Incidental Mutation 'IGL01131:Far2'
| ID |
51364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Far2
|
| Ensembl Gene |
ENSMUSG00000030303 |
| Gene Name |
fatty acyl CoA reductase 2 |
| Synonyms |
Mlstd1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
147948914-148084256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148052096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032443]
[ENSMUST00000111607]
|
| AlphaFold |
Q7TNT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032443
AA Change: V125A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
13 |
160 |
5.3e-8 |
PFAM |
|
Pfam:Epimerase
|
13 |
242 |
7.5e-9 |
PFAM |
|
Pfam:3Beta_HSD
|
14 |
167 |
3.4e-7 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
285 |
3.3e-76 |
PFAM |
|
Pfam:Sterile
|
356 |
448 |
4.3e-35 |
PFAM |
|
transmembrane domain
|
465 |
484 |
N/A |
INTRINSIC |
|
transmembrane domain
|
491 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111607
AA Change: V125A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
13 |
159 |
2.9e-8 |
PFAM |
|
Pfam:Epimerase
|
13 |
241 |
3.2e-10 |
PFAM |
|
Pfam:3Beta_HSD
|
14 |
167 |
4.2e-7 |
PFAM |
|
Pfam:NAD_binding_4
|
15 |
285 |
3.2e-73 |
PFAM |
|
Pfam:Sterile
|
355 |
448 |
1.2e-29 |
PFAM |
|
transmembrane domain
|
466 |
483 |
N/A |
INTRINSIC |
|
| 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 belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
| Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Far2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Far2
|
APN |
6 |
148,074,985 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01899:Far2
|
APN |
6 |
148,047,527 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02524:Far2
|
APN |
6 |
148,052,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Far2
|
APN |
6 |
148,058,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Galway
|
UTSW |
6 |
148,058,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4531001:Far2
|
UTSW |
6 |
148,076,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0319:Far2
|
UTSW |
6 |
148,058,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0654:Far2
|
UTSW |
6 |
148,076,639 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1321:Far2
|
UTSW |
6 |
148,075,034 (GRCm39) |
splice site |
probably benign |
|
|
R1610:Far2
|
UTSW |
6 |
148,058,956 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2039:Far2
|
UTSW |
6 |
148,067,075 (GRCm39) |
missense |
probably benign |
|
|
R2471:Far2
|
UTSW |
6 |
148,040,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Far2
|
UTSW |
6 |
148,052,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3875:Far2
|
UTSW |
6 |
148,052,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3974:Far2
|
UTSW |
6 |
148,052,252 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4490:Far2
|
UTSW |
6 |
148,074,907 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4491:Far2
|
UTSW |
6 |
148,074,907 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5034:Far2
|
UTSW |
6 |
148,074,939 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5421:Far2
|
UTSW |
6 |
148,047,690 (GRCm39) |
splice site |
probably null |
|
|
R5673:Far2
|
UTSW |
6 |
148,047,602 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6092:Far2
|
UTSW |
6 |
148,076,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6294:Far2
|
UTSW |
6 |
148,058,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6325:Far2
|
UTSW |
6 |
148,058,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6783:Far2
|
UTSW |
6 |
148,052,273 (GRCm39) |
splice site |
probably null |
|
|
R7380:Far2
|
UTSW |
6 |
148,082,493 (GRCm39) |
missense |
unknown |
|
|
R7403:Far2
|
UTSW |
6 |
148,060,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7484:Far2
|
UTSW |
6 |
148,075,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Far2
|
UTSW |
6 |
148,075,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8709:Far2
|
UTSW |
6 |
148,067,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Far2
|
UTSW |
6 |
148,047,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8774-TAIL:Far2
|
UTSW |
6 |
148,047,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9177:Far2
|
UTSW |
6 |
148,060,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Far2
|
UTSW |
6 |
148,060,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9504:Far2
|
UTSW |
6 |
148,059,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9583:Far2
|
UTSW |
6 |
148,059,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9760:Far2
|
UTSW |
6 |
148,060,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Far2
|
UTSW |
6 |
148,067,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Far2
|
UTSW |
6 |
148,040,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation