Incidental Mutation 'IGL02129:Ttll1'
ID |
280967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttll1
|
Ensembl Gene |
ENSMUSG00000022442 |
Gene Name |
tubulin tyrosine ligase-like 1 |
Synonyms |
6330444E16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.925)
|
Stock # |
IGL02129
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
83367970-83395094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83368450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 403
(P403S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109480]
|
AlphaFold |
Q91V51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016897
AA Change: P403S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016897 Gene: ENSMUSG00000022442 AA Change: P403S
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
5.3e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109480
AA Change: P403S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105106 Gene: ENSMUSG00000022442 AA Change: P403S
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
6.6e-116 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit short sperm flagellum, abnormal tracheal cilia morphology and function, abnormal mucociliary clearance, and rhinosinitus with coughing or sneezing-like noises. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
Other mutations in Ttll1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02744:Ttll1
|
APN |
15 |
83,373,778 (GRCm39) |
missense |
probably benign |
0.00 |
R0639:Ttll1
|
UTSW |
15 |
83,386,426 (GRCm39) |
nonsense |
probably null |
|
R1248:Ttll1
|
UTSW |
15 |
83,386,326 (GRCm39) |
missense |
probably benign |
0.13 |
R1581:Ttll1
|
UTSW |
15 |
83,380,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R1599:Ttll1
|
UTSW |
15 |
83,381,555 (GRCm39) |
missense |
probably benign |
0.36 |
R2264:Ttll1
|
UTSW |
15 |
83,380,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Ttll1
|
UTSW |
15 |
83,376,760 (GRCm39) |
missense |
probably damaging |
0.97 |
R3786:Ttll1
|
UTSW |
15 |
83,368,419 (GRCm39) |
missense |
probably benign |
0.00 |
R4200:Ttll1
|
UTSW |
15 |
83,376,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4364:Ttll1
|
UTSW |
15 |
83,384,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R4473:Ttll1
|
UTSW |
15 |
83,376,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R4590:Ttll1
|
UTSW |
15 |
83,381,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R4949:Ttll1
|
UTSW |
15 |
83,386,374 (GRCm39) |
missense |
probably null |
1.00 |
R4970:Ttll1
|
UTSW |
15 |
83,380,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Ttll1
|
UTSW |
15 |
83,380,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5231:Ttll1
|
UTSW |
15 |
83,373,667 (GRCm39) |
splice site |
probably null |
|
R5911:Ttll1
|
UTSW |
15 |
83,386,482 (GRCm39) |
missense |
probably benign |
0.07 |
R6368:Ttll1
|
UTSW |
15 |
83,373,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6636:Ttll1
|
UTSW |
15 |
83,384,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Ttll1
|
UTSW |
15 |
83,386,397 (GRCm39) |
nonsense |
probably null |
|
R7848:Ttll1
|
UTSW |
15 |
83,381,573 (GRCm39) |
missense |
probably damaging |
0.97 |
R8207:Ttll1
|
UTSW |
15 |
83,384,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Ttll1
|
UTSW |
15 |
83,376,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Ttll1
|
UTSW |
15 |
83,373,709 (GRCm39) |
missense |
probably benign |
0.01 |
R9195:Ttll1
|
UTSW |
15 |
83,373,779 (GRCm39) |
missense |
probably benign |
0.00 |
R9583:Ttll1
|
UTSW |
15 |
83,384,226 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9601:Ttll1
|
UTSW |
15 |
83,380,516 (GRCm39) |
missense |
probably benign |
0.00 |
R9663:Ttll1
|
UTSW |
15 |
83,380,579 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1088:Ttll1
|
UTSW |
15 |
83,382,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |