Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02729:Pced1a'

305373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

Fam113a, A930025D01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02729

Quality Score

Status

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130421903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 276 (H276Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000089581] [ENSMUST00000110277] [ENSMUST00000128994]

AlphaFold

Q6P1Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000028900

SMART Domains

Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	420	1e-166	PFAM
low complexity region	452	462	N/A	INTRINSIC
Pfam:Vps16_C	517	835	5.5e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089581
AA Change: H276Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: H276Q

Domain	Start	End	E-Value	Type
Pfam:PC-Esterase	18	267	4e-52	PFAM
low complexity region	308	346	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110277
AA Change: H276Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: H276Q

Domain	Start	End	E-Value	Type
Pfam:PC-Esterase	21	268	3.8e-51	PFAM
low complexity region	308	346	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125973

Predicted Effect

probably benign
Transcript: ENSMUST00000128994

SMART Domains

Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	212	3.2e-74	PFAM
Pfam:Vps16_N	205	316	1e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153663

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,280,481	E1358G	probably benign	Het
Alpk1	T	A	3: 127,681,072	L427F	possibly damaging	Het
Atat1	T	C	17: 35,898,391	T326A	probably benign	Het
Calcr	T	A	6: 3,707,595	H235L	probably benign	Het
Cdc16	A	G	8: 13,779,250	D512G	possibly damaging	Het
Cilp	G	A	9: 65,278,090	R489Q	possibly damaging	Het
Ddx4	C	T	13: 112,651,412		probably benign	Het
Dennd1c	T	C	17: 57,066,637	D612G	probably benign	Het
Hyal6	A	C	6: 24,734,695	Y209S	probably damaging	Het
Irf4	T	C	13: 30,753,591		probably null	Het
Itgae	T	C	11: 73,118,203		probably benign	Het
L3mbtl4	C	T	17: 68,484,743	T272I	probably benign	Het
Lyst	T	C	13: 13,674,339	I2037T	possibly damaging	Het
Lyst	C	A	13: 13,746,609	P3380Q	possibly damaging	Het
Mgat4b	A	G	11: 50,233,309	I359V	probably benign	Het
Mybl1	A	T	1: 9,672,570	D604E	probably benign	Het
Myh7b	A	T	2: 155,625,689	S745C	probably damaging	Het
Olfr155	C	A	4: 43,854,439	N43K	probably damaging	Het
Olfr51	T	C	11: 51,007,065	F31S	probably damaging	Het
Olfr805	T	G	10: 129,723,521	I8L	probably benign	Het
Pdx1	C	A	5: 147,274,614	P215Q	probably benign	Het
Pdzd7	T	C	19: 45,045,643	M1V	probably null	Het
Prrc2b	T	A	2: 32,208,758	M621K	probably damaging	Het
Ptprh	T	G	7: 4,580,874	N240H	probably damaging	Het
Rsph1	T	A	17: 31,273,319	E91V	probably damaging	Het
Scn1a	A	G	2: 66,299,650	C1274R	probably damaging	Het
Skint7	C	A	4: 111,982,170	F220L	probably benign	Het
Skiv2l	G	A	17: 34,839,605	P1179S	possibly damaging	Het
Slit1	T	A	19: 41,603,334	Y1283F	probably damaging	Het
Taf1b	A	G	12: 24,547,625		probably benign	Het
Tarsl2	C	T	7: 65,682,819	T556M	probably damaging	Het
Utrn	A	G	10: 12,720,810		probably benign	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het
Zfp276	T	C	8: 123,267,816	Y541H	probably damaging	Het
Zfp40	C	T	17: 23,178,311	V3I	probably damaging	Het
Zfp536	T	A	7: 37,493,718	H766L	probably damaging	Het
Zfyve21	A	G	12: 111,825,051	I157V	probably benign	Het

Other mutations in Pced1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pced1a	APN	2	130419178	missense	probably benign	0.00
IGL02173:Pced1a	APN	2	130422328	missense	possibly damaging	0.46
IGL02547:Pced1a	APN	2	130419707	missense	possibly damaging	0.74
IGL03107:Pced1a	APN	2	130422835	missense	possibly damaging	0.81
R0139:Pced1a	UTSW	2	130421907	missense	probably benign	0.00
R0550:Pced1a	UTSW	2	130419633	missense	probably benign	0.00
R0578:Pced1a	UTSW	2	130419843	missense	probably damaging	0.98
R3037:Pced1a	UTSW	2	130419859	missense	probably benign	0.40
R3157:Pced1a	UTSW	2	130419767	missense	probably benign	0.12
R4578:Pced1a	UTSW	2	130422676	missense	probably damaging	1.00
R5306:Pced1a	UTSW	2	130419171	missense	probably benign
R6210:Pced1a	UTSW	2	130421919	missense	probably damaging	1.00
R7444:Pced1a	UTSW	2	130422059	missense	probably damaging	0.98
R7459:Pced1a	UTSW	2	130419824	missense	possibly damaging	0.59
R7524:Pced1a	UTSW	2	130422028	missense	probably benign	0.44
R7744:Pced1a	UTSW	2	130422052	missense	probably damaging	1.00
R7782:Pced1a	UTSW	2	130422515	missense	probably damaging	0.99
R7851:Pced1a	UTSW	2	130422316	missense	probably damaging	0.99
R8300:Pced1a	UTSW	2	130424237	unclassified	probably benign
R8404:Pced1a	UTSW	2	130423657	unclassified	probably benign
R8502:Pced1a	UTSW	2	130423657	unclassified	probably benign
R8990:Pced1a	UTSW	2	130422551	missense	probably damaging	1.00
Z1177:Pced1a	UTSW	2	130422628	missense	probably damaging	1.00

Posted On

2015-04-16