Incidental Mutation 'R0789:Glt8d2'
ID |
76402 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glt8d2
|
Ensembl Gene |
ENSMUSG00000020251 |
Gene Name |
glycosyltransferase 8 domain containing 2 |
Synonyms |
1110021D20Rik |
MMRRC Submission |
038969-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R0789 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82500519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 77
(N77S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020485
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020485]
[ENSMUST00000065815]
[ENSMUST00000125505]
[ENSMUST00000155529]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020485
AA Change: N77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020485 Gene: ENSMUSG00000020251 AA Change: N77S
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 damaging
Transcript: ENSMUST00000065815
AA Change: N77S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069188 Gene: ENSMUSG00000020251 AA Change: N77S
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: ENSMUST00000125505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140071
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155529
AA Change: N29S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.3351 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
Validation Efficiency |
98% (45/46) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly damaging |
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 |
|
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 |
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'- GCGTGGATTAAGTCTCTAGCACCTC -3'
(R):5'- AAGTTCCTTGTGCTCTGAGTCATCG -3'
Sequencing Primer
(F):5'- agaggaagaagaggaggagg -3'
(R):5'- GTCATCGATTTCAATCATTCCAGACG -3'
|
Posted On |
2013-10-16 |