Incidental Mutation 'IGL02744:Ttll1'
ID |
306001 |
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 # |
IGL02744
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
83367970-83395094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83373778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 345
(Y345C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109479]
[ENSMUST00000109480]
|
AlphaFold |
Q91V51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016897
AA Change: Y345C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000016897 Gene: ENSMUSG00000022442 AA Change: Y345C
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
5.3e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109479
|
SMART Domains |
Protein: ENSMUSP00000105105 Gene: ENSMUSG00000022442
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
49 |
297 |
1.5e-83 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109480
AA Change: Y345C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105106 Gene: ENSMUSG00000022442 AA Change: Y345C
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930564D02Rik |
A |
G |
3: 104,985,852 (GRCm39) |
M89V |
unknown |
Het |
Actl11 |
C |
A |
9: 107,807,061 (GRCm39) |
H461Q |
probably benign |
Het |
Aoc1l1 |
A |
G |
6: 48,952,249 (GRCm39) |
E58G |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,294,711 (GRCm39) |
R973S |
possibly damaging |
Het |
Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,807,279 (GRCm39) |
S713T |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,255,848 (GRCm39) |
I458V |
probably benign |
Het |
Galnt17 |
A |
G |
5: 131,140,613 (GRCm39) |
I168T |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,788,471 (GRCm39) |
|
probably null |
Het |
Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
Gm8206 |
T |
C |
14: 6,022,488 (GRCm38) |
I4V |
possibly damaging |
Het |
Golga1 |
A |
G |
2: 38,908,486 (GRCm39) |
S713P |
probably damaging |
Het |
Ing5 |
T |
C |
1: 93,744,210 (GRCm39) |
M172T |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,738,808 (GRCm39) |
T27A |
probably benign |
Het |
Or2b28 |
A |
G |
13: 21,531,164 (GRCm39) |
Y22C |
probably damaging |
Het |
Pou5f1 |
T |
C |
17: 35,820,311 (GRCm39) |
V40A |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,493 (GRCm39) |
L358Q |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
Psg18 |
T |
A |
7: 18,083,327 (GRCm39) |
Q276L |
probably benign |
Het |
Ralgapb |
A |
C |
2: 158,288,071 (GRCm39) |
Q369H |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,146,776 (GRCm39) |
N300D |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,253,894 (GRCm39) |
E610V |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,878,954 (GRCm39) |
V480A |
possibly damaging |
Het |
Speer1j |
C |
T |
5: 11,555,340 (GRCm39) |
T103I |
possibly damaging |
Het |
Spg7 |
T |
C |
8: 123,820,400 (GRCm39) |
F617S |
probably damaging |
Het |
Srcap |
A |
G |
7: 127,133,838 (GRCm39) |
D863G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Suox |
T |
C |
10: 128,507,086 (GRCm39) |
E314G |
probably benign |
Het |
Tln2 |
T |
A |
9: 67,136,658 (GRCm39) |
K1276* |
probably null |
Het |
Tmem72 |
A |
G |
6: 116,672,451 (GRCm39) |
L130P |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,090,914 (GRCm39) |
|
probably null |
Het |
Xpo6 |
G |
A |
7: 125,707,620 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
A |
T |
12: 98,751,234 (GRCm39) |
Y512F |
possibly damaging |
Het |
Zfp438 |
A |
T |
18: 5,214,760 (GRCm39) |
M66K |
probably benign |
Het |
|
Other mutations in Ttll1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02129:Ttll1
|
APN |
15 |
83,368,450 (GRCm39) |
missense |
probably benign |
|
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 |