Incidental Mutation 'IGL03325:Tcp11l2'
ID |
416612 |
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 # |
IGL03325
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
84412811-84450219 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84440764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 323
(D323E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020223]
|
AlphaFold |
Q8K1H7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020223
AA Change: D323E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000020223 Gene: ENSMUSG00000020034 AA Change: D323E
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
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 |
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 |
|
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 |
2016-08-02 |