Incidental Mutation 'IGL03197:Asphd1'
ID |
412868 |
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: 0.104)
|
Stock # |
IGL03197
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126545159-126548754 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126545298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 353
(D353G)
|
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 |
probably benign
Transcript: ENSMUST00000052937
AA Change: D102G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000049848 Gene: ENSMUSG00000046378 AA Change: D102G
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 |
probably benign
Transcript: ENSMUST00000106339
AA Change: D102G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101946 Gene: ENSMUSG00000046378 AA Change: D102G
Domain | Start | End | E-Value | Type |
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106340
AA Change: D353G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101947 Gene: ENSMUSG00000046378 AA Change: D353G
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: ENSMUST00000123117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141369
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
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 |
|
IGL03133:Asphd1
|
APN |
7 |
126,547,452 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |