Mutagenetix > Incidental Mutation

Incidental Mutation 'R9780:Hacl1'

734000

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 #

R9780 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31329183-31364201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31362519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 43 (V43L)

Ref Sequence

ENSEMBL: ENSMUSP00000022437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000090147] [ENSMUST00000127204] [ENSMUST00000134626] [ENSMUST00000156431] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000167175] [ENSMUST00000171414]

AlphaFold

Q9QXE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022437
AA Change: V43L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: V43L

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: ENSMUST00000090147

SMART Domains

Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:CN_hydrolase	63	287	3.9e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127204
AA Change: V43L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: V43L

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 damaging
Transcript: ENSMUST00000134626
AA Change: V43L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114879
Gene: ENSMUSG00000021884
AA Change: V43L

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	67	3e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156431
AA Change: V43L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: V43L

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

possibly damaging
Transcript: ENSMUST00000165955
AA Change: V43L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
AA Change: V43L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167066
AA Change: V43L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: V43L

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 damaging
Transcript: ENSMUST00000167175
AA Change: V43L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
AA Change: V43L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171414
AA Change: V43L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
AA Change: V43L

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,911,447 (GRCm39)	T1344A	probably benign	Het
Actrt3	T	A	3: 30,652,876 (GRCm39)	I73F	probably damaging	Het
Ankrd24	T	C	10: 81,482,196 (GRCm39)	S915P	possibly damaging	Het
Ano1	A	T	7: 144,209,358 (GRCm39)	F281I	probably damaging	Het
Arhgap42	A	G	9: 9,059,102 (GRCm39)	V148A	probably benign	Het
Arnt2	A	G	7: 83,954,426 (GRCm39)	I256T	probably benign	Het
Bloc1s3	G	A	7: 19,241,408 (GRCm39)	S40L	possibly damaging	Het
Cep68	G	A	11: 20,192,142 (GRCm39)	P19L	probably benign	Het
Chst9	T	A	18: 15,586,221 (GRCm39)	Q114L	probably benign	Het
Cpa2	T	A	6: 30,545,536 (GRCm39)	F106I	probably benign	Het
Cplane1	A	G	15: 8,258,123 (GRCm39)	E2123G	probably benign	Het
Crocc	T	C	4: 140,756,556 (GRCm39)	D1187G	probably benign	Het
Dhx8	A	T	11: 101,632,403 (GRCm39)	D454V	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif3a	A	T	19: 60,766,398 (GRCm39)	L310H	probably damaging	Het
Ergic3	C	A	2: 155,853,164 (GRCm39)	Y202*	probably null	Het
Fam117a	A	T	11: 95,268,309 (GRCm39)	I237L	possibly damaging	Het
Fcsk	T	C	8: 111,613,743 (GRCm39)	M773V	probably benign	Het
Gcnt4	T	A	13: 97,083,948 (GRCm39)	S415T	probably benign	Het
Hbb-bh2	A	G	7: 103,489,624 (GRCm39)	L4P	probably damaging	Het
Hmbs	A	G	9: 44,247,985 (GRCm39)	L357P	probably damaging	Het
Hpcal1	A	G	12: 17,836,494 (GRCm39)	Y108C	probably damaging	Het
Hspa14	A	T	2: 3,490,741 (GRCm39)	M482K	probably damaging	Het
Ifi27l2b	G	T	12: 103,417,461 (GRCm39)	P242Q	unknown	Het
Insyn1	A	G	9: 58,406,881 (GRCm39)	N264D	probably damaging	Het
Itpr1	T	C	6: 108,487,795 (GRCm39)	V2407A	probably benign	Het
Lcp1	T	C	14: 75,440,178 (GRCm39)	F154S	probably damaging	Het
Lmod2	T	C	6: 24,604,233 (GRCm39)	S403P	probably damaging	Het
Lrrc63	G	A	14: 75,360,500 (GRCm39)	A334V	probably damaging	Het
Lrriq1	T	A	10: 103,025,824 (GRCm39)	T933S	probably damaging	Het
Mga	A	G	2: 119,747,253 (GRCm39)	Y468C	probably benign	Het
Msh4	T	C	3: 153,582,342 (GRCm39)	Y510C	probably damaging	Het
Myh11	T	C	16: 14,064,613 (GRCm39)	K235R		Het
Nek2	A	T	1: 191,554,738 (GRCm39)	D150V	probably damaging	Het
Nfkbil1	C	A	17: 35,439,898 (GRCm39)	R205L	possibly damaging	Het
Nox3	A	G	17: 3,736,260 (GRCm39)	F122S	possibly damaging	Het
Nrxn1	A	G	17: 90,931,042 (GRCm39)	V718A	possibly damaging	Het
Oplah	A	G	15: 76,181,940 (GRCm39)	I1061T	probably damaging	Het
Or13e8	G	A	4: 43,697,193 (GRCm39)		probably benign	Het
Or2y16	G	A	11: 49,335,014 (GRCm39)	C112Y	possibly damaging	Het
Or51b17	A	G	7: 103,542,631 (GRCm39)	S104P	probably damaging	Het
Or9m1	A	G	2: 87,733,426 (GRCm39)	L198P	probably damaging	Het
Pcf11	A	T	7: 92,313,313 (GRCm39)	D123E	possibly damaging	Het
Pcna	C	T	2: 132,094,794 (GRCm39)	E55K	probably benign	Het
Pip5k1c	T	C	10: 81,141,030 (GRCm39)	V46A	probably benign	Het
Plce1	T	G	19: 38,609,134 (GRCm39)	L481R	possibly damaging	Het
Psma7	A	T	2: 179,678,339 (GRCm39)	Y228N	unknown	Het
Rcbtb1	T	A	14: 59,465,796 (GRCm39)	Y380N	probably benign	Het
Rin2	A	T	2: 145,718,551 (GRCm39)	E677V	probably damaging	Het
Scgb2b11	A	G	7: 31,909,861 (GRCm39)	L75P	probably damaging	Het
Scn4a	A	G	11: 106,226,235 (GRCm39)	V775A	probably damaging	Het
Setx	A	G	2: 29,016,999 (GRCm39)	D34G	possibly damaging	Het
Slc38a9	A	T	13: 112,862,591 (GRCm39)	D430V	probably damaging	Het
Snapc4	A	T	2: 26,267,019 (GRCm39)	N77K	possibly damaging	Het
Stk32a	T	G	18: 43,375,049 (GRCm39)	F20V	probably benign	Het
Taf1b	G	A	12: 24,564,818 (GRCm39)	G145D	probably damaging	Het
Tomt	G	C	7: 101,549,536 (GRCm39)	Q251E	probably benign	Het
Tsc1	G	A	2: 28,565,761 (GRCm39)	E471K	probably damaging	Het
Ttll9	G	A	2: 152,836,023 (GRCm39)	A256T	possibly damaging	Het
Ttn	A	T	2: 76,774,289 (GRCm39)	C2252S	probably benign	Het
Ttn	A	T	2: 76,785,035 (GRCm39)	D797E	unknown	Het
Usf3	T	A	16: 44,039,181 (GRCm39)	N1220K	possibly damaging	Het
Usp22	A	T	11: 61,050,069 (GRCm39)	H355Q	probably benign	Het
Virma	T	A	4: 11,513,442 (GRCm39)	V432E	possibly damaging	Het
Vtn	A	C	11: 78,393,003 (GRCm39)	D456A	probably damaging	Het
Zbbx	A	G	3: 74,945,359 (GRCm39)	S688P	probably damaging	Het
Zfhx2	C	A	14: 55,312,494 (GRCm39)	D67Y	probably benign	Het
Zfp87	T	C	13: 67,665,241 (GRCm39)	H407R	probably 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
R9139:Hacl1	UTSW	14	31,338,338 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- GATATTTGGATGTGGCAGAGTACAC -3'
(R):5'- AGGCTCTACAGAAGCAGACG -3'

Sequencing Primer
(F):5'- TACCAAATGACTCGCGTTGG -3'
(R):5'- CTCTACAGAAGCAGACGGGGAC -3'

Posted On

2022-11-14