Incidental Mutation 'R2852:Far1'
| ID |
252312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Far1
|
| Ensembl Gene |
ENSMUSG00000030759 |
| Gene Name |
fatty acyl CoA reductase 1 |
| Synonyms |
Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik |
| MMRRC Submission |
040445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.754)
|
| Stock # |
R2852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
113113041-113170718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113152944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 351
(Y351H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033018]
[ENSMUST00000067929]
[ENSMUST00000136158]
[ENSMUST00000164745]
|
| AlphaFold |
Q922J9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033018
AA Change: Y351H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: Y351H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
13 |
177 |
1e-8 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
285 |
3.2e-80 |
PFAM |
|
Pfam:Sterile
|
356 |
448 |
3.1e-34 |
PFAM |
|
transmembrane domain
|
466 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067929
|
| SMART Domains |
Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
13 |
177 |
1e-8 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
285 |
3.2e-80 |
PFAM |
|
Pfam:Sterile
|
356 |
448 |
5.4e-36 |
PFAM |
|
transmembrane domain
|
466 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136158
|
| SMART Domains |
Protein: ENSMUSP00000122643
Gene: ENSMUSG00000030759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
13 |
159 |
2.3e-7 |
PFAM |
|
Pfam:Epimerase
|
13 |
174 |
1.3e-9 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
207 |
7.6e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156875
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164745
AA Change: Y351H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: Y351H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
13 |
241 |
1.5e-10 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
285 |
9.9e-78 |
PFAM |
|
Pfam:Sterile
|
355 |
448 |
5.8e-26 |
PFAM |
|
transmembrane domain
|
466 |
483 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2119 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
| Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
| Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
| Other mutations in Far1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Far1
|
APN |
7 |
113,139,896 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02597:Far1
|
APN |
7 |
113,150,463 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02937:Far1
|
APN |
7 |
113,139,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0499:Far1
|
UTSW |
7 |
113,153,503 (GRCm39) |
intron |
probably benign |
|
|
R2045:Far1
|
UTSW |
7 |
113,138,478 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2140:Far1
|
UTSW |
7 |
113,165,667 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2853:Far1
|
UTSW |
7 |
113,152,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4423:Far1
|
UTSW |
7 |
113,139,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Far1
|
UTSW |
7 |
113,149,208 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4801:Far1
|
UTSW |
7 |
113,138,660 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4802:Far1
|
UTSW |
7 |
113,138,660 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4898:Far1
|
UTSW |
7 |
113,167,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Far1
|
UTSW |
7 |
113,167,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6151:Far1
|
UTSW |
7 |
113,160,603 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6165:Far1
|
UTSW |
7 |
113,153,425 (GRCm39) |
missense |
probably benign |
|
|
R6278:Far1
|
UTSW |
7 |
113,167,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7269:Far1
|
UTSW |
7 |
113,160,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7356:Far1
|
UTSW |
7 |
113,167,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7853:Far1
|
UTSW |
7 |
113,153,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Far1
|
UTSW |
7 |
113,146,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9519:Far1
|
UTSW |
7 |
113,150,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATGAACTCTGCCTCTGG -3'
(R):5'- TTCTCATTCACAAAAGGCCCTTAAG -3'
Sequencing Primer
(F):5'- ACTCTGCCTCTGGTAAAATATTTTGC -3'
(R):5'- GCCCTTAAGCCTTATCATAAGCACG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation