Incidental Mutation 'IGL01863:Tent5c'
ID |
178431 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tent5c
|
Ensembl Gene |
ENSMUSG00000044468 |
Gene Name |
terminal nucleotidyltransferase 5C |
Synonyms |
4930431B09Rik, Fam46c |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
100375373-100396508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100379980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 259
(D259N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061455]
|
AlphaFold |
Q5SSF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061455
AA Change: D259N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000056872 Gene: ENSMUSG00000044468 AA Change: D259N
Domain | Start | End | E-Value | Type |
DUF1693
|
17 |
336 |
3.33e-241 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139833
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
Other mutations in Tent5c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:Tent5c
|
APN |
3 |
100,380,672 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01314:Tent5c
|
APN |
3 |
100,380,490 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01409:Tent5c
|
APN |
3 |
100,380,485 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01817:Tent5c
|
APN |
3 |
100,380,171 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01992:Tent5c
|
APN |
3 |
100,379,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02436:Tent5c
|
APN |
3 |
100,379,823 (GRCm39) |
missense |
probably benign |
0.43 |
R0111:Tent5c
|
UTSW |
3 |
100,380,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R0529:Tent5c
|
UTSW |
3 |
100,379,686 (GRCm39) |
missense |
probably benign |
0.36 |
R1196:Tent5c
|
UTSW |
3 |
100,380,316 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1242:Tent5c
|
UTSW |
3 |
100,380,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4671:Tent5c
|
UTSW |
3 |
100,380,515 (GRCm39) |
missense |
probably benign |
0.44 |
R5252:Tent5c
|
UTSW |
3 |
100,380,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6730:Tent5c
|
UTSW |
3 |
100,380,273 (GRCm39) |
missense |
probably benign |
0.07 |
R8205:Tent5c
|
UTSW |
3 |
100,380,138 (GRCm39) |
missense |
probably benign |
0.04 |
R8282:Tent5c
|
UTSW |
3 |
100,380,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Tent5c
|
UTSW |
3 |
100,379,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8883:Tent5c
|
UTSW |
3 |
100,379,707 (GRCm39) |
missense |
probably benign |
0.01 |
R9052:Tent5c
|
UTSW |
3 |
100,380,618 (GRCm39) |
missense |
probably benign |
0.12 |
R9259:Tent5c
|
UTSW |
3 |
100,379,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |