Incidental Mutation 'R1148:Hexd'
ID |
165215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hexd
|
Ensembl Gene |
ENSMUSG00000039307 |
Gene Name |
hexosaminidase D |
Synonyms |
Hexdc |
MMRRC Submission |
039221-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1148 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
121095259-121113481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121112093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 438
(I438V)
|
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: I438V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000048479 Gene: ENSMUSG00000039307 AA Change: I438V
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: I365V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101723 Gene: ENSMUSG00000039307 AA Change: I365V
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 |
unknown
Transcript: ENSMUST00000151495
AA Change: I434V
|
SMART Domains |
Protein: ENSMUSP00000123073 Gene: ENSMUSG00000039307 AA Change: I434V
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: ENSMUST00000128913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133535
|
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 |
|
Meta Mutation Damage Score |
0.0882 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
AC149051.1 |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
Alg10b |
T |
C |
15: 90,112,068 (GRCm39) |
F304S |
possibly damaging |
Het |
Ank3 |
C |
T |
10: 69,718,369 (GRCm39) |
S540F |
probably damaging |
Het |
Arhgef16 |
T |
C |
4: 154,365,346 (GRCm39) |
N590D |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,486,396 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,187,598 (GRCm39) |
L1231Q |
possibly damaging |
Het |
Coq8a |
G |
A |
1: 179,996,968 (GRCm39) |
|
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,983,752 (GRCm39) |
|
probably benign |
Het |
Dars1 |
T |
C |
1: 128,294,646 (GRCm39) |
|
probably benign |
Het |
Disp2 |
G |
A |
2: 118,636,899 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
C |
15: 28,421,836 (GRCm39) |
L3896P |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,961,114 (GRCm39) |
|
probably null |
Het |
Esp4 |
A |
C |
17: 40,913,262 (GRCm39) |
N43T |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,908,070 (GRCm39) |
D2644G |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Homo |
Lonp2 |
A |
G |
8: 87,363,168 (GRCm39) |
E262G |
probably benign |
Het |
Ly6h |
G |
T |
15: 75,437,021 (GRCm39) |
S118R |
unknown |
Het |
Mapk12 |
T |
C |
15: 89,018,826 (GRCm39) |
Y203C |
probably damaging |
Het |
Mapk15 |
A |
G |
15: 75,870,004 (GRCm39) |
T375A |
probably benign |
Het |
Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
Or5g9 |
C |
A |
2: 85,552,620 (GRCm39) |
Y290* |
probably null |
Het |
Osbpl11 |
T |
C |
16: 33,047,582 (GRCm39) |
F515S |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,006,392 (GRCm39) |
V90A |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,603,439 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,270 (GRCm39) |
D41G |
probably damaging |
Het |
Rbm4b |
A |
G |
19: 4,807,527 (GRCm39) |
H81R |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
Sh3d19 |
A |
G |
3: 86,014,634 (GRCm39) |
D475G |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,089,226 (GRCm39) |
S1655P |
possibly damaging |
Het |
Slc25a12 |
G |
A |
2: 71,142,912 (GRCm39) |
|
probably benign |
Het |
Strc |
A |
G |
2: 121,202,558 (GRCm39) |
|
probably benign |
Het |
Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
Ttc22 |
G |
A |
4: 106,480,228 (GRCm39) |
V161M |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,078,926 (GRCm39) |
L1504P |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,928,967 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
T |
C |
5: 117,508,742 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCATAGCACTCAAAGGTCAGG -3'
(R):5'- GCAAATCCAGACAGTGTCAGTGGAG -3'
Sequencing Primer
(F):5'- ctctctgagcacttctgcc -3'
(R):5'- CAGTGTCAGTGGAGCCAGTG -3'
|
Posted On |
2014-03-28 |