Mutagenetix > Incidental Mutation

Incidental Mutation 'R2966:Asprv1'

264654

Institutional Source

Beutler Lab

Gene Symbol

Asprv1

Ensembl Gene

ENSMUSG00000033508

Gene Name

aspartic peptidase, retroviral-like 1

Synonyms

TPA-induced aspartic proteinase-like, Taps, 2300003P22Rik, SASP, SASPase

MMRRC Submission

040522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2966 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

86605216-86606692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86605348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 65 (C65S)

Ref Sequence

ENSEMBL: ENSMUSP00000046121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043400]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043400
AA Change: C65S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046121
Gene: ENSMUSG00000033508
AA Change: C65S

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	177	295	1.3e-8	PFAM
Pfam:Asp_protease_2	196	286	1.6e-10	PFAM
low complexity region	314	338	N/A	INTRINSIC

Meta Mutation Damage Score

0.1483

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null allele develop fine skin wrinkles at the side of their body without any apparent epidermal differentiation defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Adamts1	A	G	16: 85,593,662 (GRCm39)	V691A	possibly damaging	Het
Add1	C	A	5: 34,788,058 (GRCm39)	D702E	probably benign	Het
Ap1s1	T	C	5: 137,066,357 (GRCm39)	D148G	probably damaging	Het
Atp11a	A	T	8: 12,897,853 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,805,049 (GRCm39)	D1022G	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Bnc2	G	A	4: 84,211,754 (GRCm39)	A300V	probably benign	Het
Cep250	A	G	2: 155,836,798 (GRCm39)	K2256E	probably benign	Het
Cfap300	C	T	9: 8,027,175 (GRCm39)	R121Q	probably damaging	Het
Chrna2	T	C	14: 66,386,817 (GRCm39)	V321A	possibly damaging	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Col2a1	A	G	15: 97,873,976 (GRCm39)	I1402T	unknown	Het
Ddx43	C	A	9: 78,313,661 (GRCm39)	Y197*	probably null	Het
Dyrk2	T	A	10: 118,696,242 (GRCm39)	K339*	probably null	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fgd6	T	A	10: 93,880,056 (GRCm39)	F303L	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gabra5	T	C	7: 57,058,389 (GRCm39)	E453G	probably damaging	Het
Gatd1	T	A	7: 140,989,080 (GRCm39)	D193V	probably damaging	Het
Gm6871	T	G	7: 41,222,864 (GRCm39)	T75P	probably benign	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Has2	A	G	15: 56,545,533 (GRCm39)	L23P	probably damaging	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mgam	T	C	6: 40,745,154 (GRCm39)	V1807A	possibly damaging	Het
Myh1	A	G	11: 67,105,410 (GRCm39)	K1067E	probably damaging	Het
Nav2	C	T	7: 49,206,780 (GRCm39)	T1535I	probably damaging	Het
Noa1	T	C	5: 77,454,191 (GRCm39)	E483G	possibly damaging	Het
Nsd2	G	C	5: 34,003,466 (GRCm39)	E205D	probably benign	Het
Pclo	T	C	5: 14,731,164 (GRCm39)	L3222P	unknown	Het
Pnpla2	C	T	7: 141,038,391 (GRCm39)	L215F	probably damaging	Het
Prss35	A	G	9: 86,637,635 (GRCm39)	D135G	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rab21	T	C	10: 115,130,814 (GRCm39)	N164S	probably benign	Het
Rasal1	T	A	5: 120,809,685 (GRCm39)	L530Q	probably damaging	Het
Rbm15b	A	G	9: 106,762,791 (GRCm39)	L459P	probably damaging	Het
Recql	A	G	6: 142,309,313 (GRCm39)	V586A	probably benign	Het
Rprd2	A	T	3: 95,673,745 (GRCm39)		probably null	Het
Sis	T	A	3: 72,796,343 (GRCm39)	I1813L	probably benign	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Sympk	T	C	7: 18,764,469 (GRCm39)	V58A	probably damaging	Het
Trav7d-4	C	T	14: 53,007,584 (GRCm39)	Q26*	probably null	Het
Usp48	G	A	4: 137,341,073 (GRCm39)	V358M	probably damaging	Het
Vmn1r39	A	C	6: 66,781,715 (GRCm39)	I201S	possibly damaging	Het
Zcchc8	A	G	5: 123,858,930 (GRCm39)	S22P	probably benign	Het

Other mutations in Asprv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Asprv1	APN	6	86,605,900 (GRCm39)	missense	probably damaging	0.99
quince	UTSW	6	86,605,822 (GRCm39)	missense	probably damaging	1.00
R0254:Asprv1	UTSW	6	86,606,077 (GRCm39)	missense	probably damaging	1.00
R0311:Asprv1	UTSW	6	86,605,822 (GRCm39)	missense	probably damaging	1.00
R1538:Asprv1	UTSW	6	86,605,618 (GRCm39)	nonsense	probably null
R1661:Asprv1	UTSW	6	86,605,718 (GRCm39)	missense	probably damaging	0.97
R1792:Asprv1	UTSW	6	86,605,354 (GRCm39)	missense	possibly damaging	0.59
R2964:Asprv1	UTSW	6	86,605,348 (GRCm39)	missense	probably damaging	0.98
R2965:Asprv1	UTSW	6	86,605,348 (GRCm39)	missense	probably damaging	0.98
R4748:Asprv1	UTSW	6	86,605,405 (GRCm39)	missense	probably damaging	0.98
R5600:Asprv1	UTSW	6	86,606,044 (GRCm39)	nonsense	probably null
R5655:Asprv1	UTSW	6	86,605,464 (GRCm39)	missense	probably benign	0.05
R5704:Asprv1	UTSW	6	86,605,532 (GRCm39)	missense	probably damaging	1.00
R5715:Asprv1	UTSW	6	86,605,596 (GRCm39)	missense	probably benign
R6259:Asprv1	UTSW	6	86,605,361 (GRCm39)	missense	probably benign	0.05
R6899:Asprv1	UTSW	6	86,605,742 (GRCm39)	missense	probably damaging	1.00
R7451:Asprv1	UTSW	6	86,605,930 (GRCm39)	missense	probably benign	0.00
R7593:Asprv1	UTSW	6	86,605,762 (GRCm39)	missense	probably damaging	0.99
R7648:Asprv1	UTSW	6	86,605,852 (GRCm39)	missense	probably damaging	1.00
R8425:Asprv1	UTSW	6	86,605,851 (GRCm39)	missense	probably benign	0.15
R8775:Asprv1	UTSW	6	86,605,321 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Asprv1	UTSW	6	86,605,321 (GRCm39)	missense	probably damaging	1.00
R8882:Asprv1	UTSW	6	86,605,349 (GRCm39)	missense	probably benign	0.02
R9091:Asprv1	UTSW	6	86,606,077 (GRCm39)	missense	probably damaging	1.00
R9270:Asprv1	UTSW	6	86,606,077 (GRCm39)	missense	probably damaging	1.00
Z1177:Asprv1	UTSW	6	86,605,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGGTGGAGCTTCTAGAAC -3'
(R):5'- TGGCATGATCCCAATGGTTG -3'

Sequencing Primer
(F):5'- GGTGGAGCTTCTAGAACAAAGG -3'
(R):5'- CATGATCCCAATGGTTGAGGTCATC -3'

Posted On

2015-02-05