Incidental Mutation 'IGL02436:Tent5c'
| ID |
293275 |
| 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 # |
IGL02436
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
100375373-100396508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100379823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 311
(R311L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061455]
|
| AlphaFold |
Q5SSF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061455
AA Change: R311L
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: R311L
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Carm1 |
A |
T |
9: 21,490,758 (GRCm39) |
R209W |
probably damaging |
Het |
| Clec4a2 |
A |
G |
6: 123,117,637 (GRCm39) |
D185G |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,056,602 (GRCm39) |
S524P |
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,807,108 (GRCm39) |
|
probably benign |
Het |
| Hdx |
A |
T |
X: 110,510,445 (GRCm39) |
D512E |
probably damaging |
Het |
| Hs6st2 |
T |
G |
X: 50,768,891 (GRCm39) |
T275P |
possibly damaging |
Het |
| Hus1 |
T |
C |
11: 8,956,057 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,389,003 (GRCm39) |
T2141A |
unknown |
Het |
| Ncoa7 |
A |
T |
10: 30,570,143 (GRCm39) |
I272N |
probably damaging |
Het |
| Or10ad1b |
G |
T |
15: 98,125,171 (GRCm39) |
C118* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,815,950 (GRCm39) |
K188E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,542,072 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
G |
T |
4: 144,119,539 (GRCm39) |
P343T |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,181,497 (GRCm39) |
P9S |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,156,478 (GRCm39) |
L307I |
probably benign |
Het |
| Srebf2 |
G |
A |
15: 82,081,928 (GRCm39) |
G87S |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tex30 |
T |
C |
1: 44,127,665 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,669,021 (GRCm39) |
I1181K |
probably benign |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
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 |
|
IGL01863:Tent5c
|
APN |
3 |
100,379,980 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01992:Tent5c
|
APN |
3 |
100,379,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation