Incidental Mutation 'R3924:Fa2h'
ID |
307091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fa2h
|
Ensembl Gene |
ENSMUSG00000033579 |
Gene Name |
fatty acid 2-hydroxylase |
Synonyms |
G630055L08Rik, Faxdc1 |
MMRRC Submission |
040915-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.331)
|
Stock # |
R3924 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112071770-112120453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112120147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 80
(Y80H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038475]
|
AlphaFold |
Q5MPP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038475
AA Change: Y80H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043597 Gene: ENSMUSG00000033579 AA Change: Y80H
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: ENSMUST00000162463
|
Meta Mutation Damage Score |
0.7371 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (39/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
Het |
Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
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 |
|
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 |
R6547:Fa2h
|
UTSW |
8 |
112,074,652 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCGGTTACCTGGAGAGAAACTG -3'
(R):5'- CAGTCACCTTCAATGCGCTG -3'
Sequencing Primer
(F):5'- TTACCTGGAGAGAAACTGGGAAAAC -3'
(R):5'- TCCCGAGATGTTAGAGGCG -3'
|
Posted On |
2015-04-17 |