Incidental Mutation 'IGL00791:Hexd'
| ID |
11252 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hexd
|
| Ensembl Gene |
ENSMUSG00000039307 |
| Gene Name |
hexosaminidase D |
| Synonyms |
Hexdc |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
121095259-121113481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121111986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 427
(S427G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038709]
[ENSMUST00000038831]
[ENSMUST00000106115]
[ENSMUST00000106117]
[ENSMUST00000137299]
[ENSMUST00000147490]
[ENSMUST00000169393]
|
| AlphaFold |
Q3U4H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038709
|
| SMART Domains |
Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4564
|
1 |
187 |
1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038831
AA Change: S427G
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: S427G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_20
|
30 |
223 |
2.9e-12 |
PFAM |
|
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106115
|
| SMART Domains |
Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4564
|
2 |
184 |
3e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106117
AA Change: S354G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: S354G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_20
|
31 |
229 |
1.7e-18 |
PFAM |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124761
|
| SMART Domains |
Protein: ENSMUSP00000116406
Gene: ENSMUSG00000039307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_20
|
20 |
194 |
6.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128913
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151495
AA Change: S423G
|
| SMART Domains |
Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: S423G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_20
|
27 |
220 |
3.1e-12 |
PFAM |
|
low complexity region
|
525 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137299
|
| SMART Domains |
Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4564
|
1 |
150 |
9.9e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147490
|
| SMART Domains |
Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4564
|
1 |
132 |
7.2e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169393
|
| SMART Domains |
Protein: ENSMUSP00000127260
Gene: ENSMUSG00000039294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4564
|
1 |
51 |
6.9e-20 |
PFAM |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
| Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
| Ceacam13 |
A |
G |
7: 17,747,278 (GRCm39) |
T244A |
possibly damaging |
Het |
| Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
| Cnot9 |
T |
C |
1: 74,561,533 (GRCm39) |
V126A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
| Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,284 (GRCm39) |
I53N |
possibly damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,335,867 (GRCm39) |
V195E |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,379,749 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
| Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
| Other mutations in Hexd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Hexd
|
APN |
11 |
121,107,819 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0360:Hexd
|
UTSW |
11 |
121,102,969 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0364:Hexd
|
UTSW |
11 |
121,102,969 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0376:Hexd
|
UTSW |
11 |
121,108,991 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Hexd
|
UTSW |
11 |
121,112,093 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1148:Hexd
|
UTSW |
11 |
121,112,093 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1493:Hexd
|
UTSW |
11 |
121,112,093 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1883:Hexd
|
UTSW |
11 |
121,098,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4021:Hexd
|
UTSW |
11 |
121,108,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4163:Hexd
|
UTSW |
11 |
121,111,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4939:Hexd
|
UTSW |
11 |
121,098,542 (GRCm39) |
missense |
probably benign |
|
|
R5308:Hexd
|
UTSW |
11 |
121,113,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Hexd
|
UTSW |
11 |
121,112,388 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6127:Hexd
|
UTSW |
11 |
121,107,825 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6154:Hexd
|
UTSW |
11 |
121,112,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6921:Hexd
|
UTSW |
11 |
121,113,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6928:Hexd
|
UTSW |
11 |
121,102,880 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6939:Hexd
|
UTSW |
11 |
121,113,164 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7125:Hexd
|
UTSW |
11 |
121,095,496 (GRCm39) |
unclassified |
probably benign |
|
|
R7522:Hexd
|
UTSW |
11 |
121,108,923 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8989:Hexd
|
UTSW |
11 |
121,109,136 (GRCm39) |
intron |
probably benign |
|
|
R9694:Hexd
|
UTSW |
11 |
121,107,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hexd
|
UTSW |
11 |
121,106,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation