Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Hacl1'

694237

Institutional Source

Beutler Lab

Gene Symbol

Hacl1

Ensembl Gene

ENSMUSG00000021884

Gene Name

2-hydroxyacyl-CoA lyase 1

Synonyms

Phyh2, Hpcl, 1600020H07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31329183-31364201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31338338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 413 (Q413L)

Ref Sequence

ENSEMBL: ENSMUSP00000022437 (fasta)

Gene Model

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

AlphaFold

Q9QXE0

Predicted Effect

probably benign
Transcript: ENSMUST00000022437
AA Change: Q413L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: Q413L

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 benign
Transcript: ENSMUST00000127204
AA Change: Q386L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: Q386L

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: ENSMUST00000140078

Predicted Effect

probably benign
Transcript: ENSMUST00000156431
AA Change: Q413L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: Q413L

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 benign
Transcript: ENSMUST00000167066
AA Change: Q353L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: Q353L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly damaging	Het

Other mutations in Hacl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Hacl1	APN	14	31,348,374 (GRCm39)	missense	probably benign	0.04
IGL01548:Hacl1	APN	14	31,362,553 (GRCm39)	missense	possibly damaging	0.78
IGL01952:Hacl1	APN	14	31,363,079 (GRCm39)	unclassified	probably benign
IGL02059:Hacl1	APN	14	31,354,891 (GRCm39)	missense	probably benign	0.00
IGL02138:Hacl1	APN	14	31,352,940 (GRCm39)	missense	probably benign	0.05
IGL02637:Hacl1	APN	14	31,362,458 (GRCm39)	missense	probably damaging	1.00
IGL03235:Hacl1	APN	14	31,352,995 (GRCm39)	nonsense	probably null
R0502:Hacl1	UTSW	14	31,344,941 (GRCm39)	splice site	probably benign
R1697:Hacl1	UTSW	14	31,342,957 (GRCm39)	splice site	probably null
R1800:Hacl1	UTSW	14	31,336,221 (GRCm39)	missense	probably damaging	1.00
R1829:Hacl1	UTSW	14	31,362,491 (GRCm39)	missense	probably benign	0.00
R3937:Hacl1	UTSW	14	31,356,148 (GRCm39)	splice site	probably benign
R3938:Hacl1	UTSW	14	31,356,148 (GRCm39)	splice site	probably benign
R5004:Hacl1	UTSW	14	31,340,996 (GRCm39)	missense	probably benign
R5776:Hacl1	UTSW	14	31,344,828 (GRCm39)	missense	possibly damaging	0.90
R5868:Hacl1	UTSW	14	31,341,873 (GRCm39)	missense	probably damaging	1.00
R5929:Hacl1	UTSW	14	31,338,345 (GRCm39)	missense	probably benign	0.04
R6261:Hacl1	UTSW	14	31,357,728 (GRCm39)	missense	probably damaging	1.00
R6996:Hacl1	UTSW	14	31,337,380 (GRCm39)	missense	possibly damaging	0.96
R7298:Hacl1	UTSW	14	31,338,443 (GRCm39)	missense	probably damaging	1.00
R7768:Hacl1	UTSW	14	31,338,437 (GRCm39)	missense	probably damaging	1.00
R7887:Hacl1	UTSW	14	31,356,184 (GRCm39)	missense	probably damaging	1.00
R8384:Hacl1	UTSW	14	31,356,154 (GRCm39)	critical splice donor site	probably null
R9571:Hacl1	UTSW	14	31,344,838 (GRCm39)	missense	possibly damaging	0.72
R9598:Hacl1	UTSW	14	31,332,197 (GRCm39)	missense	probably benign	0.05
R9780:Hacl1	UTSW	14	31,362,519 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTGTAACTCCAGTTCCAGGG -3'
(R):5'- CACAGTAACTTTCATGATGTCCC -3'

Sequencing Primer
(F):5'- TAACTCCAGTTCCAGGGGATCC -3'
(R):5'- GGAACTGGCTTCCCAAAA -3'

Posted On

2022-01-20