Incidental Mutation 'R6569:Faah'
| ID |
526184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faah
|
| Ensembl Gene |
ENSMUSG00000034171 |
| Gene Name |
fatty acid amide hydrolase |
| Synonyms |
|
| MMRRC Submission |
044693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R6569 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115853865-115876034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115874829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 9
(A9E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049095]
|
| AlphaFold |
O08914 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049095
AA Change: A9E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041543
Gene: ENSMUSG00000034171
AA Change: A9E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
|
Pfam:Amidase
|
95 |
562 |
1.4e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154249
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| 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 is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show high brain anandamide (AEA) levels, reduced pain sensation, altered behavioral responses to AEA, and sex-specific changes in ethanol intake and sensitivity. Homozygotes for the C385A variant show enhanced cued fear extinction and reduced anxiety-like behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,618,321 (GRCm39) |
V2789D |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,560 (GRCm39) |
T567A |
probably damaging |
Het |
| Col7a1 |
T |
G |
9: 108,807,178 (GRCm39) |
|
probably null |
Het |
| Crb2 |
A |
T |
2: 37,682,163 (GRCm39) |
Q173L |
probably damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,913,486 (GRCm39) |
Y377C |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,198,280 (GRCm39) |
M75T |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,991,163 (GRCm39) |
D627G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,296 (GRCm39) |
V380F |
possibly damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,394 (GRCm39) |
Y239C |
probably damaging |
Het |
| Mkx |
C |
A |
18: 6,992,820 (GRCm39) |
E155* |
probably null |
Het |
| Mmp11 |
G |
A |
10: 75,763,216 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,952,807 (GRCm39) |
K101E |
possibly damaging |
Het |
| Mrpl23 |
C |
A |
7: 142,088,776 (GRCm39) |
R44S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,359 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,849 (GRCm39) |
S91P |
possibly damaging |
Het |
| Pcdhgc5 |
C |
T |
18: 37,953,248 (GRCm39) |
P174L |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,501,673 (GRCm39) |
D619V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,953,433 (GRCm39) |
A395T |
possibly damaging |
Het |
| Polr1f |
T |
A |
12: 33,487,882 (GRCm39) |
C266S |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,209,416 (GRCm39) |
D410G |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,795,896 (GRCm39) |
L675P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,750,074 (GRCm39) |
T208I |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,571,065 (GRCm39) |
I443T |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,425 (GRCm39) |
L48P |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,828,941 (GRCm39) |
V111A |
probably benign |
Het |
|
| Other mutations in Faah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Faah
|
APN |
4 |
115,865,480 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03355:Faah
|
APN |
4 |
115,859,725 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0013:Faah
|
UTSW |
4 |
115,861,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Faah
|
UTSW |
4 |
115,862,889 (GRCm39) |
nonsense |
probably null |
|
|
R0727:Faah
|
UTSW |
4 |
115,862,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Faah
|
UTSW |
4 |
115,858,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Faah
|
UTSW |
4 |
115,858,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Faah
|
UTSW |
4 |
115,856,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Faah
|
UTSW |
4 |
115,856,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Faah
|
UTSW |
4 |
115,865,432 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2062:Faah
|
UTSW |
4 |
115,855,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Faah
|
UTSW |
4 |
115,856,823 (GRCm39) |
intron |
probably benign |
|
|
R5162:Faah
|
UTSW |
4 |
115,857,938 (GRCm39) |
intron |
probably benign |
|
|
R5425:Faah
|
UTSW |
4 |
115,857,993 (GRCm39) |
missense |
probably null |
0.47 |
|
R5449:Faah
|
UTSW |
4 |
115,856,692 (GRCm39) |
splice site |
probably null |
|
|
R6236:Faah
|
UTSW |
4 |
115,856,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6370:Faah
|
UTSW |
4 |
115,860,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Faah
|
UTSW |
4 |
115,862,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Faah
|
UTSW |
4 |
115,874,772 (GRCm39) |
missense |
probably benign |
|
|
X0024:Faah
|
UTSW |
4 |
115,860,176 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTGAAGTCGCAGCCTTG -3'
(R):5'- TGTTCCGCCTGCCTTAAAAC -3'
Sequencing Primer
(F):5'- TTGCCCACGCCATGCTC -3'
(R):5'- CTGCCTTAAAACGCTGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation