Incidental Mutation 'R2039:Far2'
| ID |
225411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Far2
|
| Ensembl Gene |
ENSMUSG00000030303 |
| Gene Name |
fatty acyl CoA reductase 2 |
| Synonyms |
Mlstd1 |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
147948914-148084256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148067075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 320
(L320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032443]
[ENSMUST00000111607]
|
| AlphaFold |
Q7TNT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032443
AA Change: L320S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: L320S
| 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 |
probably benign
Transcript: ENSMUST00000111607
AA Change: L320S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: L320S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Far2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Far2
|
APN |
6 |
148,052,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACATTGCTTAACTGTGCAG -3'
(R):5'- AGGATTAAGGACTTTGGCTTCC -3'
Sequencing Primer
(F):5'- CATTGCTTAACTGTGCAGGTGTTTAC -3'
(R):5'- GATTAAGGACTTTGGCTTCCATGCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation