Mutagenetix > Incidental Mutation

Incidental Mutation 'R9598:Hacl1'

723412

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 #

R9598 (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 31332197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 525 (M525I)

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: M525I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: M525I

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: M498I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: M498I

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
AA Change: M525I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: M525I

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: M465I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: M465I

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,604 (GRCm39)	I302V	probably benign	Het
Ackr2	A	C	9: 121,737,657 (GRCm39)	T11P	possibly damaging	Het
Ahnak	A	G	19: 8,981,149 (GRCm39)	N811S	probably benign	Het
Atm	T	C	9: 53,431,381 (GRCm39)	I326V	probably benign	Het
Ccn4	T	A	15: 66,784,764 (GRCm39)	C146S	possibly damaging	Het
Cdh23	A	T	10: 60,214,574 (GRCm39)	F1480L	probably benign	Het
Celsr2	T	C	3: 108,322,578 (GRCm39)	E78G	possibly damaging	Het
Ces1f	A	T	8: 93,983,494 (GRCm39)	N504K	probably benign	Het
Chrna4	G	A	2: 180,679,264 (GRCm39)	S61L	probably damaging	Het
Clcn3	G	T	8: 61,366,061 (GRCm39)	T864K	unknown	Het
Cym	A	C	3: 107,126,941 (GRCm39)	D71E	possibly damaging	Het
Ddx19b	T	C	8: 111,747,673 (GRCm39)	D87G	probably benign	Het
Dnah7b	T	C	1: 46,292,621 (GRCm39)	V3002A	possibly damaging	Het
Dnmt3a	G	A	12: 3,946,997 (GRCm39)	G408S	probably benign	Het
Dock10	A	T	1: 80,625,939 (GRCm39)	D66E	probably benign	Het
Dsg3	A	G	18: 20,672,789 (GRCm39)	D820G	probably damaging	Het
Dst	G	A	1: 34,153,014 (GRCm39)	V92I	possibly damaging	Het
Dusp16	T	A	6: 134,695,185 (GRCm39)	T549S	probably benign	Het
Ephx1	T	A	1: 180,827,381 (GRCm39)	K91*	probably null	Het
Flii	A	G	11: 60,617,991 (GRCm39)	F9L	probably benign	Het
Fmn2	T	C	1: 174,436,308 (GRCm39)	S760P	unknown	Het
Fmnl3	A	T	15: 99,223,210 (GRCm39)	V378E	probably damaging	Het
Gbp4	A	G	5: 105,284,740 (GRCm39)	S50P	probably damaging	Het
Glra3	G	T	8: 56,393,718 (GRCm39)		probably benign	Het
Gm10188	T	C	1: 132,157,033 (GRCm39)	D111G	unknown	Het
Gnptab	A	T	10: 88,247,876 (GRCm39)	E101V	probably damaging	Het
Hid1	T	A	11: 115,239,738 (GRCm39)	T731S	probably damaging	Het
Ifi203	T	C	1: 173,751,522 (GRCm39)	Y847C	probably damaging	Het
Igfbpl1	C	A	4: 45,815,472 (GRCm39)	L221F	probably null	Het
Ighv1-12	A	G	12: 114,579,757 (GRCm39)	Y22H	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
L3mbtl4	T	A	17: 68,866,767 (GRCm39)	H335Q	probably benign	Het
Mapre2	A	G	18: 24,016,707 (GRCm39)	D287G	probably benign	Het
Mfsd14b	G	A	13: 65,214,522 (GRCm39)	R477W	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Msh4	A	T	3: 153,607,148 (GRCm39)	S131T	possibly damaging	Het
Nat8f2	A	T	6: 85,844,848 (GRCm39)	D171E	probably benign	Het
Ndufb5	G	T	3: 32,795,881 (GRCm39)	L24F	probably benign	Het
Nkain2	T	C	10: 32,278,291 (GRCm39)	I45V	probably damaging	Het
Nlrp9b	T	G	7: 19,753,302 (GRCm39)	M69R	probably benign	Het
Or4k37	A	T	2: 111,159,633 (GRCm39)	R290*	probably null	Het
Or5d39	A	C	2: 87,979,935 (GRCm39)	C143G	probably damaging	Het
Or5d46	A	T	2: 88,170,821 (GRCm39)	K304I	possibly damaging	Het
Oxct2b	T	A	4: 123,010,413 (GRCm39)	V111E	possibly damaging	Het
Parva	T	A	7: 112,187,753 (GRCm39)	V350D	probably damaging	Het
Pcdhb7	A	G	18: 37,475,434 (GRCm39)	D190G	probably damaging	Het
Pik3c2b	T	C	1: 133,012,725 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,985,484 (GRCm39)	Q19L	possibly damaging	Het
Prag1	A	G	8: 36,571,069 (GRCm39)	N551D	probably benign	Het
Rb1cc1	G	A	1: 6,310,189 (GRCm39)	V196I	probably damaging	Het
Rnf113a2	T	C	12: 84,464,270 (GRCm39)	V54A	probably benign	Het
Sec14l1	G	A	11: 117,044,102 (GRCm39)	E537K	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shtn1	T	A	19: 59,026,735 (GRCm39)	I119F	probably damaging	Het
Szt2	A	G	4: 118,266,358 (GRCm39)		probably null	Het
Tasp1	T	C	2: 139,819,567 (GRCm39)	D212G	probably benign	Het
Tmpo	A	G	10: 90,994,608 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,489,718 (GRCm39)	K403R	probably benign	Het
Vcpip1	A	G	1: 9,816,019 (GRCm39)	V788A	probably benign	Het
Wdr25	C	A	12: 108,864,613 (GRCm39)	H253N	probably benign	Het
Wwc2	G	A	8: 48,328,360 (GRCm39)	S367L	probably damaging	Het
Zfr	A	G	15: 12,162,292 (GRCm39)	E814G	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
R9780:Hacl1	UTSW	14	31,362,519 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTAGGCGGAACTCTGGACTGTG -3'
(R):5'- TGCTAGACAGAGCTGTGCTG -3'

Sequencing Primer
(F):5'- TGGGCTCGCCTTTCAGGAAG -3'
(R):5'- TGCTGGAAAAAGAAAAAGTATGCCTC -3'

Posted On

2022-08-09