Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Psapl1'

364104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psapl1

Ensembl Gene

ENSMUSG00000043430

Gene Name

prosaposin-like 1

Synonyms

2310020A21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

36361365-36363912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36362233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 275 (D275V)

Ref Sequence

ENSEMBL: ENSMUSP00000100594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000052224] [ENSMUST00000070720] [ENSMUST00000135324]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037370

SMART Domains

Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	89	103	N/A	INTRINSIC
low complexity region	106	130	N/A	INTRINSIC
VPS10	170	780	N/A	SMART
PKD	782	872	7.27e-2	SMART
transmembrane domain	1078	1100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000052224
AA Change: D275V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: D275V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SAPA	25	58	1.19e-12	SMART
SapB	65	143	9.63e-7	SMART
SapB	188	260	8.51e-8	SMART
SapB	296	370	9.82e-22	SMART
SapB	398	473	8.37e-16	SMART
SAPA	482	515	2.01e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070720

SMART Domains

Protein: ENSMUSP00000065292
Gene: ENSMUSG00000029093

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	89	103	N/A	INTRINSIC
low complexity region	106	130	N/A	INTRINSIC
Blast:VPS10	170	213	2e-22	BLAST
low complexity region	214	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135324

SMART Domains

Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093

Domain	Start	End	E-Value	Type
SCOP:d1eur__	1	111	2e-3	SMART
Blast:VPS10	1	173	1e-126	BLAST
PDB:4N7E\|A	6	117	1e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141508

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,029,012 (GRCm39)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,727,833 (GRCm39)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,277,650 (GRCm39)	E33*	probably null	Het
Arhgap29	T	C	3: 121,786,509 (GRCm39)	V358A	probably benign	Het
B3galt1	T	C	2: 67,948,728 (GRCm39)	S148P	probably damaging	Het
BC061237	A	G	14: 44,740,779 (GRCm39)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,412,047 (GRCm39)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,076,110 (GRCm39)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,249,663 (GRCm39)		probably benign	Het
Col5a2	T	C	1: 45,424,225 (GRCm39)	D1067G	probably damaging	Het
Col9a2	A	T	4: 120,910,389 (GRCm39)	R511S	probably benign	Het
Disp3	G	A	4: 148,333,658 (GRCm39)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 141,636,667 (GRCm39)	T308A	probably benign	Het
Ern1	T	C	11: 106,314,266 (GRCm39)	N178S	probably damaging	Het
Gas6	C	A	8: 13,527,136 (GRCm39)	C204F	probably damaging	Het
Gga1	T	C	15: 78,777,522 (GRCm39)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,168,279 (GRCm39)	T525A	probably benign	Het
Gse1	A	G	8: 121,304,808 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,532,958 (GRCm39)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,408,037 (GRCm39)		probably benign	Het
Htt	A	T	5: 35,034,097 (GRCm39)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 53,263,650 (GRCm39)	E716K	probably benign	Het
Kntc1	A	G	5: 123,937,874 (GRCm39)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,839,931 (GRCm39)	T211A	unknown	Het
Lin54	T	C	5: 100,628,180 (GRCm39)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,082,760 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,545,678 (GRCm39)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,500,923 (GRCm39)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,544,709 (GRCm39)	L169P	probably damaging	Het
Map9	C	A	3: 82,284,428 (GRCm39)	T334K	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,602 (GRCm39)	A338T	probably damaging	Het
Mst1	A	T	9: 107,961,841 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,549,421 (GRCm39)	F602I	probably benign	Het
Mylpf	T	A	7: 126,812,798 (GRCm39)	D98E	probably benign	Het
Naca	C	A	10: 127,883,551 (GRCm39)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,891,356 (GRCm39)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,482,341 (GRCm39)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,342,287 (GRCm39)	N123S	probably benign	Het
Patj	A	G	4: 98,299,410 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,336,923 (GRCm39)	F280L	probably benign	Het
Piezo1	A	C	8: 123,210,258 (GRCm39)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 24,905,241 (GRCm39)	I610F	possibly damaging	Het
Ptpdc1	T	A	13: 48,744,095 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,454,947 (GRCm39)	E31G	possibly damaging	Het
Sdhc	T	C	1: 170,971,124 (GRCm39)		probably benign	Het
Smim23	G	T	11: 32,770,667 (GRCm39)	P80T	probably damaging	Het
Snupn	C	T	9: 56,864,364 (GRCm39)	T21I	probably benign	Het
Tjp2	A	G	19: 24,073,996 (GRCm39)	V1097A	probably benign	Het
Ttc16	A	G	2: 32,661,939 (GRCm39)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,703,730 (GRCm39)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,633,195 (GRCm39)	V34M	probably damaging	Het
Vwf	A	C	6: 125,592,931 (GRCm39)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,411,611 (GRCm39)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,203,307 (GRCm39)	F18L	probably benign	Het

Other mutations in Psapl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Psapl1	APN	5	36,362,975 (GRCm39)	missense	probably benign
IGL01873:Psapl1	APN	5	36,362,569 (GRCm39)	missense	possibly damaging	0.66
IGL02590:Psapl1	APN	5	36,362,397 (GRCm39)	missense	probably benign
R0138:Psapl1	UTSW	5	36,361,975 (GRCm39)	missense	probably damaging	0.98
R0570:Psapl1	UTSW	5	36,361,624 (GRCm39)	missense	possibly damaging	0.89
R1313:Psapl1	UTSW	5	36,362,610 (GRCm39)	missense	probably benign	0.01
R1313:Psapl1	UTSW	5	36,362,610 (GRCm39)	missense	probably benign	0.01
R2207:Psapl1	UTSW	5	36,362,509 (GRCm39)	missense	probably damaging	1.00
R2247:Psapl1	UTSW	5	36,362,410 (GRCm39)	missense	probably benign	0.01
R4792:Psapl1	UTSW	5	36,362,547 (GRCm39)	missense	probably benign
R4865:Psapl1	UTSW	5	36,362,211 (GRCm39)	missense	probably damaging	1.00
R5101:Psapl1	UTSW	5	36,361,494 (GRCm39)	missense	probably damaging	1.00
R5947:Psapl1	UTSW	5	36,361,651 (GRCm39)	missense	probably benign	0.08
R6015:Psapl1	UTSW	5	36,361,594 (GRCm39)	missense	probably benign	0.00
R6751:Psapl1	UTSW	5	36,362,303 (GRCm39)	nonsense	probably null
R7260:Psapl1	UTSW	5	36,362,556 (GRCm39)	missense	probably benign	0.01
R8112:Psapl1	UTSW	5	36,362,919 (GRCm39)	missense	probably benign
R8852:Psapl1	UTSW	5	36,362,314 (GRCm39)	missense	probably damaging	1.00
R9169:Psapl1	UTSW	5	36,362,880 (GRCm39)	missense	possibly damaging	0.48
Z1176:Psapl1	UTSW	5	36,362,508 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18