Incidental Mutation 'IGL02983:Fa2h'
| ID |
406649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fa2h
|
| Ensembl Gene |
ENSMUSG00000033579 |
| Gene Name |
fatty acid 2-hydroxylase |
| Synonyms |
G630055L08Rik, Faxdc1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112071770-112120453 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 112073154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038475]
[ENSMUST00000038475]
[ENSMUST00000038475]
[ENSMUST00000038475]
[ENSMUST00000038475]
|
| AlphaFold |
Q5MPP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038475
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
| 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 |
probably null
Transcript: ENSMUST00000038475
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
| 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 |
probably null
Transcript: ENSMUST00000038475
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
| 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 |
probably null
Transcript: ENSMUST00000038475
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
| 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 |
probably null
Transcript: ENSMUST00000038475
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
| 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 |
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation