Incidental Mutation 'R8535:Fah'
| ID |
659203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fah
|
| Ensembl Gene |
ENSMUSG00000030630 |
| Gene Name |
fumarylacetoacetate hydrolase |
| Synonyms |
|
| MMRRC Submission |
068504-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84585159-84606722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84601097 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 14
(S14T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032865]
[ENSMUST00000128460]
|
| AlphaFold |
P35505 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032865
AA Change: S84T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: S84T
| 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
AA Change: S14T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: S14T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (34/34) |
| 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 |
|---|
| Acsl6 |
A |
T |
11: 54,338,502 (GRCm38) |
I362F |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,948,631 (GRCm38) |
S1154T |
probably benign |
Het |
| Bsn |
G |
A |
9: 108,111,452 (GRCm38) |
A2367V |
probably benign |
Het |
| Cd163l1 |
G |
A |
7: 140,224,721 (GRCm38) |
V546M |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,211 (GRCm38) |
S2434T |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 134,081,203 (GRCm38) |
S1372P |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 67,793,976 (GRCm38) |
Y1002H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,186,001 (GRCm38) |
S1163P |
probably damaging |
Het |
| Dusp27 |
T |
C |
1: 166,101,161 (GRCm38) |
D294G |
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,454,546 (GRCm38) |
I119M |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,274 (GRCm38) |
L37F |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 149,015,968 (GRCm38) |
V121A |
unknown |
Het |
| Klhl25 |
G |
A |
7: 75,866,095 (GRCm38) |
V250I |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,819,515 (GRCm38) |
S200R |
possibly damaging |
Het |
| Map1b |
T |
A |
13: 99,435,154 (GRCm38) |
D353V |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,278,915 (GRCm38) |
R20Q |
probably damaging |
Het |
| Olfr1262 |
G |
A |
2: 90,003,167 (GRCm38) |
V254M |
probably benign |
Het |
| Olfr764-ps1 |
T |
C |
10: 129,034,023 (GRCm38) |
Y273C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,420,205 (GRCm38) |
R734W |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 30,079,924 (GRCm38) |
|
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,680,026 (GRCm38) |
T1058S |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,949,088 (GRCm38) |
|
probably null |
Het |
| Sardh |
T |
A |
2: 27,239,645 (GRCm38) |
I263F |
probably damaging |
Het |
| Sh3bp5 |
A |
G |
14: 31,417,418 (GRCm38) |
V66A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,822,138 (GRCm38) |
S583T |
probably damaging |
Het |
| Tbcb |
G |
A |
7: 30,226,996 (GRCm38) |
P132L |
probably benign |
Het |
| Tcirg1 |
A |
G |
19: 3,896,324 (GRCm38) |
I791T |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,181,826 (GRCm38) |
V320D |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 60,970,968 (GRCm38) |
E368G |
probably benign |
Het |
| Trdv2-1 |
T |
A |
14: 53,946,515 (GRCm38) |
I67N |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,540,371 (GRCm38) |
T1849I |
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,271,829 (GRCm38) |
T655I |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,565,612 (GRCm38) |
Y517H |
possibly damaging |
Het |
| Wdr27 |
G |
A |
17: 14,903,537 (GRCm38) |
T558I |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 20,159,176 (GRCm38) |
R137W |
probably damaging |
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 |
|
R6586:Fah
|
UTSW |
7 |
84,593,260 (GRCm38) |
missense |
probably benign |
0.04 |
|
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 |
|
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'- GGAAGTTGGCCTGACTGTAC -3'
(R):5'- AGGAAGATGACAGCTGTCTCC -3'
Sequencing Primer
(F):5'- TGACTGTACCAGGACAGGC -3'
(R):5'- GTCTCCAGCTCTATGCCGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation