Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:Hacd1'

383382

Institutional Source

Beutler Lab

Gene Symbol

Hacd1

Ensembl Gene

ENSMUSG00000063275

Gene Name

3-hydroxyacyl-CoA dehydratase 1

Synonyms

Ptpla

MMRRC Submission

042543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14031642-14060846 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 14049948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074854] [ENSMUST00000074854] [ENSMUST00000091429] [ENSMUST00000091429] [ENSMUST00000114753] [ENSMUST00000114753] [ENSMUST00000131730]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000074854

SMART Domains

Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:PTPLA	79	242	1.7e-60	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000074854

SMART Domains

Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:PTPLA	79	242	1.7e-60	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091429

SMART Domains

Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:PTPLA	79	144	5.3e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091429

SMART Domains

Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:PTPLA	79	144	5.3e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114753

SMART Domains

Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:PTPLA	79	240	3e-61	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114753

SMART Domains

Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:PTPLA	79	240	3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131730

SMART Domains

Protein: ENSMUSP00000141406
Gene: ENSMUSG00000063275

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:PTPLA	79	144	5.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195416

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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 contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout leads to decreased body size and weight and reduced skeletal muscle weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,977,300 (GRCm39)	D98G	probably damaging	Het
Adgre1	G	A	17: 57,750,918 (GRCm39)	V531I	probably benign	Het
Aldoart2	A	G	12: 55,612,801 (GRCm39)	Q242R	probably benign	Het
Ank2	A	T	3: 126,735,589 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,733,947 (GRCm39)	A737V	probably damaging	Het
Ankle2	A	G	5: 110,401,704 (GRCm39)	I789V	probably benign	Het
Ankrd13c	T	C	3: 157,711,410 (GRCm39)	V510A	probably damaging	Het
Arid1b	T	A	17: 5,393,118 (GRCm39)	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,815,860 (GRCm39)	V380A	probably benign	Het
B3galt1	C	A	2: 67,948,913 (GRCm39)	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,887,731 (GRCm39)	C224S	probably benign	Het
Cdk4	T	C	10: 126,900,759 (GRCm39)		probably null	Het
Cdk5rap1	T	C	2: 154,210,794 (GRCm39)	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831 (GRCm39)	R92*	probably null	Het
Cnga1	A	G	5: 72,762,107 (GRCm39)	V469A	probably damaging	Het
Ctns	A	G	11: 73,087,479 (GRCm39)	F16L	probably benign	Het
Dlg5	A	T	14: 24,204,429 (GRCm39)	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,530,783 (GRCm39)	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,703 (GRCm39)	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,388,050 (GRCm39)	V3170M	probably damaging	Het
Dpp8	T	C	9: 64,963,200 (GRCm39)	Y485H	probably benign	Het
Dsc2	T	C	18: 20,183,214 (GRCm39)	D68G	probably damaging	Het
Eeig2	A	G	3: 108,887,544 (GRCm39)	V240A	probably benign	Het
Elavl1	A	T	8: 4,351,752 (GRCm39)	D121E	probably benign	Het
Ermap	A	G	4: 119,040,505 (GRCm39)	V311A	probably damaging	Het
Fbxw11	C	T	11: 32,689,226 (GRCm39)	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,249,634 (GRCm39)	M495V	probably benign	Het
Itgav	A	G	2: 83,619,327 (GRCm39)	R596G	probably benign	Het
Kars1	T	C	8: 112,728,352 (GRCm39)	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,144,228 (GRCm39)	R1494H	probably damaging	Het
Klf12	G	A	14: 100,260,393 (GRCm39)	S112L	possibly damaging	Het
Krt77	T	C	15: 101,777,998 (GRCm39)	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,460,834 (GRCm39)	T487A	probably benign	Het
Lrrn1	A	G	6: 107,545,851 (GRCm39)	M550V	probably benign	Het
Lsr	C	A	7: 30,657,634 (GRCm39)	R442L	probably benign	Het
Lysmd2	A	C	9: 75,542,728 (GRCm39)	T112P	probably damaging	Het
Mctp2	A	T	7: 71,909,017 (GRCm39)	S99T	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mill2	T	A	7: 18,590,608 (GRCm39)		probably null	Het
Mpp3	T	C	11: 101,895,848 (GRCm39)	N476D	probably benign	Het
Mtmr6	C	T	14: 60,517,638 (GRCm39)	P83L	possibly damaging	Het
Myh3	T	C	11: 66,984,364 (GRCm39)	I1067T	probably benign	Het
Myh9	C	A	15: 77,657,540 (GRCm39)	Q1068H	probably damaging	Het
Narf	T	A	11: 121,141,179 (GRCm39)	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 125,995,784 (GRCm39)	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,112,618 (GRCm39)	P426Q	probably damaging	Het
Or10aa3	T	G	1: 173,878,400 (GRCm39)	S154A	possibly damaging	Het
Or4e1	G	A	14: 52,700,740 (GRCm39)	T242I	probably damaging	Het
Or4f4b	T	C	2: 111,314,311 (GRCm39)	Y207H	possibly damaging	Het
Or51i1	T	A	7: 103,671,219 (GRCm39)	Q102L	probably damaging	Het
Or5p5	A	G	7: 107,414,589 (GRCm39)	H266R	possibly damaging	Het
Pcdh10	A	T	3: 45,333,917 (GRCm39)	E77V	probably damaging	Het
Pcnt	C	T	10: 76,192,019 (GRCm39)	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 125,097,324 (GRCm39)	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,290,333 (GRCm39)	T142N	probably benign	Het
Plcb1	A	G	2: 135,187,015 (GRCm39)	I761V	probably benign	Het
Plekhg4	T	G	8: 106,108,628 (GRCm39)	D1196E	probably null	Het
Pparg	A	G	6: 115,427,989 (GRCm39)	K159E	probably damaging	Het
Psmb1	A	T	17: 15,718,478 (GRCm39)	M16K	probably benign	Het
Ptprq	T	C	10: 107,361,595 (GRCm39)	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,282,887 (GRCm39)	S239T	probably damaging	Het
Serpina11	A	G	12: 103,950,923 (GRCm39)	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,639,947 (GRCm39)		probably benign	Het
Smim18	T	C	8: 34,232,587 (GRCm39)	T11A	possibly damaging	Het
Snx6	G	A	12: 54,817,528 (GRCm39)	T7I	probably damaging	Het
Srcin1	T	A	11: 97,442,768 (GRCm39)	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174 (GRCm39)	S223T	probably damaging	Het
Taf4b	G	T	18: 14,946,599 (GRCm39)	C474F	probably damaging	Het
Tango6	T	A	8: 107,444,722 (GRCm39)	C542*	probably null	Het
Tbc1d24	A	G	17: 24,427,510 (GRCm39)	S151P	possibly damaging	Het
Tssk6	T	C	8: 70,355,714 (GRCm39)	S253P	probably benign	Het
Ttc39c	G	A	18: 12,857,999 (GRCm39)	W300*	probably null	Het
Ttc6	T	A	12: 57,689,926 (GRCm39)	W539R	probably benign	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ttn	C	A	2: 76,749,053 (GRCm39)	E3999*	probably null	Het
Vill	T	G	9: 118,897,508 (GRCm39)	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,409,159 (GRCm39)	S162P	probably damaging	Het
Zfp516	T	C	18: 82,974,219 (GRCm39)	I139T	probably benign	Het

Other mutations in Hacd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Hacd1	APN	2	14,040,667 (GRCm39)	missense	probably benign	0.04
IGL01623:Hacd1	APN	2	14,040,667 (GRCm39)	missense	probably benign	0.04
IGL01884:Hacd1	APN	2	14,040,593 (GRCm39)	missense	probably damaging	1.00
IGL02214:Hacd1	APN	2	14,031,758 (GRCm39)	missense	probably damaging	1.00
IGL02529:Hacd1	APN	2	14,050,013 (GRCm39)	missense	probably damaging	1.00
R2340:Hacd1	UTSW	2	14,040,698 (GRCm39)	missense	probably damaging	1.00
R3429:Hacd1	UTSW	2	14,049,586 (GRCm39)	splice site	probably benign
R5103:Hacd1	UTSW	2	14,045,724 (GRCm39)	missense	probably damaging	1.00
R6468:Hacd1	UTSW	2	14,040,755 (GRCm39)	missense	probably damaging	0.98
R6626:Hacd1	UTSW	2	14,031,755 (GRCm39)	missense	probably benign	0.10
R6957:Hacd1	UTSW	2	14,049,664 (GRCm39)	missense	probably damaging	1.00
R7643:Hacd1	UTSW	2	14,049,602 (GRCm39)	missense	probably damaging	1.00
R7862:Hacd1	UTSW	2	14,050,013 (GRCm39)	missense	probably damaging	1.00
R8146:Hacd1	UTSW	2	14,049,605 (GRCm39)	missense	probably damaging	1.00
R8905:Hacd1	UTSW	2	14,049,761 (GRCm39)	missense	possibly damaging	0.89
R9632:Hacd1	UTSW	2	14,040,678 (GRCm39)	missense	possibly damaging	0.71
R9782:Hacd1	UTSW	2	14,040,751 (GRCm39)	missense	possibly damaging	0.94
Z1176:Hacd1	UTSW	2	14,040,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGCAACTCACCGATCAG -3'
(R):5'- ATAACGCTGCCATCATTGCATG -3'

Sequencing Primer
(F):5'- CGATCAGACAATGGACTACCTGG -3'
(R):5'- GCCATCATTGCATGCATGTATCAG -3'

Posted On

2016-04-27