,123,613 (GRCm39)	E441V	probably damaging	Het
Atg9a	C	A	1: 75,162,329 (GRCm39)	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,497,864 (GRCm39)	I308L	probably benign	Het
Bcan	T	A	3: 87,903,888 (GRCm39)	Y199F	probably damaging	Het
Bsn	T	C	9: 107,987,191 (GRCm39)		probably benign	Het
Ccdc158	A	T	5: 92,780,367 (GRCm39)	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,163,672 (GRCm39)	Y492C	probably benign	Het
Dnah9	G	T	11: 65,963,605 (GRCm39)	H1783N	probably damaging	Het
Dpep2	A	G	8: 106,715,630 (GRCm39)	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,178,559 (GRCm39)	Y282H	probably damaging	Het
Egfr	C	T	11: 16,861,562 (GRCm39)	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,530,477 (GRCm39)	S560P	probably damaging	Het
Gm14295	G	A	2: 176,502,895 (GRCm39)	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,212,471 (GRCm39)	V51I	probably benign	Het
Gsap	G	A	5: 21,427,438 (GRCm39)		probably null	Het
Hecw1	T	A	13: 14,552,291 (GRCm39)	I103F	probably damaging	Het
Herc3	T	A	6: 58,864,422 (GRCm39)	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,273,643 (GRCm39)	D244E	probably benign	Het
Hydin	A	G	8: 111,308,681 (GRCm39)	E3989G	probably benign	Het
Ibsp	T	C	5: 104,458,296 (GRCm39)	Y278H	probably damaging	Het
Ift57	T	G	16: 49,579,703 (GRCm39)	N291K	probably benign	Het
Il15ra	A	G	2: 11,728,382 (GRCm39)	T149A	possibly damaging	Het
Ints5	C	T	19: 8,873,646 (GRCm39)	T535I	possibly damaging	Het
Jarid2	T	C	13: 45,056,015 (GRCm39)	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Lrrc49	A	G	9: 60,509,965 (GRCm39)	V429A	probably benign	Het
Lsm3	T	C	6: 91,499,254 (GRCm39)	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map1a	G	T	2: 121,138,413 (GRCm39)	V2726L	probably damaging	Het
Marveld3	A	C	8: 110,688,478 (GRCm39)	S88A	probably benign	Het
Mcm9	T	C	10: 53,424,670 (GRCm39)	D640G	probably damaging	Het
Mettl4	A	G	17: 95,040,591 (GRCm39)	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,379 (GRCm39)	L274*	probably null	Het
Nacc2	A	C	2: 25,950,235 (GRCm39)	D500E	probably benign	Het
Nprl3	T	A	11: 32,184,894 (GRCm39)	M372L	probably benign	Het
Or5p6	A	T	7: 107,630,674 (GRCm39)	I292N	probably damaging	Het
Otud7b	T	G	3: 96,060,837 (GRCm39)		probably null	Het
Pcx	G	A	19: 4,670,909 (GRCm39)	R1070H	probably benign	Het
Ptprq	C	T	10: 107,426,855 (GRCm39)	W1560*	probably null	Het
Puf60	A	T	15: 75,942,313 (GRCm39)	I520N	probably damaging	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Rfx3	G	A	19: 27,792,894 (GRCm39)	Q322*	probably null	Het
Samd14	G	T	11: 94,905,217 (GRCm39)	V10L	probably benign	Het
Setd2	G	A	9: 110,378,912 (GRCm39)	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,749,316 (GRCm39)	S117P	probably benign	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skor1	C	A	9: 63,052,404 (GRCm39)	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,119,638 (GRCm39)	T375A	probably benign	Het
Sparc	G	A	11: 55,286,627 (GRCm39)	Q324*	probably null	Het
Spopfm2	T	G	3: 94,083,605 (GRCm39)	K69Q	possibly damaging	Het
Srebf1	T	C	11: 60,097,328 (GRCm39)	T171A	probably benign	Het
Srrd	A	G	5: 112,488,988 (GRCm39)	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,133,235 (GRCm39)	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,148,274 (GRCm39)	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721 (GRCm39)	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,205,859 (GRCm39)	S516N	probably damaging	Het
Trpa1	T	A	1: 14,951,880 (GRCm39)	T940S	probably benign	Het
Trpv4	G	A	5: 114,782,771 (GRCm39)	R64C	probably damaging	Het
Tufm	A	G	7: 126,088,019 (GRCm39)	E174G	probably benign	Het
Urb2	A	G	8: 124,757,841 (GRCm39)	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843 (GRCm39)	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,477,614 (GRCm39)	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,544,694 (GRCm39)	F277L	probably damaging	Het
Zfp683	C	T	4: 133,783,106 (GRCm39)	T190I	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGCTGAGGCACCTGAAG -3'
(R):5'- TAAGATTCAAGTGCTTCTCCTCAG -3'

Sequencing Primer
(F):5'- ACCTGAAGCTCTGGGGACTTC -3'
(R):5'- CCTTCCAATCAGTGCACA -3'

Posted On

2014-10-02