Incidental Mutation 'IGL02933:Ttll11'
| ID |
364197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll11
|
| Ensembl Gene |
ENSMUSG00000026885 |
| Gene Name |
tubulin tyrosine ligase-like family, member 11 |
| Synonyms |
4932702F08Rik, 4933424A20Rik, D2Ertd624e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35869422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 72
(H72R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000161970]
|
| AlphaFold |
A4Q9F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028248
AA Change: H72R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: H72R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
170 |
477 |
9.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112976
AA Change: H72R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: H72R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
170 |
477 |
5.9e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161970
AA Change: H72R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125627
Gene: ENSMUSG00000026885
AA Change: H72R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gosa1
|
33 |
88 |
5e-3 |
SMART |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Ttll11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Ttll11
|
APN |
2 |
35,792,732 (GRCm39) |
nonsense |
probably null |
|
|
IGL01148:Ttll11
|
APN |
2 |
35,674,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
e-suppressor
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Ttll11
|
UTSW |
2 |
35,792,688 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0494:Ttll11
|
UTSW |
2 |
35,834,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Ttll11
|
UTSW |
2 |
35,779,337 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1688:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Ttll11
|
UTSW |
2 |
35,830,765 (GRCm39) |
missense |
probably null |
|
|
R2414:Ttll11
|
UTSW |
2 |
35,869,546 (GRCm39) |
missense |
unknown |
|
|
R2986:Ttll11
|
UTSW |
2 |
35,707,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Ttll11
|
UTSW |
2 |
35,869,564 (GRCm39) |
small deletion |
probably benign |
|
|
R4346:Ttll11
|
UTSW |
2 |
35,674,130 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5234:Ttll11
|
UTSW |
2 |
35,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Ttll11
|
UTSW |
2 |
35,792,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5442:Ttll11
|
UTSW |
2 |
35,793,135 (GRCm39) |
makesense |
probably null |
|
|
R5482:Ttll11
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ttll11
|
UTSW |
2 |
35,707,798 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6219:Ttll11
|
UTSW |
2 |
35,642,511 (GRCm39) |
splice site |
probably null |
|
|
R6481:Ttll11
|
UTSW |
2 |
35,792,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Ttll11
|
UTSW |
2 |
35,780,460 (GRCm39) |
splice site |
probably null |
|
|
R6944:Ttll11
|
UTSW |
2 |
35,642,306 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7224:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Ttll11
|
UTSW |
2 |
35,793,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Ttll11
|
UTSW |
2 |
35,869,527 (GRCm39) |
missense |
unknown |
|
|
R8200:Ttll11
|
UTSW |
2 |
35,834,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Ttll11
|
UTSW |
2 |
35,830,721 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8691:Ttll11
|
UTSW |
2 |
35,674,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Ttll11
|
UTSW |
2 |
35,792,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Ttll11
|
UTSW |
2 |
35,707,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9054:Ttll11
|
UTSW |
2 |
35,869,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0026:Ttll11
|
UTSW |
2 |
35,685,364 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation