Mutagenetix > Incidental Mutation

Incidental Mutation 'R4419:Arfip2'

326998

Institutional Source

Beutler Lab

Gene Symbol

Arfip2

Ensembl Gene

ENSMUSG00000030881

Gene Name

ADP-ribosylation factor interacting protein 2

Synonyms

2310002N04Rik, Arfaptin 2

MMRRC Submission

041140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105283410-105289623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105288270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 44 (T44A)

Ref Sequence

ENSEMBL: ENSMUSP00000147808 (fasta)

Gene Model

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

AlphaFold

Q8K221

Predicted Effect

probably benign
Transcript: ENSMUST00000033171
AA Change: T48A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881
AA Change: T48A

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: T48A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881
AA Change: T48A

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: ENSMUST00000127759

Predicted Effect

probably damaging
Transcript: ENSMUST00000137931
AA Change: T48A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881
AA Change: T48A

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: T48A

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

SMART Domains

Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881
AA Change: T48A

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 damaging
Transcript: ENSMUST00000131446
AA Change: T48A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881
AA Change: T48A

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: ENSMUST00000142363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

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 damaging
Transcript: ENSMUST00000209550
AA Change: T44A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

unknown
Transcript: ENSMUST00000210911
AA Change: T48A

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	G	A	17: 24,377,652 (GRCm39)	P126L	probably benign	Het
B4galt1	A	G	4: 40,853,537 (GRCm39)	V90A	probably benign	Het
Bad	C	A	19: 6,928,053 (GRCm39)	A115E	probably benign	Het
Bicc1	A	G	10: 70,782,804 (GRCm39)	L521P	possibly damaging	Het
Caskin1	T	C	17: 24,723,683 (GRCm39)	S824P	probably damaging	Het
Cblb	T	A	16: 51,867,621 (GRCm39)	D76E	possibly damaging	Het
Celsr3	G	T	9: 108,720,443 (GRCm39)	A2572S	possibly damaging	Het
Csmd3	T	C	15: 47,567,707 (GRCm39)	Q2152R	probably damaging	Het
D2hgdh	T	A	1: 93,757,535 (GRCm39)	V150E	probably damaging	Het
Ddn	C	A	15: 98,703,492 (GRCm39)	W600L	probably benign	Het
Dicer1	A	T	12: 104,671,373 (GRCm39)	Y966N	probably damaging	Het
Dsp	T	A	13: 38,379,108 (GRCm39)	I1352N	probably damaging	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Dysf	T	C	6: 84,184,224 (GRCm39)		probably null	Het
Elmo2	T	C	2: 165,153,675 (GRCm39)		probably null	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Ky	G	A	9: 102,419,909 (GRCm39)	V639I	probably damaging	Het
Med16	G	A	10: 79,734,216 (GRCm39)	A566V	probably benign	Het
Mettl17	G	T	14: 52,124,729 (GRCm39)	G167C	possibly damaging	Het
Mgat4b	T	C	11: 50,123,813 (GRCm39)	F318L	probably damaging	Het
Mug2	C	A	6: 122,056,589 (GRCm39)	A1178D	probably damaging	Het
Myo3b	A	G	2: 69,926,706 (GRCm39)	D51G	probably damaging	Het
Naip2	T	C	13: 100,297,133 (GRCm39)	N968D	probably benign	Het
Nbea	T	C	3: 55,917,021 (GRCm39)	H820R	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or10ak7	A	T	4: 118,791,586 (GRCm39)	I153N	possibly damaging	Het
Or6c68	T	C	10: 129,157,684 (GRCm39)	F64S	possibly damaging	Het
Or8b51	C	T	9: 38,569,365 (GRCm39)	V108I	probably benign	Het
Ppargc1a	T	C	5: 51,652,044 (GRCm39)	D218G	probably damaging	Het
Rras	A	G	7: 44,670,003 (GRCm39)	D145G	probably damaging	Het
Scn3a	C	A	2: 65,297,304 (GRCm39)	G1452C	probably damaging	Het
Slc22a2	C	A	17: 12,831,473 (GRCm39)	S421*	probably null	Het
Slc39a10	A	G	1: 46,849,226 (GRCm39)	F797L	probably benign	Het
Spta1	T	A	1: 174,074,990 (GRCm39)	Y2405*	probably null	Het
Ss18	A	G	18: 14,766,662 (GRCm39)	Y359H	unknown	Het
St14	C	T	9: 31,008,224 (GRCm39)	C537Y	probably damaging	Het
Tmem252	T	A	19: 24,654,910 (GRCm39)	Y96N	probably damaging	Het
Trafd1	T	C	5: 121,511,396 (GRCm39)	D474G	probably benign	Het
Trmt1l	A	G	1: 151,316,559 (GRCm39)	I20M	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn1r43	A	G	6: 89,846,629 (GRCm39)	S286P	probably benign	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
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'- TATCTTCGAGACTGACTGGCC -3'
(R):5'- CCCGGTAGCCTTCAGTTAAC -3'

Sequencing Primer
(F):5'- GGACTGGACTGTCTATGAACTTCAC -3'
(R):5'- CGGTAGCCTTCAGTTAACTAAACTC -3'

Posted On

2015-07-07