Incidental Mutation 'R4386:Fah'
| ID |
326225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fah
|
| Ensembl Gene |
ENSMUSG00000030630 |
| Gene Name |
fumarylacetoacetate hydrolase |
| Synonyms |
swst |
| MMRRC Submission |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84234367-84255150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84248344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 125
(T125S)
|
| 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 damaging
Transcript: ENSMUST00000032865
AA Change: T125S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: T125S
| 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 damaging
Transcript: ENSMUST00000128460
AA Change: T55S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: T55S
| 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
|
| Meta Mutation Damage Score |
0.8530 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
probably benign |
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 |
|
IGL02374:Fah
|
APN |
7 |
84,254,909 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTTCTAGAGGACGCAAC -3'
(R):5'- AGGGTACTGGCAGCTACTTC -3'
Sequencing Primer
(F):5'- GAGGACGCAACATCATCAGTTTTG -3'
(R):5'- ACTGGCAGCTACTTCATATTTAAATC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation