Incidental Mutation 'R6586:Fah'
| ID |
524405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fah
|
| Ensembl Gene |
ENSMUSG00000030630 |
| Gene Name |
fumarylacetoacetate hydrolase |
| Synonyms |
|
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84585159-84606722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84593260 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 280
(D280V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032865]
[ENSMUST00000128460]
|
| AlphaFold |
P35505 |
| PDB Structure |
CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE COMPLEXED WITH 4-(HYDROXYMETHYLPHOSPHINOYL)-3-OXO-BUTANOIC ACID [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE COMPLEXED WITH FUMARATE AND ACETOACETATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE FUMARYLACETOACETATE HYDROLASE REFINED AT 1.55 ANGSTROM RESOLUTION [X-RAY DIFFRACTION]
Mouse fumarylacetoacetate hydrolase complexes with a transition-state mimic of the complete substrate [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032865
AA Change: D280V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: D280V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAA_hydrolase_N
|
15 |
118 |
1.7e-36 |
PFAM |
|
Pfam:FAA_hydrolase
|
123 |
413 |
1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128460
|
| SMART Domains |
Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAA_hydrolase_N
|
1 |
48 |
7.2e-10 |
PFAM |
|
Pfam:FAA_hydrolase
|
53 |
140 |
7.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209112
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression. Mice homozygous for a mutation of this gene exhibit inappropriate bouts of activity during the light period of the circadian cycle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,455,328 (GRCm38) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,417,960 (GRCm38) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,349,538 (GRCm38) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,813,264 (GRCm38) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,261,278 (GRCm38) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm38) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,082,218 (GRCm38) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,505,646 (GRCm38) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,662,411 (GRCm38) |
C343* |
probably null |
Het |
| Fiz1 |
C |
T |
7: 5,008,401 (GRCm38) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,292,983 (GRCm38) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 85,120,106 (GRCm38) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,106,073 (GRCm38) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,404,948 (GRCm38) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,369,863 (GRCm38) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,405,905 (GRCm38) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,611,976 (GRCm38) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,809,531 (GRCm38) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,881,179 (GRCm38) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,175,087 (GRCm38) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 67,963,545 (GRCm38) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,430,544 (GRCm38) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,491,033 (GRCm38) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 180,280,959 (GRCm38) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 166,100,885 (GRCm38) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,406,018 (GRCm38) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,320,894 (GRCm38) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,045,202 (GRCm38) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 99,080,267 (GRCm38) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,000,596 (GRCm38) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,730,410 (GRCm38) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,031,125 (GRCm38) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,544,447 (GRCm38) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,259,009 (GRCm38) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,845,788 (GRCm38) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 132,205,600 (GRCm38) |
M83K |
probably benign |
Het |
|
| Other mutations in Fah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Fah
|
APN |
7 |
84,589,629 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02374:Fah
|
APN |
7 |
84,605,701 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02975:Fah
|
APN |
7 |
84,601,079 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03403:Fah
|
APN |
7 |
84,593,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0245:Fah
|
UTSW |
7 |
84,595,498 (GRCm38) |
missense |
probably benign |
|
|
R0689:Fah
|
UTSW |
7 |
84,593,184 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1173:Fah
|
UTSW |
7 |
84,601,136 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R1413:Fah
|
UTSW |
7 |
84,593,212 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1995:Fah
|
UTSW |
7 |
84,602,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2150:Fah
|
UTSW |
7 |
84,594,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3612:Fah
|
UTSW |
7 |
84,585,290 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3620:Fah
|
UTSW |
7 |
84,588,951 (GRCm38) |
splice site |
probably null |
|
|
R4360:Fah
|
UTSW |
7 |
84,589,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4386:Fah
|
UTSW |
7 |
84,599,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4923:Fah
|
UTSW |
7 |
84,602,052 (GRCm38) |
intron |
probably benign |
|
|
R5151:Fah
|
UTSW |
7 |
84,601,051 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5443:Fah
|
UTSW |
7 |
84,592,396 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5470:Fah
|
UTSW |
7 |
84,593,185 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5976:Fah
|
UTSW |
7 |
84,594,741 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6086:Fah
|
UTSW |
7 |
84,588,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6272:Fah
|
UTSW |
7 |
84,595,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6502:Fah
|
UTSW |
7 |
84,594,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7522:Fah
|
UTSW |
7 |
84,597,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7832:Fah
|
UTSW |
7 |
84,595,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8535:Fah
|
UTSW |
7 |
84,601,097 (GRCm38) |
missense |
probably benign |
|
|
R8823:Fah
|
UTSW |
7 |
84,605,717 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
RF002:Fah
|
UTSW |
7 |
84,589,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTCCACCCAGCAATGCTC -3'
(R):5'- CTGAAGCATTGTTACTTCCTGTG -3'
Sequencing Primer
(F):5'- AATGCTCAGGATCCGCTG -3'
(R):5'- CATCAGCTTATTTTCTCAAGTGTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation