Incidental Mutation 'IGL02374:Fah'
| ID |
291028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fah
|
| Ensembl Gene |
ENSMUSG00000030630 |
| Gene Name |
fumarylacetoacetate hydrolase |
| Synonyms |
swst |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
84234367-84255150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84254909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 8
(E8G)
|
| 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: E8G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: E8G
| 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: ENSMUST00000134390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209112
|
| 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 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably damaging |
Het |
|
| Other mutations in Fah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Fah
|
APN |
7 |
84,238,837 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02975:Fah
|
APN |
7 |
84,250,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03403:Fah
|
APN |
7 |
84,242,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Fah
|
UTSW |
7 |
84,244,706 (GRCm39) |
missense |
probably benign |
|
|
R0689:Fah
|
UTSW |
7 |
84,242,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1173:Fah
|
UTSW |
7 |
84,250,344 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1413:Fah
|
UTSW |
7 |
84,242,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1995:Fah
|
UTSW |
7 |
84,251,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Fah
|
UTSW |
7 |
84,244,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Fah
|
UTSW |
7 |
84,234,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3620:Fah
|
UTSW |
7 |
84,238,159 (GRCm39) |
splice site |
probably null |
|
|
R4360:Fah
|
UTSW |
7 |
84,238,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Fah
|
UTSW |
7 |
84,248,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Fah
|
UTSW |
7 |
84,251,260 (GRCm39) |
intron |
probably benign |
|
|
R5151:Fah
|
UTSW |
7 |
84,250,259 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5443:Fah
|
UTSW |
7 |
84,241,604 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5470:Fah
|
UTSW |
7 |
84,242,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5976:Fah
|
UTSW |
7 |
84,243,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6086:Fah
|
UTSW |
7 |
84,238,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Fah
|
UTSW |
7 |
84,244,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Fah
|
UTSW |
7 |
84,244,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Fah
|
UTSW |
7 |
84,242,468 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7522:Fah
|
UTSW |
7 |
84,246,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Fah
|
UTSW |
7 |
84,244,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Fah
|
UTSW |
7 |
84,250,305 (GRCm39) |
missense |
probably benign |
|
|
R8823:Fah
|
UTSW |
7 |
84,254,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF002:Fah
|
UTSW |
7 |
84,238,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation