Incidental Mutation 'R6921:Hexd'
| ID |
539655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hexd
|
| Ensembl Gene |
ENSMUSG00000039307 |
| Gene Name |
hexosaminidase D |
| Synonyms |
Hexdc |
| MMRRC Submission |
045006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6921 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121095259-121113481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121113107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 514
(D514G)
|
| 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 damaging
Transcript: ENSMUST00000038831
AA Change: D514G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: D514G
| 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: D441G
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: D441G
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: D510G
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,019 (GRCm39) |
H118Q |
probably damaging |
Het |
| Adgrl3 |
T |
G |
5: 81,796,560 (GRCm39) |
V623G |
probably damaging |
Het |
| B9d2 |
A |
G |
7: 25,385,442 (GRCm39) |
D84G |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,405,827 (GRCm39) |
L268H |
probably damaging |
Het |
| Copa |
A |
T |
1: 171,939,491 (GRCm39) |
N576I |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,712,798 (GRCm39) |
T88A |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,785,063 (GRCm39) |
I318T |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,180,654 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,932,310 (GRCm39) |
A3639S |
probably damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,031 (GRCm39) |
I89N |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,102,549 (GRCm39) |
H377L |
probably benign |
Het |
| Erfe |
T |
A |
1: 91,298,054 (GRCm39) |
I212N |
probably benign |
Het |
| Fam117b |
A |
G |
1: 59,992,094 (GRCm39) |
T248A |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,044,849 (GRCm39) |
N595K |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,646 (GRCm39) |
M122K |
probably damaging |
Het |
| Gpr15 |
C |
T |
16: 58,538,144 (GRCm39) |
R315H |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H6pd |
T |
C |
4: 150,066,508 (GRCm39) |
D626G |
probably damaging |
Het |
| Hoxd4 |
T |
C |
2: 74,558,836 (GRCm39) |
S220P |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,396,260 (GRCm39) |
H311R |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,901,634 (GRCm39) |
T70A |
probably damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,578 (GRCm39) |
C222R |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,866 (GRCm39) |
D190V |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,603 (GRCm39) |
T561A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,005,746 (GRCm39) |
T463I |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,203,233 (GRCm39) |
S890P |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,966,134 (GRCm39) |
L52P |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,969 (GRCm39) |
N2218S |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Nrip1 |
C |
T |
16: 76,089,476 (GRCm39) |
G694R |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,767 (GRCm39) |
C197S |
probably damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,196 (GRCm39) |
V173M |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,543 (GRCm39) |
I69V |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,433 (GRCm39) |
E475G |
possibly damaging |
Het |
| Pes1 |
T |
C |
11: 3,923,330 (GRCm39) |
F168L |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,615,155 (GRCm39) |
R780H |
possibly damaging |
Het |
| Pxdn |
C |
G |
12: 30,065,504 (GRCm39) |
P1275A |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,443 (GRCm39) |
E218G |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,725,135 (GRCm39) |
N437K |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,384,612 (GRCm39) |
S155P |
probably damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,091,056 (GRCm39) |
M690V |
probably benign |
Het |
| Tmem151a |
A |
T |
19: 5,133,119 (GRCm39) |
L29Q |
probably damaging |
Het |
| Tmprss2 |
A |
G |
16: 97,369,637 (GRCm39) |
I379T |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,240,323 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r73 |
A |
C |
7: 85,507,446 (GRCm39) |
V622G |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,928 (GRCm39) |
H880R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,678,024 (GRCm39) |
T3025A |
possibly damaging |
Het |
|
| Other mutations in Hexd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Hexd
|
APN |
11 |
121,111,986 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATAATACCAGCTCCAGGGAC -3'
(R):5'- ACAGTTGGAGAGCCTGTCTG -3'
Sequencing Primer
(F):5'- GACTGAGGATATGGGTGTAGC -3'
(R):5'- AACAGAAATCTTGGTGGTGTCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation