Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Arrdc1'

536349

Institutional Source

Beutler Lab

Gene Symbol

Arrdc1

Ensembl Gene

ENSMUSG00000026972

Gene Name

arrestin domain containing 1

Synonyms

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24925352-24935252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24925665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 415 (S415P)

Ref Sequence

ENSEMBL: ENSMUSP00000099999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028349] [ENSMUST00000102935] [ENSMUST00000133934] [ENSMUST00000142887] [ENSMUST00000144963]

AlphaFold

Q99KN1

Predicted Effect

probably benign
Transcript: ENSMUST00000028349
AA Change: S416P

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: S416P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	8.5e-19	PFAM
Arrestin_C	162	286	1.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102935
AA Change: S415P

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: S415P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	4.1e-31	PFAM
Arrestin_C	162	285	2.7e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132074

SMART Domains

Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	2	84	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000133934

SMART Domains

Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	38	102	1.4e-16	PFAM
Pfam:Arrestin_C	125	210	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142887

SMART Domains

Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	6	95	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144963

SMART Domains

Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	3	58	5e-21	BLAST

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

PHENOTYPE: Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173	V455A	probably damaging	Het
Atp10a	T	C	7: 58,797,352	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657		probably null	Het
Eif3l	A	G	15: 79,085,560	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425		probably null	Het
Fgf23	G	T	6: 127,073,216	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621		probably null	Het
Ipo13	A	T	4: 117,904,911	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Kat6a	G	A	8: 22,932,361	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836		probably null	Het
Ogdh	A	G	11: 6,340,477	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007	N93K	possibly damaging	Het

Other mutations in Arrdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Arrdc1	APN	2	24926152	missense	possibly damaging	0.93
IGL02510:Arrdc1	APN	2	24935100	missense	probably damaging	1.00
IGL03307:Arrdc1	APN	2	24926342	missense	probably damaging	0.99
PIT4378001:Arrdc1	UTSW	2	24926633	missense	probably damaging	1.00
R1192:Arrdc1	UTSW	2	24926140	missense	probably benign	0.22
R1466:Arrdc1	UTSW	2	24925795	missense	probably benign	0.04
R1466:Arrdc1	UTSW	2	24925795	missense	probably benign	0.04
R1550:Arrdc1	UTSW	2	24926339	missense	probably damaging	1.00
R1584:Arrdc1	UTSW	2	24925795	missense	probably benign	0.04
R2061:Arrdc1	UTSW	2	24926352	nonsense	probably null
R2157:Arrdc1	UTSW	2	24926975	missense	probably damaging	1.00
R4904:Arrdc1	UTSW	2	24926664	missense	possibly damaging	0.93
R4946:Arrdc1	UTSW	2	24925848	missense	probably benign	0.36
R5632:Arrdc1	UTSW	2	24927828	missense	probably benign	0.01
R5766:Arrdc1	UTSW	2	24926405	missense	probably damaging	0.99
R7860:Arrdc1	UTSW	2	24926146	missense	probably damaging	1.00
R9136:Arrdc1	UTSW	2	24927181	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGTAGCTGAGCCAGGTAG -3'
(R):5'- AAGCCCTGCTAGACATTCTC -3'

Sequencing Primer
(F):5'- TAGCTGAGCCAGGTAGAGAGC -3'
(R):5'- GTCCCCTACTTTGCAGAAGG -3'

Posted On

2018-10-18