Incidental Mutation 'IGL02663:Fahd1'
| ID |
302617 |
| 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: 0.337)
|
| Stock # |
IGL02663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25067870-25069276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25068478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 200
(G200R)
|
| 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: G200R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: G200R
| 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 |
|---|
| Bcl9 |
A |
C |
3: 97,112,648 (GRCm39) |
F1269C |
probably damaging |
Het |
| Cdc20b |
T |
A |
13: 113,192,665 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,404,660 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
G |
6: 53,657,946 (GRCm39) |
H236R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,005 (GRCm39) |
F93S |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,467,787 (GRCm39) |
L257H |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,760,312 (GRCm39) |
M692K |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,618,380 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
G |
T |
8: 36,057,060 (GRCm39) |
V512L |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nfia |
A |
G |
4: 97,929,856 (GRCm39) |
T339A |
probably benign |
Het |
| Npas3 |
T |
C |
12: 54,115,691 (GRCm39) |
L840P |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,821,641 (GRCm39) |
T2A |
probably benign |
Het |
| Or11g7 |
A |
G |
14: 50,691,309 (GRCm39) |
T267A |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,934,935 (GRCm39) |
I197K |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,290,743 (GRCm39) |
V302A |
probably benign |
Het |
| P2rx2 |
C |
T |
5: 110,488,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| P2rx2 |
G |
T |
5: 110,488,052 (GRCm39) |
|
probably null |
Het |
| Ppp1r8 |
G |
A |
4: 132,560,419 (GRCm39) |
T94I |
probably damaging |
Het |
| S100a11 |
A |
T |
3: 93,431,464 (GRCm39) |
E33D |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,522,717 (GRCm39) |
A92S |
probably damaging |
Het |
| Serpina3g |
C |
T |
12: 104,205,399 (GRCm39) |
T46I |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,396,148 (GRCm39) |
I36N |
probably damaging |
Het |
| Slc35e1 |
A |
G |
8: 73,242,053 (GRCm39) |
L223P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,011,678 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
A |
G |
7: 14,159,368 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,387,593 (GRCm39) |
Y322H |
probably benign |
Het |
| Tmem59 |
T |
C |
4: 107,054,738 (GRCm39) |
L181P |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,963 (GRCm39) |
|
probably null |
Het |
| Ube2h |
A |
G |
6: 30,241,412 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,117 (GRCm39) |
H106Q |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,802 (GRCm39) |
V681A |
possibly damaging |
Het |
|
| Other mutations in Fahd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02057:Fahd1
|
APN |
17 |
25,068,570 (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 |
2015-04-16 |
Incidental Mutation