Mutagenetix > Incidental Mutation

Incidental Mutation 'R9500:Acyp1'

717517

Institutional Source

Beutler Lab

Gene Symbol

Acyp1

Ensembl Gene

ENSMUSG00000008822

Gene Name

acylphosphatase 1

Synonyms

1110039O14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R9500 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85319172-85335212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85325786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 71 (Y71F)

Ref Sequence

ENSEMBL: ENSMUSP00000070555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008966] [ENSMUST00000065913] [ENSMUST00000117138] [ENSMUST00000121930]

AlphaFold

P56376

Predicted Effect

probably benign
Transcript: ENSMUST00000008966

SMART Domains

Protein: ENSMUSP00000008966
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	1	98	6e-26	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000065913
AA Change: Y71F

SMART Domains

Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822
AA Change: Y71F

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	1	35	5.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117138

SMART Domains

Protein: ENSMUSP00000113161
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	1	98	6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121930

SMART Domains

Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	64	156	4.5e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,091 (GRCm39)	T107I	possibly damaging	Het
Akap11	A	T	14: 78,748,543 (GRCm39)	H1281Q		Het
Amz1	T	C	5: 140,737,975 (GRCm39)	Y412H	probably benign	Het
Anxa10	C	T	8: 62,545,545 (GRCm39)	M62I	probably benign	Het
Arhgap25	T	C	6: 87,469,184 (GRCm39)	K109E	probably damaging	Het
Arhgap31	T	A	16: 38,460,683 (GRCm39)	E43D	probably damaging	Het
Atf6	T	C	1: 170,574,708 (GRCm39)	M577V	probably damaging	Het
Auts2	C	A	5: 131,505,620 (GRCm39)	A82S	unknown	Het
Bcl3	T	C	7: 19,556,602 (GRCm39)	M1V	probably null	Het
Cblb	T	C	16: 51,959,993 (GRCm39)		probably null	Het
Cc2d2b	T	C	19: 40,797,840 (GRCm39)	V820A	unknown	Het
Clint1	T	G	11: 45,797,194 (GRCm39)	M425R	possibly damaging	Het
Clvs1	A	G	4: 9,429,834 (GRCm39)	D279G	probably damaging	Het
Colec11	A	C	12: 28,645,302 (GRCm39)	I123S	probably damaging	Het
Crebbp	C	T	16: 3,911,355 (GRCm39)	E1460K	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcaf8	C	G	1: 171,999,909 (GRCm39)	S22R	possibly damaging	Het
Dmxl1	T	C	18: 50,011,271 (GRCm39)	S1143P	probably damaging	Het
Dnhd1	T	C	7: 105,353,709 (GRCm39)	I2954T	probably benign	Het
Dop1b	C	T	16: 93,607,171 (GRCm39)	P2275L	probably benign	Het
Drc3	A	G	11: 60,261,334 (GRCm39)	S162G	probably benign	Het
Ehd2	T	C	7: 15,686,077 (GRCm39)	I332V	possibly damaging	Het
Eml1	T	A	12: 108,493,958 (GRCm39)	D584E	probably damaging	Het
Eogt	T	C	6: 97,096,992 (GRCm39)	T339A	probably benign	Het
Gbf1	A	G	19: 46,258,389 (GRCm39)	T949A	probably benign	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,749,044 (GRCm39)		probably benign	Het
Gm11568	AGCCC	AGCCCTGCTGCCTGCCC	11: 99,749,065 (GRCm39)		probably benign	Het
Gtpbp10	A	T	5: 5,606,120 (GRCm39)	C88*	probably null	Het
Ifit1bl2	A	T	19: 34,596,508 (GRCm39)	Y369*	probably null	Het
Igsf6	A	G	7: 120,673,697 (GRCm39)	L11P	probably benign	Het
Lars1	A	T	18: 42,361,726 (GRCm39)	I627N	probably damaging	Het
Lmo3	G	T	6: 138,393,621 (GRCm39)	Q11K		Het
Mical2	A	T	7: 111,936,054 (GRCm39)		probably null	Het
Mmp23	A	G	4: 155,736,567 (GRCm39)	V158A	probably benign	Het
Mmp24	T	C	2: 155,654,195 (GRCm39)	I391T	probably damaging	Het
Mrgpra3	A	T	7: 47,239,400 (GRCm39)	Y175*	probably null	Het
Mrpl23	G	A	7: 142,089,859 (GRCm39)	V65M	probably damaging	Het
Mup1	A	G	4: 60,456,488 (GRCm39)	L85S	possibly damaging	Het
Myo15b	T	C	11: 115,777,466 (GRCm39)	L747S	probably damaging	Het
Nanog	G	T	6: 122,690,219 (GRCm39)	W208L	probably damaging	Het
Nkg7	A	G	7: 43,087,229 (GRCm39)	Y112C	probably damaging	Het
Nup155	A	G	15: 8,141,800 (GRCm39)	D64G	probably damaging	Het
Or13p4	A	G	4: 118,546,930 (GRCm39)	S240P	possibly damaging	Het
Palm3	T	C	8: 84,753,636 (GRCm39)	S108P	probably damaging	Het
Pam	T	C	1: 97,772,325 (GRCm39)	N579D	probably benign	Het
Pclo	A	G	5: 14,725,648 (GRCm39)	E1502G	unknown	Het
Pde4dip	A	G	3: 97,795,896 (GRCm39)	S31P	unknown	Het
Peg10	A	T	6: 4,756,871 (GRCm39)	K482N	unknown	Het
Phf19	A	T	2: 34,801,708 (GRCm39)	L34*	probably null	Het
Pla2g2c	A	T	4: 138,461,689 (GRCm39)	K53*	probably null	Het
Pla2g4f	T	A	2: 120,142,713 (GRCm39)		probably null	Het
Polk	G	T	13: 96,630,349 (GRCm39)	T404K	probably damaging	Het
Prkdc	T	A	16: 15,657,079 (GRCm39)	V4058D	possibly damaging	Het
Prox2	T	A	12: 85,134,851 (GRCm39)	I477F	probably damaging	Het
Ptk6	A	G	2: 180,837,566 (GRCm39)	V451A	probably benign	Het
Ptpn3	C	T	4: 57,205,914 (GRCm39)	E693K	possibly damaging	Het
Rag2	G	A	2: 101,461,217 (GRCm39)	G509D	probably damaging	Het
Rapgef2	A	G	3: 78,974,093 (GRCm39)	C1418R	probably benign	Het
Rev1	A	T	1: 38,102,214 (GRCm39)	Y716*	probably null	Het
Rsl1d1	T	A	16: 11,011,385 (GRCm39)	T440S	possibly damaging	Het
Samd14	T	A	11: 94,914,372 (GRCm39)	Y343*	probably null	Het
Sema3a	A	T	5: 13,615,854 (GRCm39)	D426V	possibly damaging	Het
Slc7a11	G	A	3: 50,382,201 (GRCm39)	T182M	probably benign	Het
Slitrk5	A	G	14: 111,916,726 (GRCm39)	I117V	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stil	A	T	4: 114,878,716 (GRCm39)	H384L	possibly damaging	Het
Suclg2	C	A	6: 95,546,666 (GRCm39)	R270L	probably damaging	Het
Taf5	A	G	19: 47,065,771 (GRCm39)	D492G	probably damaging	Het
Tes3-ps	T	A	13: 49,647,815 (GRCm39)	Y230*	probably null	Het
Ttc41	G	T	10: 86,565,726 (GRCm39)	A427S	probably benign	Het
Ttn	T	C	2: 76,553,994 (GRCm39)	D30903G	probably damaging	Het
Txndc16	A	T	14: 45,406,798 (GRCm39)	L219Q	probably null	Het
Usp34	T	A	11: 23,331,337 (GRCm39)	H1098Q	probably damaging	Het
Vmn2r52	T	A	7: 9,905,281 (GRCm39)	Y186F	probably damaging	Het
Zbtb41	T	C	1: 139,359,806 (GRCm39)	F512S	probably damaging	Het

Other mutations in Acyp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1204:Acyp1	UTSW	12	85,326,866 (GRCm39)	splice site	probably null
R1898:Acyp1	UTSW	12	85,335,114 (GRCm39)	missense	probably benign	0.00
R4683:Acyp1	UTSW	12	85,325,717 (GRCm39)	intron	probably benign
R5336:Acyp1	UTSW	12	85,326,785 (GRCm39)	missense	probably damaging	1.00
R5392:Acyp1	UTSW	12	85,325,759 (GRCm39)	intron	probably benign
R6747:Acyp1	UTSW	12	85,325,679 (GRCm39)	missense	probably null
R7075:Acyp1	UTSW	12	85,325,782 (GRCm39)	missense	unknown
R7746:Acyp1	UTSW	12	85,325,832 (GRCm39)	missense	unknown
R7794:Acyp1	UTSW	12	85,335,053 (GRCm39)	missense	probably benign	0.02
R9210:Acyp1	UTSW	12	85,326,820 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACATCACTGAGGACAGGATGC -3'
(R):5'- TTCCAAATTATCTGGAGTAGCACG -3'

Sequencing Primer
(F):5'- CTGAGGACAGGATGCTAGTG -3'
(R):5'- TCCTTGTCTTATCACCAAGGAACAG -3'

Posted On

2022-07-18