Mutagenetix > Incidental Mutation

Incidental Mutation 'R6899:Asprv1'

541013

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

044993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86605216-86606692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86605742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 196 (L196P)

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: L196P

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

SMART Domains

Protein: ENSMUSP00000046121
Gene: ENSMUSG00000033508
AA Change: L196P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,264 (GRCm39)	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,652,533 (GRCm39)	G198S	probably damaging	Het
Adcy2	A	T	13: 69,130,500 (GRCm39)	M129K	probably damaging	Het
Apmap	T	A	2: 150,436,228 (GRCm39)	I107F	probably benign	Het
Arrdc3	T	C	13: 81,037,330 (GRCm39)	I162T	probably damaging	Het
Atpsckmt	A	G	15: 31,617,257 (GRCm39)	S163G	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,687,173 (GRCm39)	M177K	probably benign	Het
C8b	A	T	4: 104,644,071 (GRCm39)	K246M	probably benign	Het
Cdo1	A	G	18: 46,856,407 (GRCm39)	C76R	probably damaging	Het
Ces2b	T	A	8: 105,563,398 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,902 (GRCm39)	S194N	probably benign	Het
Dap3	A	G	3: 88,840,907 (GRCm39)	F77L	probably benign	Het
Dars1	A	G	1: 128,341,483 (GRCm39)	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,922,776 (GRCm39)	D461V	possibly damaging	Het
Ero1a	A	C	14: 45,530,396 (GRCm39)	H345Q	probably benign	Het
Fzd8	T	A	18: 9,214,729 (GRCm39)	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gramd1c	T	A	16: 43,860,505 (GRCm39)	Y64F	probably benign	Het
Heatr5b	T	A	17: 79,110,938 (GRCm39)	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,875,942 (GRCm39)	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,212,352 (GRCm39)	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifna9	A	G	4: 88,510,300 (GRCm39)	F108S	probably damaging	Het
Ikbke	A	G	1: 131,203,499 (GRCm39)	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,290,060 (GRCm39)	R462C	possibly damaging	Het
Junb	A	G	8: 85,704,353 (GRCm39)	F236L	probably benign	Het
Klhl36	T	C	8: 120,596,881 (GRCm39)	V194A	probably benign	Het
Lsg1	A	T	16: 30,400,906 (GRCm39)	D134E	probably benign	Het
Megf8	G	T	7: 25,060,138 (GRCm39)	C2343F	probably damaging	Het
Mtres1	T	C	10: 43,408,780 (GRCm39)	E121G	possibly damaging	Het
Myom3	G	A	4: 135,530,603 (GRCm39)	G1172R	probably damaging	Het
Nasp	A	T	4: 116,461,530 (GRCm39)	V548E	probably damaging	Het
Nubpl	T	A	12: 52,357,536 (GRCm39)	S317T	probably benign	Het
Nup210l	A	G	3: 90,075,204 (GRCm39)	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,076,188 (GRCm39)	A373T	probably benign	Het
Psat1	C	T	19: 15,895,569 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Slain1	C	T	14: 103,888,215 (GRCm39)	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,137,949 (GRCm39)	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,025,473 (GRCm39)	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,879,739 (GRCm39)	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,394,352 (GRCm39)	P74L	probably damaging	Het
Sod3	A	G	5: 52,526,050 (GRCm39)	T250A	unknown	Het
Syne2	A	G	12: 76,142,503 (GRCm39)		probably null	Het
Tctn1	A	G	5: 122,387,019 (GRCm39)	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,603,305 (GRCm39)	M448V	probably benign	Het
Tfpi	C	T	2: 84,275,153 (GRCm39)	G152S	probably damaging	Het
Thap4	A	G	1: 93,678,691 (GRCm39)	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,628,744 (GRCm39)	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,244,641 (GRCm39)	E411G	probably damaging	Het
Washc4	C	A	10: 83,411,919 (GRCm39)	D683E	probably benign	Het
Wdr3	A	T	3: 100,057,217 (GRCm39)	V462D	possibly damaging	Het
Wdr5b	T	C	16: 35,862,150 (GRCm39)	S90P	probably damaging	Het
Zfp407	A	G	18: 84,579,559 (GRCm39)	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,728,707 (GRCm39)	I247V	possibly damaging	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
R2966: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
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'- ATGCCACCAAACTGAGGTTCC -3'
(R):5'- TTGCCCAGGCTAATTTCTGTG -3'

Sequencing Primer
(F):5'- AGGTTCCTGAAAGAGTCGCTC -3'
(R):5'- AGGCTAATTTCTGTGTCCCAC -3'

Posted On

2018-11-28