Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Hacd4'

94171

Institutional Source

Beutler Lab

Gene Symbol

Hacd4

Ensembl Gene

ENSMUSG00000028497

Gene Name

3-hydroxyacyl-CoA dehydratase 4

Synonyms

Ptplad2, 4933428I03Rik

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88325924-88357175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88341264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 152 (W152R)

Ref Sequence

ENSEMBL: ENSMUSP00000030221 (fasta)

Gene Model

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

AlphaFold

A2AKM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030221
AA Change: W152R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
AA Change: W152R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132493
AA Change: W167R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
AA Change: W167R

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: W171R

SMART Domains

Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
AA Change: W171R

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm39)	D105N	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Mup5	A	T	4: 61,750,871 (GRCm39)	S145R	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,635 (GRCm39)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm39)	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,865,332 (GRCm39)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	probably benign	Het

Other mutations in Hacd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Hacd4	APN	4	88,341,285 (GRCm39)	missense	probably damaging	0.98
PIT4260001:Hacd4	UTSW	4	88,316,343 (GRCm39)	nonsense	probably null
PIT4260001:Hacd4	UTSW	4	88,316,342 (GRCm39)	missense	unknown
R0597:Hacd4	UTSW	4	88,355,757 (GRCm39)	missense	probably damaging	1.00
R0625:Hacd4	UTSW	4	88,353,247 (GRCm39)	missense	probably benign	0.04
R1069:Hacd4	UTSW	4	88,355,739 (GRCm39)	missense	probably damaging	0.99
R1478:Hacd4	UTSW	4	88,341,260 (GRCm39)	missense	probably damaging	1.00
R1944:Hacd4	UTSW	4	88,341,303 (GRCm39)	missense	possibly damaging	0.73
R2339:Hacd4	UTSW	4	88,341,336 (GRCm39)	critical splice acceptor site	probably null
R3177:Hacd4	UTSW	4	88,355,747 (GRCm39)	missense	probably damaging	1.00
R3277:Hacd4	UTSW	4	88,355,747 (GRCm39)	missense	probably damaging	1.00
R3902:Hacd4	UTSW	4	88,355,738 (GRCm39)	missense	probably damaging	1.00
R4429:Hacd4	UTSW	4	88,353,184 (GRCm39)	missense	possibly damaging	0.50
R5834:Hacd4	UTSW	4	88,316,389 (GRCm39)	missense	probably benign	0.00
R6242:Hacd4	UTSW	4	88,332,524 (GRCm39)	missense	probably benign
R7252:Hacd4	UTSW	4	88,345,000 (GRCm39)	missense	possibly damaging	0.73
R7508:Hacd4	UTSW	4	88,355,715 (GRCm39)	missense	probably benign	0.06
R7857:Hacd4	UTSW	4	88,355,702 (GRCm39)	missense	probably damaging	1.00
R8523:Hacd4	UTSW	4	88,353,286 (GRCm39)	missense	probably damaging	1.00
R9096:Hacd4	UTSW	4	88,355,695 (GRCm39)	critical splice donor site	probably null
R9162:Hacd4	UTSW	4	88,338,017 (GRCm39)	missense	probably benign	0.37
X0004:Hacd4	UTSW	4	88,341,245 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGATGGCAAGGACTTGGGC -3'
(R):5'- CGGGTTTCCTCCTGCAACAATACAC -3'

Sequencing Primer
(F):5'- tctttgtgacagtgcccc -3'
(R):5'- ATAAAGCATGTAATTCCCACTTCC -3'

Posted On

2014-01-05