Incidental Mutation 'R2914:Fa2h'
| ID |
254807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fa2h
|
| Ensembl Gene |
ENSMUSG00000033579 |
| Gene Name |
fatty acid 2-hydroxylase |
| Synonyms |
G630055L08Rik, Faxdc1 |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112071770-112120453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112120281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038475]
|
| AlphaFold |
Q5MPP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038475
AA Change: D35G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
AA Change: D35G
| 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 |
0.9469 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCTAAAGTGGCGGACTG -3'
(R):5'- AGTCACCTTCAATGCGCTGG -3'
Sequencing Primer
(F):5'- GGTGTGAGGCAGGGAGC -3'
(R):5'- TCCCGAGATGTTAGAGGCG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation