Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Asprv1'

169683

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

039577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1538 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86605216-86606692 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 86605618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 155 (Q155*)

Ref Sequence

ENSEMBL: ENSMUSP00000046121 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043400
AA Change: Q155*

SMART Domains

Protein: ENSMUSP00000046121
Gene: ENSMUSG00000033508
AA Change: Q155*

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,771,162 (GRCm39)	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,928,120 (GRCm39)	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 137,889,517 (GRCm39)	D33E	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm39)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,942,295 (GRCm39)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,135,452 (GRCm39)	E535D	probably benign	Het
Armc8	T	A	9: 99,387,343 (GRCm39)	H425L	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atl1	A	G	12: 69,972,962 (GRCm39)	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,595,440 (GRCm39)	L970P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bod1l	A	G	5: 41,973,772 (GRCm39)	M2514T	probably benign	Het
Cacfd1	T	A	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,437,504 (GRCm39)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,394,615 (GRCm39)	R596S	probably damaging	Het
Catip	C	A	1: 74,403,811 (GRCm39)	S176*	probably null	Het
Cdcp1	G	A	9: 123,002,653 (GRCm39)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,570,675 (GRCm39)	I289L	probably benign	Het
Cers3	C	T	7: 66,431,571 (GRCm39)	T182I	probably damaging	Het
Cfap46	T	A	7: 139,262,924 (GRCm39)	N43I	probably null	Het
Clec4n	A	T	6: 123,206,992 (GRCm39)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,644,012 (GRCm39)	S30I	probably benign	Het
Col18a1	C	T	10: 76,907,170 (GRCm39)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,752,677 (GRCm39)	V289A	possibly damaging	Het
Crym	G	A	7: 119,796,938 (GRCm39)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,991,622 (GRCm39)	S8P	unknown	Het
Dido1	A	C	2: 180,326,763 (GRCm39)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,368,028 (GRCm39)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,535,148 (GRCm39)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,760,535 (GRCm39)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,439,836 (GRCm39)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,537,632 (GRCm39)	E585K	probably damaging	Het
Fbxw19	T	A	9: 109,324,056 (GRCm39)	S38C	probably damaging	Het
Fcgbpl1	A	T	7: 27,854,917 (GRCm39)	I1848F	probably damaging	Het
Fmo6	G	A	1: 162,753,675 (GRCm39)	P156S	probably damaging	Het
Frem3	A	T	8: 81,339,764 (GRCm39)	I686F	probably benign	Het
Frem3	T	C	8: 81,339,339 (GRCm39)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,031,177 (GRCm39)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,101,987 (GRCm39)	Q925K	probably benign	Het
Gm18856	T	A	13: 14,139,274 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,636,171 (GRCm39)	T164S	probably benign	Het
Gpx6	A	G	13: 21,497,822 (GRCm39)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,367,802 (GRCm39)	I157S	probably benign	Het
Il31ra	T	A	13: 112,684,000 (GRCm39)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,001,035 (GRCm39)	T297A	probably benign	Het
Kank2	T	C	9: 21,685,927 (GRCm39)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,159,382 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,275,815 (GRCm39)	F111S	probably damaging	Het
Lratd2	A	G	15: 60,695,498 (GRCm39)	C83R	probably damaging	Het
Lrp5	A	G	19: 3,697,585 (GRCm39)	S319P	possibly damaging	Het
Mettl15	T	C	2: 108,962,010 (GRCm39)		probably null	Het
Mtarc1	T	C	1: 184,534,199 (GRCm39)	E223G	probably damaging	Het
Ncoa1	T	C	12: 4,320,748 (GRCm39)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,570,207 (GRCm39)	M251L	probably damaging	Het
Nos2	A	T	11: 78,847,396 (GRCm39)	M1023L	probably benign	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Or10q1b	A	T	19: 13,682,860 (GRCm39)	Y223F	probably damaging	Het
Or52s1b	A	G	7: 102,822,193 (GRCm39)	I217T	probably damaging	Het
Or5k14	T	A	16: 58,693,261 (GRCm39)	N84I	probably damaging	Het
Or5p58	T	A	7: 107,694,493 (GRCm39)	I95F	probably damaging	Het
Or6b6	A	T	7: 106,571,190 (GRCm39)	Y120*	probably null	Het
Or6c206	T	C	10: 129,097,082 (GRCm39)	I84T	probably damaging	Het
Parm1	G	A	5: 91,742,306 (GRCm39)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,373,047 (GRCm39)	S2363A	probably damaging	Het
Piezo1	A	G	8: 123,218,142 (GRCm39)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,370,534 (GRCm39)	M141K	probably benign	Het
Prss29	A	T	17: 25,539,257 (GRCm39)	M1L	possibly damaging	Het
Pter	T	A	2: 12,983,417 (GRCm39)	S141T	probably benign	Het
Ptpru	A	T	4: 131,501,662 (GRCm39)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,775,159 (GRCm39)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,178,511 (GRCm39)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,922 (GRCm39)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,636,540 (GRCm39)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,415,899 (GRCm39)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,447,508 (GRCm39)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,315,856 (GRCm39)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,507,025 (GRCm39)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,468,690 (GRCm39)	Y111C	probably damaging	Het
Shld2	C	G	14: 33,990,833 (GRCm39)	Q24H	probably damaging	Het
Siglecg	A	G	7: 43,067,313 (GRCm39)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm39)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,613,819 (GRCm39)	T88S	possibly damaging	Het
Spire2	T	G	8: 124,084,895 (GRCm39)	L245R	probably damaging	Het
Stard9	C	A	2: 120,527,192 (GRCm39)	P1150T	probably benign	Het
Stat6	C	A	10: 127,489,125 (GRCm39)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,746,166 (GRCm39)	G162E	probably benign	Het
Surf4	T	C	2: 26,823,710 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,149 (GRCm39)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,097,106 (GRCm39)		probably null	Het
Tcaf1	A	T	6: 42,655,923 (GRCm39)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,308,718 (GRCm39)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,467,266 (GRCm39)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,499,753 (GRCm39)	I307N	probably benign	Het
Treml2	A	T	17: 48,609,786 (GRCm39)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,774,012 (GRCm39)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,302,506 (GRCm39)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,283,791 (GRCm39)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,166 (GRCm39)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,192,578 (GRCm39)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,886,828 (GRCm39)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,743,583 (GRCm39)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,329 (GRCm39)	T432I	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
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
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'- TGGCTTGTGTTACTGCTGAACTTCC -3'
(R):5'- GGCTAATTTCTGTGTCCCACACACC -3'

Sequencing Primer
(F):5'- ACTGCTGAACTTCCAGAGGTG -3'
(R):5'- GAGTATCCAGGTCACCATCAGTG -3'

Genotyping

R1538:Asprv1 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.

PCR Primers

R1538:Asprv1(F): 5’- TGGCTTGTGTTACTGCTGAACTTCC-3’

R1538:Asprv1R): 5’- GGCTAATTTCTGTGTCCCACACACC-3’

Sequencing Primers

R1538:Asprv1_seq(F): 5’- ACTGCTGAACTTCCAGAGGTG-3’ 

R1538:Asprv1_seq(R): 5’- GAGTATCCAGGTCACCATCAGTG-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C ∞

The following sequence of 573 nucleotides is amplified (Chr.6: 86628382-86628954, GRCm38; NC_000072):

209 tg gcttgtgtta ctgctgaact tccagaggtg

241 agcagaagga tggccaccag cggagtcaga agcaaggaag gacgccggga gcatgccttc

301 gtcccagaac ctttcactgg tactaactta gctcccagcc tttggctgca ccgctttgaa

361 gtcattgatg acctcaacca ttgggatcat gccaccaaac tgaggttcct gaaagagtcg

421 ctcaagggag atgccctgga tgtctacaat ggactcagtt cccaggccca gggcgatttc

481 agttttgtga agcaagccct cctgagggcc tttggggccc ctggggaggc cttcagtgag

541 cccgaagaga ttttgtttgc caacagcatg ggtaagggct actaccttaa agggaaggtt

601 ggccatgtgc ctgtgagatt cctggtggac tctggggctc aggtgtctgt ggttcacccc

661 gccttatggg aggaggtcac tgatggtgac ctggatactc ttcgtccttt taacaatgtg

721 gtcaaagtgg ccaatggggc agagatgaag atcttgggtg tgtgggacac agaaattagc

781 c

FASTA sequence

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated C is shown in red text.

Posted On

2014-04-13