Incidental Mutation 'R3715:Glt8d2'
ID |
259862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glt8d2
|
Ensembl Gene |
ENSMUSG00000020251 |
Gene Name |
glycosyltransferase 8 domain containing 2 |
Synonyms |
1110021D20Rik |
MMRRC Submission |
040708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R3715 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 82488571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 300
(A300S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020485]
[ENSMUST00000065815]
[ENSMUST00000092266]
[ENSMUST00000125505]
[ENSMUST00000151390]
[ENSMUST00000177353]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020485
|
SMART Domains |
Protein: ENSMUSP00000020485 Gene: ENSMUSG00000020251
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
AA Change: A300S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000069188 Gene: ENSMUSG00000020251 AA Change: A300S
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: ENSMUST00000128142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142658
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150269
|
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: ENSMUST00000176195
|
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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (52/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Aaas |
T |
C |
15: 102,248,771 (GRCm39) |
I236V |
probably benign |
Het |
Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,465,405 (GRCm39) |
L833P |
probably benign |
Het |
Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
Stox2 |
T |
A |
8: 47,866,187 (GRCm39) |
I52F |
possibly damaging |
Het |
Syncrip |
A |
T |
9: 88,361,738 (GRCm39) |
|
probably benign |
Het |
Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
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 |
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 |
R5485:Glt8d2
|
UTSW |
10 |
82,487,282 (GRCm39) |
missense |
possibly damaging |
0.79 |
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'- GCTGAGCATCACTCTGTAAGC -3'
(R):5'- CCATGCTGATTGTGTTTCACG -3'
Sequencing Primer
(F):5'- ATTGCATGAGAGTGTCAGATCCCC -3'
(R):5'- ATTGTGTTTCACGGGAAGTATTCCAC -3'
|
Posted On |
2015-01-23 |