Incidental Mutation 'R5449:Faah'
| ID |
429214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faah
|
| Ensembl Gene |
ENSMUSG00000034171 |
| Gene Name |
fatty acid amide hydrolase |
| Synonyms |
|
| MMRRC Submission |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115853865-115876034 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 115856692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049095]
|
| AlphaFold |
O08914 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049095
|
| SMART Domains |
Protein: ENSMUSP00000041543
Gene: ENSMUSG00000034171
| 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: ENSMUST00000133225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156126
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
probably damaging |
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 |
|
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 |
|
R6569:Faah
|
UTSW |
4 |
115,874,829 (GRCm39) |
missense |
probably benign |
|
|
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'- GCACAGTGCTCAGGTTAGAGAG -3'
(R):5'- AGCCACCTCAGTGTCCATTG -3'
Sequencing Primer
(F):5'- TCAGGTTAGAGAGCTCATCCTC -3'
(R):5'- TCCATTGGACATCAGGGGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation