Incidental Mutation 'R1242:Tent5c'
ID |
152036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tent5c
|
Ensembl Gene |
ENSMUSG00000044468 |
Gene Name |
terminal nucleotidyltransferase 5C |
Synonyms |
4930431B09Rik, Fam46c |
MMRRC Submission |
039309-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1242 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
100375373-100396508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100380192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 188
(L188Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061455]
|
AlphaFold |
Q5SSF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061455
AA Change: L188Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056872 Gene: ENSMUSG00000044468 AA Change: L188Q
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGGTAGGTCTCCAGCTTCCTC -3'
(R):5'- GCGTGAATAAGCTCAAAATCAGCCC -3'
Sequencing Primer
(F):5'- GTTGCTGTACTTAAGGAGACCCC -3'
(R):5'- CCGTCACCCTGAAGGAGG -3'
|
Posted On |
2014-01-29 |