Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Hacd1'

590328

Institutional Source

Beutler Lab

Gene Symbol

Hacd1

Ensembl Gene

ENSMUSG00000063275

Gene Name

3-hydroxyacyl-CoA dehydratase 1

Synonyms

Ptpla

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

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

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14031642-14060846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14049602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 119 (I119V)

Ref Sequence

ENSEMBL: ENSMUSP00000088998 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074854
AA Change: I119V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: I119V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091429
AA Change: I119V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275
AA Change: I119V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114753
AA Change: I119V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: I119V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131730
AA Change: I119V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141406
Gene: ENSMUSG00000063275
AA Change: I119V

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

Meta Mutation Damage Score

0.0896

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	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
R4946:Hacd1	UTSW	2	14,049,948 (GRCm39)	critical splice donor site	probably null
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
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'- TGTGTTCACATCCAGAAAACACAG -3'
(R):5'- GGTTTCTCAATTTCCCTCCAGGTAG -3'

Sequencing Primer
(F):5'- CACAGGGGGAGATGCTATTAAC -3'
(R):5'- CCAGGTAGTCCATTGTCTGATCG -3'

Posted On

2019-10-24