Incidental Mutation 'R6809:Gtdc1'
ID |
533687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtdc1
|
Ensembl Gene |
ENSMUSG00000036890 |
Gene Name |
glycosyltransferase-like domain containing 1 |
Synonyms |
E330008O22Rik |
MMRRC Submission |
044922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6809 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44715396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 49
(F49S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100127]
[ENSMUST00000112810]
[ENSMUST00000130991]
[ENSMUST00000146694]
[ENSMUST00000148279]
[ENSMUST00000154744]
|
AlphaFold |
Q8BW56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100127
AA Change: F49S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097703 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
64 |
1.1e-18 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112810
AA Change: F49S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108429 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
2 |
167 |
1.3e-74 |
PFAM |
Pfam:Glycos_transf_1
|
266 |
444 |
1.3e-10 |
PFAM |
Pfam:Glyco_trans_1_4
|
269 |
407 |
1.4e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130991
AA Change: F49S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116839 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
87 |
1.7e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146694
AA Change: F49S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119639 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
116 |
1e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148279
AA Change: F49S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120593 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
167 |
8.7e-68 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154744
AA Change: F49S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119239 Gene: ENSMUSG00000036890 AA Change: F49S
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
115 |
2.3e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.8986 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (51/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,229,619 (GRCm39) |
|
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,673,576 (GRCm39) |
D199G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,053,882 (GRCm39) |
Q96L |
probably damaging |
Het |
Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
Pard3b |
G |
A |
1: 62,200,340 (GRCm39) |
R293H |
probably damaging |
Het |
Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly damaging |
Het |
|
Other mutations in Gtdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01594:Gtdc1
|
APN |
2 |
44,481,891 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02133:Gtdc1
|
APN |
2 |
44,465,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02465:Gtdc1
|
APN |
2 |
44,460,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02488:Gtdc1
|
APN |
2 |
44,715,451 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02835:Gtdc1
|
UTSW |
2 |
44,646,324 (GRCm39) |
nonsense |
probably null |
|
K3955:Gtdc1
|
UTSW |
2 |
44,642,233 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0121:Gtdc1
|
UTSW |
2 |
44,455,550 (GRCm39) |
splice site |
probably benign |
|
R0270:Gtdc1
|
UTSW |
2 |
44,642,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0490:Gtdc1
|
UTSW |
2 |
44,525,052 (GRCm39) |
missense |
probably benign |
0.03 |
R1506:Gtdc1
|
UTSW |
2 |
44,465,506 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1889:Gtdc1
|
UTSW |
2 |
44,481,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:Gtdc1
|
UTSW |
2 |
44,642,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3724:Gtdc1
|
UTSW |
2 |
44,646,319 (GRCm39) |
missense |
probably damaging |
0.96 |
R4134:Gtdc1
|
UTSW |
2 |
44,715,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4416:Gtdc1
|
UTSW |
2 |
44,465,602 (GRCm39) |
splice site |
probably null |
|
R4666:Gtdc1
|
UTSW |
2 |
44,481,937 (GRCm39) |
missense |
probably benign |
0.05 |
R4732:Gtdc1
|
UTSW |
2 |
44,679,067 (GRCm39) |
intron |
probably benign |
|
R4947:Gtdc1
|
UTSW |
2 |
44,481,968 (GRCm39) |
missense |
probably null |
0.01 |
R5474:Gtdc1
|
UTSW |
2 |
44,646,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Gtdc1
|
UTSW |
2 |
44,642,076 (GRCm39) |
missense |
probably benign |
0.41 |
R6370:Gtdc1
|
UTSW |
2 |
44,646,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R6809:Gtdc1
|
UTSW |
2 |
44,465,563 (GRCm39) |
nonsense |
probably null |
|
R7270:Gtdc1
|
UTSW |
2 |
44,525,322 (GRCm39) |
missense |
probably benign |
0.01 |
R7581:Gtdc1
|
UTSW |
2 |
44,680,017 (GRCm39) |
splice site |
probably null |
|
R8547:Gtdc1
|
UTSW |
2 |
44,678,993 (GRCm39) |
intron |
probably benign |
|
R8951:Gtdc1
|
UTSW |
2 |
44,679,030 (GRCm39) |
intron |
probably benign |
|
R8997:Gtdc1
|
UTSW |
2 |
44,715,386 (GRCm39) |
missense |
probably benign |
0.02 |
R9796:Gtdc1
|
UTSW |
2 |
44,715,386 (GRCm39) |
missense |
probably benign |
0.02 |
X0063:Gtdc1
|
UTSW |
2 |
44,460,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAGCCACTATCAGACAG -3'
(R):5'- ATCTGAAGGTTTGAACAGGCC -3'
Sequencing Primer
(F):5'- GGGAGCCACTATCAGACAGTTTTTC -3'
(R):5'- GGCCAATGAGTATTGTCATCATCGAG -3'
|
Posted On |
2018-09-12 |