Incidental Mutation 'IGL02057:Fahd1'
ID |
185268 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fahd1
|
Ensembl Gene |
ENSMUSG00000045316 |
Gene Name |
fumarylacetoacetate hydrolase domain containing 1 |
Synonyms |
1110025H10Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
IGL02057
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25067870-25069276 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25068570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 169
(I169N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024974]
[ENSMUST00000049642]
[ENSMUST00000118788]
[ENSMUST00000130989]
[ENSMUST00000149716]
[ENSMUST00000154363]
[ENSMUST00000164251]
[ENSMUST00000169200]
|
AlphaFold |
Q8R0F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024974
|
SMART Domains |
Protein: ENSMUSP00000024974 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
Lactamase_B
|
11 |
173 |
2.61e-32 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049642
AA Change: I169N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055827 Gene: ENSMUSG00000045316 AA Change: I169N
Domain | Start | End | E-Value | Type |
Pfam:FAA_hydrolase
|
22 |
223 |
4e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118788
|
SMART Domains |
Protein: ENSMUSP00000113051 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
Lactamase_B
|
60 |
222 |
2.61e-32 |
SMART |
Pfam:HAGH_C
|
223 |
304 |
5.1e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130989
|
SMART Domains |
Protein: ENSMUSP00000120734 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
Lactamase_B
|
11 |
166 |
1.53e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149716
|
SMART Domains |
Protein: ENSMUSP00000114838 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
Lactamase_B
|
11 |
132 |
1.22e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154363
|
SMART Domains |
Protein: ENSMUSP00000114672 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
Pfam:Lactamase_B
|
56 |
106 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164251
|
SMART Domains |
Protein: ENSMUSP00000129904 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
Lactamase_B
|
11 |
173 |
2.61e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169200
|
SMART Domains |
Protein: ENSMUSP00000126514 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
Lactamase_B
|
23 |
150 |
2.66e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
Other mutations in Fahd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02663:Fahd1
|
APN |
17 |
25,068,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02677:Fahd1
|
APN |
17 |
25,068,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R0508:Fahd1
|
UTSW |
17 |
25,068,975 (GRCm39) |
missense |
probably benign |
0.22 |
R1915:Fahd1
|
UTSW |
17 |
25,068,622 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2022:Fahd1
|
UTSW |
17 |
25,068,814 (GRCm39) |
missense |
probably benign |
0.01 |
R2314:Fahd1
|
UTSW |
17 |
25,068,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R5130:Fahd1
|
UTSW |
17 |
25,068,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R6746:Fahd1
|
UTSW |
17 |
25,068,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R8220:Fahd1
|
UTSW |
17 |
25,068,864 (GRCm39) |
missense |
probably damaging |
0.98 |
R8546:Fahd1
|
UTSW |
17 |
25,069,057 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Posted On |
2014-05-07 |