Incidental Mutation 'IGL00725:Tcp11l2'
| ID |
14411 |
| 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: 0.128)
|
| Stock # |
IGL00725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84412811-84450219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84430574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 233
(I233T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020223]
|
| AlphaFold |
Q8K1H7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020223
AA Change: I233T
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: I233T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162874
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
G |
T |
3: 35,881,222 (GRCm39) |
R593L |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,463,908 (GRCm39) |
D566E |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,329,946 (GRCm39) |
D912G |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,544,923 (GRCm39) |
D355N |
probably benign |
Het |
| Clock |
A |
C |
5: 76,402,260 (GRCm39) |
Y133* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,639,616 (GRCm39) |
V582E |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,277,460 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,295,691 (GRCm39) |
L43P |
probably damaging |
Het |
| Dnase2b |
G |
A |
3: 146,302,133 (GRCm39) |
T8I |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,208,328 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,331,752 (GRCm39) |
V22A |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,427 (GRCm39) |
I194T |
possibly damaging |
Het |
| Krt9 |
T |
A |
11: 100,080,832 (GRCm39) |
E340V |
probably damaging |
Het |
| Nup58 |
G |
T |
14: 60,480,889 (GRCm39) |
T152K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,923,516 (GRCm39) |
S1050G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,634,503 (GRCm39) |
N3580S |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,836,137 (GRCm39) |
S392P |
probably damaging |
Het |
| Sestd1 |
T |
C |
2: 77,018,866 (GRCm39) |
I647V |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,837,357 (GRCm39) |
S91R |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,344,922 (GRCm38) |
Y1227S |
possibly damaging |
Het |
| Synpo |
C |
T |
18: 60,737,149 (GRCm39) |
V27I |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,187,411 (GRCm39) |
V692A |
probably benign |
Het |
|
| Other mutations in Tcp11l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00845:Tcp11l2
|
APN |
10 |
84,440,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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