Incidental Mutation 'IGL00845:Tcp11l2'
| ID |
14412 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcp11l2
|
| Ensembl Gene |
ENSMUSG00000020034 |
| Gene Name |
t-complex 11 (mouse) like 2 |
| Synonyms |
E430026E19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL00845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84412811-84450219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84440847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 351
(V351A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020223]
|
| AlphaFold |
Q8K1H7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020223
AA Change: V351A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: V351A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
|
Pfam:Tcp11
|
77 |
497 |
5.8e-103 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160057
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,823,174 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,038,250 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,480,757 (GRCm39) |
S4473F |
probably damaging |
Het |
| Mcf2 |
T |
A |
X: 59,172,446 (GRCm39) |
D429V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,605 (GRCm39) |
D455G |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,391,424 (GRCm39) |
Y978H |
probably damaging |
Het |
| Naglu |
A |
G |
11: 100,967,778 (GRCm39) |
E576G |
possibly damaging |
Het |
| Rbm20 |
T |
C |
19: 53,806,380 (GRCm39) |
Y487H |
probably damaging |
Het |
| Slc12a1 |
T |
A |
2: 125,030,158 (GRCm39) |
C577S |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,215,696 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
C |
T |
1: 12,867,191 (GRCm39) |
T125I |
probably damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,269,745 (GRCm39) |
V198I |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,607 (GRCm39) |
D1147G |
probably benign |
Het |
| Tmem185a |
A |
T |
X: 69,505,923 (GRCm39) |
|
probably null |
Het |
| Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
| Zfp599 |
T |
A |
9: 22,162,814 (GRCm39) |
|
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,794,406 (GRCm39) |
V908A |
probably benign |
Het |
|
| Other mutations in Tcp11l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Tcp11l2
|
APN |
10 |
84,430,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02375:Tcp11l2
|
APN |
10 |
84,440,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02418:Tcp11l2
|
APN |
10 |
84,449,470 (GRCm39) |
nonsense |
probably null |
|
|
IGL03325:Tcp11l2
|
APN |
10 |
84,440,764 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0031:Tcp11l2
|
UTSW |
10 |
84,427,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0591:Tcp11l2
|
UTSW |
10 |
84,440,458 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1563:Tcp11l2
|
UTSW |
10 |
84,420,808 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1607:Tcp11l2
|
UTSW |
10 |
84,449,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Tcp11l2
|
UTSW |
10 |
84,440,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2144:Tcp11l2
|
UTSW |
10 |
84,449,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Tcp11l2
|
UTSW |
10 |
84,440,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4289:Tcp11l2
|
UTSW |
10 |
84,440,937 (GRCm39) |
splice site |
probably null |
|
|
R4639:Tcp11l2
|
UTSW |
10 |
84,420,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Tcp11l2
|
UTSW |
10 |
84,449,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4973:Tcp11l2
|
UTSW |
10 |
84,427,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5264:Tcp11l2
|
UTSW |
10 |
84,449,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Tcp11l2
|
UTSW |
10 |
84,430,661 (GRCm39) |
splice site |
probably benign |
|
|
R6966:Tcp11l2
|
UTSW |
10 |
84,427,133 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7250:Tcp11l2
|
UTSW |
10 |
84,423,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7535:Tcp11l2
|
UTSW |
10 |
84,430,523 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7565:Tcp11l2
|
UTSW |
10 |
84,422,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7619:Tcp11l2
|
UTSW |
10 |
84,430,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Tcp11l2
|
UTSW |
10 |
84,440,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8145:Tcp11l2
|
UTSW |
10 |
84,444,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8379:Tcp11l2
|
UTSW |
10 |
84,449,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Tcp11l2
|
UTSW |
10 |
84,449,396 (GRCm39) |
nonsense |
probably null |
|
|
R8821:Tcp11l2
|
UTSW |
10 |
84,449,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Tcp11l2
|
UTSW |
10 |
84,449,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Tcp11l2
|
UTSW |
10 |
84,449,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation