Incidental Mutation 'R4453:Tma16'
ID |
329048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tma16
|
Ensembl Gene |
ENSMUSG00000025591 |
Gene Name |
translation machinery associated 16 |
Synonyms |
1810029B16Rik |
MMRRC Submission |
041152-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R4453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
66928995-66939182 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to T
at 66936823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026681]
[ENSMUST00000143972]
|
AlphaFold |
Q9CR02 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026681
|
SMART Domains |
Protein: ENSMUSP00000026681 Gene: ENSMUSG00000025591
Domain | Start | End | E-Value | Type |
Pfam:DUF2962
|
10 |
162 |
1.6e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213036
|
Meta Mutation Damage Score |
0.9588 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
Het |
|
Other mutations in Tma16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Tma16
|
APN |
8 |
66,933,097 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01321:Tma16
|
APN |
8 |
66,929,512 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02022:Tma16
|
APN |
8 |
66,939,062 (GRCm39) |
critical splice donor site |
probably null |
|
R0064:Tma16
|
UTSW |
8 |
66,929,457 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3401:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3402:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3403:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4399:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4402:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4421:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4493:Tma16
|
UTSW |
8 |
66,936,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4856:Tma16
|
UTSW |
8 |
66,934,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R4886:Tma16
|
UTSW |
8 |
66,934,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Tma16
|
UTSW |
8 |
66,936,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6312:Tma16
|
UTSW |
8 |
66,934,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R8437:Tma16
|
UTSW |
8 |
66,929,448 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9229:Tma16
|
UTSW |
8 |
66,936,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTAGATGCATAAAGGCGCTTTC -3'
(R):5'- AACTACTTTAAGCTGGCATGGC -3'
Sequencing Primer
(F):5'- ATAAAGGCGCTTTCCCCAGTG -3'
(R):5'- TAAGCTGGCATGGCTGAGTCAC -3'
|
Posted On |
2015-07-21 |