Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Hacd4'

86122

Institutional Source

Beutler Lab

Gene Symbol

Hacd4

Ensembl Gene

ENSMUSG00000028497

Gene Name

3-hydroxyacyl-CoA dehydratase 4

Synonyms

4933428I03Rik, Ptplad2

MMRRC Submission

039155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R1069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88396144-88438928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88437502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 49 (I49L)

Ref Sequence

ENSEMBL: ENSMUSP00000119411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000132493]

AlphaFold

A2AKM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030221
AA Change: I34L

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
AA Change: I34L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PTPLA	65	226	3.4e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132493
AA Change: I49L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
AA Change: I49L

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:PTPLA	80	234	1.5e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000151280
AA Change: I53L

SMART Domains

Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
AA Change: I53L

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:PTPLA	85	244	3e-37	PFAM

Meta Mutation Damage Score

0.1608

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	G	A	9: 41,590,298	R151H	possibly damaging	Het
4921524L21Rik	A	G	18: 6,624,037	N106S	probably benign	Het
Akr1c21	C	A	13: 4,575,334		probably benign	Het
Alpk2	G	A	18: 65,305,014	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,531,018	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,455,611	R252I	probably damaging	Het
Cars	T	C	7: 143,570,107	T480A	probably benign	Het
Ccnf	A	T	17: 24,223,997	C745*	probably null	Het
Ccr8	A	G	9: 120,094,217	I133V	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dgkq	T	C	5: 108,656,037		probably benign	Het
Ecd	A	G	14: 20,333,436	C312R	probably damaging	Het
Epp13	A	T	7: 6,255,922		probably null	Het
Gstm1	T	C	3: 108,012,748	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hid1	T	C	11: 115,356,765	N269S	probably damaging	Het
Ifitm3	A	T	7: 141,009,900		probably benign	Het
Kctd9	C	T	14: 67,729,420		probably benign	Het
Kif20b	T	C	19: 34,950,851	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,178,153	T33A	probably damaging	Het
Lipc	T	C	9: 70,823,537	T38A	probably benign	Het
Lrguk	A	C	6: 34,048,883	I205L	possibly damaging	Het
Ncapg	T	A	5: 45,675,930		probably benign	Het
Ptprd	A	G	4: 75,998,487		probably benign	Het
Ptprd	T	A	4: 76,100,633	K635*	probably null	Het
Sap130	G	A	18: 31,711,629	V898I	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,957,825	R7K	probably benign	Het
Tfpi	A	G	2: 84,453,792		probably benign	Het
Trim80	T	C	11: 115,448,083	C580R	probably damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	Het

Other mutations in Hacd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Hacd4	APN	4	88423048	missense	probably damaging	0.98
PIT4260001:Hacd4	UTSW	4	88398105	missense	unknown
PIT4260001:Hacd4	UTSW	4	88398106	nonsense	probably null
R0597:Hacd4	UTSW	4	88437520	missense	probably damaging	1.00
R0625:Hacd4	UTSW	4	88435010	missense	probably benign	0.04
R1054:Hacd4	UTSW	4	88423027	missense	probably damaging	0.96
R1478:Hacd4	UTSW	4	88423023	missense	probably damaging	1.00
R1944:Hacd4	UTSW	4	88423066	missense	possibly damaging	0.73
R2339:Hacd4	UTSW	4	88423099	critical splice acceptor site	probably null
R3177:Hacd4	UTSW	4	88437510	missense	probably damaging	1.00
R3277:Hacd4	UTSW	4	88437510	missense	probably damaging	1.00
R3902:Hacd4	UTSW	4	88437501	missense	probably damaging	1.00
R4429:Hacd4	UTSW	4	88434947	missense	possibly damaging	0.50
R5834:Hacd4	UTSW	4	88398152	missense	probably benign	0.00
R6242:Hacd4	UTSW	4	88414287	missense	probably benign
R7252:Hacd4	UTSW	4	88426763	missense	possibly damaging	0.73
R7508:Hacd4	UTSW	4	88437478	missense	probably benign	0.06
R7857:Hacd4	UTSW	4	88437465	missense	probably damaging	1.00
R8523:Hacd4	UTSW	4	88435049	missense	probably damaging	1.00
R9096:Hacd4	UTSW	4	88437458	critical splice donor site	probably null
R9162:Hacd4	UTSW	4	88419780	missense	probably benign	0.37
X0004:Hacd4	UTSW	4	88423008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGTTCCAGATGCAGGATGCAAG -3'
(R):5'- GGAGTTCAAGCTGCCCAAATCAGTC -3'

Sequencing Primer
(F):5'- CAGATGCAGGATGCAAGAAGTTC -3'
(R):5'- AAATCAGTCCCTTTGCGTCAG -3'

Posted On

2013-11-18