Incidental Mutation 'IGL03133:Asphd1'
| ID |
410407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asphd1
|
| Ensembl Gene |
ENSMUSG00000046378 |
| Gene Name |
aspartate beta-hydroxylase domain containing 1 |
| Synonyms |
A830007L07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126545159-126548754 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126547452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 284
(C284R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032924]
[ENSMUST00000052937]
[ENSMUST00000106332]
[ENSMUST00000106333]
[ENSMUST00000106335]
[ENSMUST00000106339]
[ENSMUST00000106340]
[ENSMUST00000146017]
|
| AlphaFold |
Q2TA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032924
|
| SMART Domains |
Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
BTB
|
41 |
141 |
6.48e-15 |
SMART |
|
low complexity region
|
276 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052937
AA Change: C33R
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378
AA Change: C33R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106332
|
| SMART Domains |
Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
CUB
|
113 |
226 |
8.25e-4 |
SMART |
|
CCP
|
230 |
285 |
3.75e-15 |
SMART |
|
CUB
|
289 |
399 |
1.3e-3 |
SMART |
|
CCP
|
404 |
463 |
8.9e-8 |
SMART |
|
CUB
|
467 |
578 |
3.45e-14 |
SMART |
|
CCP
|
584 |
639 |
1.18e-12 |
SMART |
|
CCP
|
645 |
704 |
1.31e-14 |
SMART |
|
CCP
|
711 |
768 |
2.76e-13 |
SMART |
|
transmembrane domain
|
798 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106333
|
| SMART Domains |
Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106335
|
| SMART Domains |
Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106339
AA Change: C33R
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378
AA Change: C33R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106340
AA Change: C284R
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: C284R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
Pfam:Asp_Arg_Hydrox
|
191 |
342 |
1.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146017
|
| SMART Domains |
Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
Het |
|
| Other mutations in Asphd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02388:Asphd1
|
APN |
7 |
126,545,884 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02675:Asphd1
|
APN |
7 |
126,546,006 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03197:Asphd1
|
APN |
7 |
126,545,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB012:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1572:Asphd1
|
UTSW |
7 |
126,548,271 (GRCm39) |
missense |
probably benign |
|
|
R4871:Asphd1
|
UTSW |
7 |
126,547,747 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4952:Asphd1
|
UTSW |
7 |
126,547,857 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5261:Asphd1
|
UTSW |
7 |
126,545,287 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5504:Asphd1
|
UTSW |
7 |
126,545,350 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6254:Asphd1
|
UTSW |
7 |
126,548,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7068:Asphd1
|
UTSW |
7 |
126,547,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Asphd1
|
UTSW |
7 |
126,545,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Asphd1
|
UTSW |
7 |
126,548,001 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7925:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Asphd1
|
UTSW |
7 |
126,547,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Asphd1
|
UTSW |
7 |
126,547,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9622:Asphd1
|
UTSW |
7 |
126,547,974 (GRCm39) |
missense |
|
|
|
Z1176:Asphd1
|
UTSW |
7 |
126,547,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation