Incidental Mutation 'R4163:Hexd'
| ID |
321625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hexd
|
| Ensembl Gene |
ENSMUSG00000039307 |
| Gene Name |
hexosaminidase D |
| Synonyms |
Hexdc |
| MMRRC Submission |
041006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121095259-121113481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121111975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 423
(A423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038709]
[ENSMUST00000038831]
[ENSMUST00000106115]
[ENSMUST00000106117]
[ENSMUST00000147490]
[ENSMUST00000137299]
[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: A423E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: A423E
| 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: A350E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: A350E
| 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: A419E
|
| SMART Domains |
Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: A419E
| 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: 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: 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: 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,948,531 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
C |
T |
11: 109,941,808 (GRCm39) |
D1154N |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,477 (GRCm39) |
F289L |
probably benign |
Het |
| Alkbh2 |
A |
G |
5: 114,265,613 (GRCm39) |
L63S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,360,068 (GRCm39) |
N19K |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,933,975 (GRCm39) |
Y2544N |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,118,503 (GRCm39) |
Y643C |
probably benign |
Het |
| Bpifa3 |
A |
G |
2: 153,977,516 (GRCm39) |
N118S |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,910,904 (GRCm39) |
M87L |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,568,006 (GRCm39) |
P298L |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,912 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,020,137 (GRCm39) |
L492R |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,748,959 (GRCm39) |
S128G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,346,051 (GRCm39) |
R198G |
possibly damaging |
Het |
| Elovl7 |
T |
A |
13: 108,403,904 (GRCm39) |
M82K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,791,016 (GRCm39) |
D259G |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,467,868 (GRCm39) |
P294L |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm128 |
C |
A |
3: 95,147,802 (GRCm39) |
R164L |
probably benign |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Itgax |
G |
T |
7: 127,743,872 (GRCm39) |
V878F |
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,706,864 (GRCm39) |
D51E |
probably damaging |
Het |
| Kcna4 |
G |
C |
2: 107,126,151 (GRCm39) |
W295S |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Mis12 |
A |
G |
11: 70,916,482 (GRCm39) |
T172A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Myo18a |
G |
T |
11: 77,720,534 (GRCm39) |
R1103L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Ntrk2 |
T |
C |
13: 59,008,054 (GRCm39) |
V272A |
probably damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,389,486 (GRCm39) |
C241S |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,855,039 (GRCm39) |
I102N |
probably benign |
Het |
| Or7e165 |
A |
T |
9: 19,695,086 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,705,615 (GRCm39) |
D562N |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,436 (GRCm39) |
F4L |
probably benign |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,141,346 (GRCm39) |
R598C |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,135 (GRCm39) |
D759G |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,096,545 (GRCm39) |
S584P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,433,797 (GRCm39) |
D1514G |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,967,010 (GRCm39) |
R565S |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,615,139 (GRCm39) |
L236S |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,103,596 (GRCm39) |
I156F |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,607,080 (GRCm39) |
V203A |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,497,915 (GRCm39) |
I90L |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,026,999 (GRCm39) |
Y788N |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,485,822 (GRCm39) |
T166A |
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 |
|
|
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'- TACAACCTTTCACATGTTCACTGG -3'
(R):5'- TGGGAGCCACTTACCTGTTC -3'
Sequencing Primer
(F):5'- TGTTCACTGGAAAGCAGCC -3'
(R):5'- CACACTGAGAACAGTGGT -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation