Incidental Mutation 'R5485:Glt8d2'
| ID |
432525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glt8d2
|
| Ensembl Gene |
ENSMUSG00000020251 |
| Gene Name |
glycosyltransferase 8 domain containing 2 |
| Synonyms |
1110021D20Rik |
| MMRRC Submission |
043046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5485 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82487282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 319
(R319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020485]
[ENSMUST00000065815]
[ENSMUST00000092266]
[ENSMUST00000125505]
[ENSMUST00000151390]
[ENSMUST00000177353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020485
AA Change: R319S
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: R319S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
54 |
326 |
3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065815
|
| SMART Domains |
Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
25 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
54 |
312 |
2.8e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092266
|
| SMART Domains |
Protein: ENSMUSP00000089917
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
3 |
21 |
1.82e-5 |
PROSPERO |
|
internal_repeat_1
|
18 |
36 |
1.82e-5 |
PROSPERO |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
84 |
N/A |
INTRINSIC |
|
UDG
|
112 |
278 |
2.03e0 |
SMART |
|
UreE_C
|
112 |
278 |
2.03e0 |
SMART |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142658
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176326
|
| SMART Domains |
Protein: ENSMUSP00000135009
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UreE_C
|
2 |
78 |
9e-50 |
BLAST |
|
SCOP:d1muga_
|
2 |
83 |
2e-10 |
SMART |
|
PDB:2D07|A
|
2 |
123 |
9e-85 |
PDB |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151390
|
| SMART Domains |
Protein: ENSMUSP00000121000
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
23 |
45 |
8.83e-7 |
PROSPERO |
|
internal_repeat_1
|
38 |
60 |
8.83e-7 |
PROSPERO |
|
low complexity region
|
63 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
108 |
N/A |
INTRINSIC |
|
UDG
|
136 |
302 |
1.6e-4 |
SMART |
|
UreE_C
|
136 |
302 |
1.6e-4 |
SMART |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177353
|
| SMART Domains |
Protein: ENSMUSP00000135621
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
UDG
|
28 |
185 |
9.44e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176195
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
| Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
| Appl1 |
C |
A |
14: 26,684,823 (GRCm39) |
L75F |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
| Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
| Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
| Dgkb |
T |
C |
12: 38,177,363 (GRCm39) |
V230A |
probably damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
| Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,367,767 (GRCm39) |
S290T |
possibly damaging |
Het |
| Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
| Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
| Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
| Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
| Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
| Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
| Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
| Sytl3 |
G |
A |
17: 6,982,879 (GRCm39) |
V112I |
probably benign |
Het |
| Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
| Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
| Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
| Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glt8d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00686:Glt8d2
|
APN |
10 |
82,487,347 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00848:Glt8d2
|
APN |
10 |
82,497,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01479:Glt8d2
|
APN |
10 |
82,496,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Glt8d2
|
APN |
10 |
82,498,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
vitus
|
UTSW |
10 |
82,500,547 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0139:Glt8d2
|
UTSW |
10 |
82,496,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Glt8d2
|
UTSW |
10 |
82,487,361 (GRCm39) |
splice site |
probably null |
|
|
R0464:Glt8d2
|
UTSW |
10 |
82,490,564 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0483:Glt8d2
|
UTSW |
10 |
82,497,987 (GRCm39) |
unclassified |
probably benign |
|
|
R0789:Glt8d2
|
UTSW |
10 |
82,500,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Glt8d2
|
UTSW |
10 |
82,495,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1930:Glt8d2
|
UTSW |
10 |
82,500,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3715:Glt8d2
|
UTSW |
10 |
82,488,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4493:Glt8d2
|
UTSW |
10 |
82,500,547 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4707:Glt8d2
|
UTSW |
10 |
82,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Glt8d2
|
UTSW |
10 |
82,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Glt8d2
|
UTSW |
10 |
82,487,874 (GRCm39) |
unclassified |
probably benign |
|
|
R5420:Glt8d2
|
UTSW |
10 |
82,488,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5859:Glt8d2
|
UTSW |
10 |
82,507,915 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6416:Glt8d2
|
UTSW |
10 |
82,488,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Glt8d2
|
UTSW |
10 |
82,488,403 (GRCm39) |
missense |
unknown |
|
|
R7563:Glt8d2
|
UTSW |
10 |
82,496,659 (GRCm39) |
splice site |
probably null |
|
|
R7699:Glt8d2
|
UTSW |
10 |
82,498,122 (GRCm39) |
splice site |
probably null |
|
|
R8322:Glt8d2
|
UTSW |
10 |
82,498,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Glt8d2
|
UTSW |
10 |
82,490,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9716:Glt8d2
|
UTSW |
10 |
82,496,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGTTCAACTTGTACACAG -3'
(R):5'- TGACTCCTGCTAACTGGACAC -3'
Sequencing Primer
(F):5'- ACACAGTAGTATTTGTCTCTTACACC -3'
(R):5'- GCTAACTGGACACTTTTACCATAGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation