Incidental Mutation 'R3402:Tma16'
| ID |
259230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tma16
|
| Ensembl Gene |
ENSMUSG00000025591 |
| Gene Name |
translation machinery associated 16 |
| Synonyms |
1810029B16Rik |
| MMRRC Submission |
040621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R3402 (G1)
|
| Quality Score |
208 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
| Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
| Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
probably benign |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
| Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
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 |
|
|
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 |
|
|
R4453: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 |
2015-01-23 |
Incidental Mutation