Mutagenetix > Incidental Mutation

Incidental Mutation 'R6547:Fa2h'

521281

Institutional Source

Beutler Lab

Gene Symbol

Fa2h

Ensembl Gene

ENSMUSG00000033579

Gene Name

fatty acid 2-hydroxylase

Synonyms

G630055L08Rik, Faxdc1

MMRRC Submission

044672-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R6547 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112071770-112120453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112074652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 317 (Y317C)

Ref Sequence

ENSEMBL: ENSMUSP00000043597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038475]

AlphaFold

Q5MPP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038475
AA Change: Y317C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
AA Change: Y317C

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
Cyt-b5	11	86	2.85e-15	SMART
low complexity region	115	126	N/A	INTRINSIC
transmembrane domain	169	191	N/A	INTRINSIC
Pfam:FA_hydroxylase	219	361	4.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162463

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a null allele show demyelination, axonal loss, and cerebellar dysfunction. Homozygotes for a different null allele show late onset axon and myelin sheath degeneration, delayed fur emergence, altered sebum composition, sebocyte hyperproliferation, and cyclic alopecia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,490,251 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,224,757 (GRCm39)	V490E	probably benign	Het
Abca2	G	T	2: 25,323,350 (GRCm39)	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,957,000 (GRCm39)	T276A	probably benign	Het
Anxa7	A	G	14: 20,519,461 (GRCm39)	V119A	probably benign	Het
Arl9	A	G	5: 77,158,257 (GRCm39)		probably null	Het
Atm	T	C	9: 53,351,457 (GRCm39)	Y2964C	probably damaging	Het
Bbs9	T	C	9: 22,425,365 (GRCm39)	Y140H	probably benign	Het
Calcr	A	T	6: 3,717,177 (GRCm39)	D94E	probably damaging	Het
Celsr3	T	A	9: 108,706,327 (GRCm39)	Y937N	probably damaging	Het
Cemip2	A	T	19: 21,822,195 (GRCm39)	T1197S	probably benign	Het
Clca3a1	C	T	3: 144,442,708 (GRCm39)	A779T	probably damaging	Het
Clec9a	T	A	6: 129,393,339 (GRCm39)	V94D	probably benign	Het
Colec12	G	T	18: 9,840,351 (GRCm39)	L57F	probably damaging	Het
Flnc	A	G	6: 29,448,607 (GRCm39)	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Hcn2	G	T	10: 79,552,986 (GRCm39)	V162L	probably benign	Het
Hycc1	T	C	5: 24,170,098 (GRCm39)	N417S	probably benign	Het
Kbtbd11	T	A	8: 15,077,641 (GRCm39)	V80E	possibly damaging	Het
Lama4	A	G	10: 38,949,652 (GRCm39)	D915G	probably damaging	Het
Limch1	A	T	5: 67,186,117 (GRCm39)	E806V	probably damaging	Het
Mppe1	T	C	18: 67,362,059 (GRCm39)	I169V	probably benign	Het
Msc	A	C	1: 14,825,969 (GRCm39)	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,319,348 (GRCm39)		probably null	Het
Nr3c2	A	T	8: 77,635,438 (GRCm39)	I180F	possibly damaging	Het
Nrap	G	T	19: 56,339,998 (GRCm39)	H840N	probably benign	Het
Or8a1	T	A	9: 37,641,791 (GRCm39)	M163L	probably benign	Het
Pate13	T	A	9: 35,819,781 (GRCm39)	M15K	probably null	Het
Pdlim1	G	A	19: 40,211,564 (GRCm39)	T243I	probably damaging	Het
Pfkl	T	A	10: 77,831,188 (GRCm39)	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,661,099 (GRCm39)	R426L	probably damaging	Het
Ric1	A	G	19: 29,572,226 (GRCm39)	N674D	probably damaging	Het
Rp1	G	A	1: 4,240,528 (GRCm39)	T875I	unknown	Het
Rtn1	G	T	12: 72,355,535 (GRCm39)	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,546,241 (GRCm39)	I935V	probably benign	Het
Serpina1a	C	T	12: 103,822,180 (GRCm39)	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,000,621 (GRCm39)	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,737,981 (GRCm39)		probably null	Het
Slc2a5	T	A	4: 150,220,076 (GRCm39)	V164D	possibly damaging	Het
Slc4a1	T	A	11: 102,247,561 (GRCm39)	T441S	probably damaging	Het
Stk33	T	C	7: 108,920,042 (GRCm39)	I366V	possibly damaging	Het
Syt14	G	T	1: 192,584,177 (GRCm39)	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,643,531 (GRCm39)	V77D	probably benign	Het
Tefm	T	G	11: 80,031,210 (GRCm39)		probably null	Het
Tekt3	T	A	11: 62,961,304 (GRCm39)	S158T	possibly damaging	Het
Tspan11	T	A	6: 127,926,766 (GRCm39)	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,495,780 (GRCm39)	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612 (GRCm39)	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,880,647 (GRCm39)	Q3495K	probably damaging	Het
Zbtb10	G	A	3: 9,316,763 (GRCm39)	A192T	probably benign	Het
Zfp316	A	T	5: 143,239,952 (GRCm39)	V689D	probably damaging	Het
Zswim1	A	G	2: 164,666,716 (GRCm39)		probably benign	Het
Zswim5	T	C	4: 116,844,100 (GRCm39)	L1046P	probably damaging	Het

Other mutations in Fa2h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Fa2h	APN	8	112,075,936 (GRCm39)	missense	possibly damaging	0.55
IGL02983:Fa2h	APN	8	112,073,154 (GRCm39)	critical splice acceptor site	probably null
IGL03350:Fa2h	APN	8	112,075,928 (GRCm39)	missense	probably benign	0.05
sparse	UTSW	8	112,082,030 (GRCm39)	critical splice donor site	probably null
R0016:Fa2h	UTSW	8	112,120,146 (GRCm39)	missense	probably damaging	1.00
R0363:Fa2h	UTSW	8	112,075,921 (GRCm39)	missense	probably damaging	1.00
R0576:Fa2h	UTSW	8	112,082,779 (GRCm39)	missense	probably damaging	1.00
R2914:Fa2h	UTSW	8	112,120,281 (GRCm39)	missense	probably damaging	1.00
R3803:Fa2h	UTSW	8	112,082,030 (GRCm39)	critical splice donor site	probably null
R3924:Fa2h	UTSW	8	112,120,147 (GRCm39)	missense	probably damaging	1.00
R5203:Fa2h	UTSW	8	112,075,996 (GRCm39)	missense	probably benign	0.00
R5253:Fa2h	UTSW	8	112,075,869 (GRCm39)	missense	probably benign	0.00
R7595:Fa2h	UTSW	8	112,082,122 (GRCm39)	missense	probably benign	0.01
R8050:Fa2h	UTSW	8	112,074,817 (GRCm39)	critical splice acceptor site	probably null
R8530:Fa2h	UTSW	8	112,082,788 (GRCm39)	missense	probably benign	0.12
R9329:Fa2h	UTSW	8	112,082,115 (GRCm39)	missense	possibly damaging	0.49
R9366:Fa2h	UTSW	8	112,076,006 (GRCm39)	missense	probably benign	0.01
R9697:Fa2h	UTSW	8	112,074,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATAAGCCACTCCCTGAATGG -3'
(R):5'- ATAGCCATAAGTAGGCCCAGG -3'

Sequencing Primer
(F):5'- TCCCTGAATGGAGCCCG -3'
(R):5'- TTGGGCTGCCTCTGACAC -3'

Posted On

2018-06-06