Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Hacl1'

192356

Institutional Source

Beutler Lab

Gene Symbol

Hacl1

Ensembl Gene

ENSMUSG00000021884

Gene Name

2-hydroxyacyl-CoA lyase 1

Synonyms

Hpcl, Phyh2

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31598730-31641286 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 31621000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000127204] [ENSMUST00000127204] [ENSMUST00000156431] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000167066] [ENSMUST00000167175] [ENSMUST00000171414]

AlphaFold

Q9QXE0

Predicted Effect

probably null
Transcript: ENSMUST00000022437

SMART Domains

Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	185	6.1e-46	PFAM
Pfam:TPP_enzyme_M	206	335	1.9e-34	PFAM
Pfam:TPP_enzyme_C	400	560	1.6e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000127204

SMART Domains

Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	81	1.3e-14	PFAM
Pfam:TPP_enzyme_N	75	159	3.3e-14	PFAM
Pfam:TPP_enzyme_M	179	310	1.5e-34	PFAM
Pfam:TPP_enzyme_C	373	533	7.2e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000127204

SMART Domains

Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	81	1.3e-14	PFAM
Pfam:TPP_enzyme_N	75	159	3.3e-14	PFAM
Pfam:TPP_enzyme_M	179	310	1.5e-34	PFAM
Pfam:TPP_enzyme_C	373	533	7.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156431

SMART Domains

Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	186	3.3e-46	PFAM
Pfam:TPP_enzyme_M	206	337	2.1e-34	PFAM
Pfam:TPP_enzyme_C	400	560	1.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165955

SMART Domains

Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	105	3.7e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167066

SMART Domains

Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	131	2.5e-33	PFAM
Pfam:TPP_enzyme_M	180	311	4.7e-34	PFAM
Pfam:TPP_enzyme_C	340	500	6.4e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167066

SMART Domains

Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	131	2.5e-33	PFAM
Pfam:TPP_enzyme_M	180	311	4.7e-34	PFAM
Pfam:TPP_enzyme_C	340	500	6.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167175

SMART Domains

Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	139	3.6e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171414

SMART Domains

Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	109	1.3e-27	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Hacl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Hacl1	APN	14	31626417	missense	probably benign	0.04
IGL01548:Hacl1	APN	14	31640596	missense	possibly damaging	0.78
IGL01952:Hacl1	APN	14	31641122	unclassified	probably benign
IGL02059:Hacl1	APN	14	31632934	missense	probably benign	0.00
IGL02138:Hacl1	APN	14	31630983	missense	probably benign	0.05
IGL02637:Hacl1	APN	14	31640501	missense	probably damaging	1.00
IGL03235:Hacl1	APN	14	31631038	nonsense	probably null
R0502:Hacl1	UTSW	14	31622984	splice site	probably benign
R1800:Hacl1	UTSW	14	31614264	missense	probably damaging	1.00
R1829:Hacl1	UTSW	14	31640534	missense	probably benign	0.00
R3937:Hacl1	UTSW	14	31634191	splice site	probably benign
R3938:Hacl1	UTSW	14	31634191	splice site	probably benign
R5004:Hacl1	UTSW	14	31619039	missense	probably benign
R5776:Hacl1	UTSW	14	31622871	missense	possibly damaging	0.90
R5868:Hacl1	UTSW	14	31619916	missense	probably damaging	1.00
R5929:Hacl1	UTSW	14	31616388	missense	probably benign	0.04
R6261:Hacl1	UTSW	14	31635771	missense	probably damaging	1.00
R6996:Hacl1	UTSW	14	31615423	missense	possibly damaging	0.96
R7298:Hacl1	UTSW	14	31616486	missense	probably damaging	1.00
R7768:Hacl1	UTSW	14	31616480	missense	probably damaging	1.00
R7887:Hacl1	UTSW	14	31634227	missense	probably damaging	1.00
R8384:Hacl1	UTSW	14	31634197	critical splice donor site	probably null
R9139:Hacl1	UTSW	14	31616381	missense	probably benign	0.00
R9571:Hacl1	UTSW	14	31622881	missense	possibly damaging	0.72
R9598:Hacl1	UTSW	14	31610240	missense	probably benign	0.05
R9780:Hacl1	UTSW	14	31640562	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGGTTACAGGACTTTCCAGGGACTC -3'
(R):5'- AGTGTCATTGAGCCCTTGTTAAACCTC -3'

Sequencing Primer
(F):5'- GACTTTCCAGGGACTCAGTCTAATG -3'
(R):5'- CCTCCTTTTCTTCTTCAACAGG -3'

Posted On

2014-05-14