Incidental Mutation 'R8240:Ttll1'
ID |
640925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll1
|
Ensembl Gene |
ENSMUSG00000022442 |
Gene Name |
tubulin tyrosine ligase-like 1 |
Synonyms |
6330444E16Rik |
MMRRC Submission |
067671-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R8240 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
83367970-83395094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 83376783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 313
(D313E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109479]
[ENSMUST00000109480]
|
AlphaFold |
Q91V51 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016897
AA Change: D313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016897 Gene: ENSMUSG00000022442 AA Change: D313E
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 damaging
Transcript: ENSMUST00000109480
AA Change: D313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105106 Gene: ENSMUSG00000022442 AA Change: D313E
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
6.6e-116 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610524H06Rik |
A |
T |
5: 114,961,472 (GRCm39) |
V12E |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,741,082 (GRCm39) |
F997L |
probably benign |
Het |
Baiap3 |
A |
T |
17: 25,464,288 (GRCm39) |
|
probably null |
Het |
Cct6b |
A |
G |
11: 82,614,650 (GRCm39) |
I446T |
probably damaging |
Het |
Cfap206 |
A |
G |
4: 34,728,902 (GRCm39) |
M1T |
probably null |
Het |
Clca4a |
T |
C |
3: 144,676,488 (GRCm39) |
Y64C |
probably damaging |
Het |
Col24a1 |
A |
T |
3: 145,213,457 (GRCm39) |
Q1354L |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,486,660 (GRCm39) |
V171A |
probably damaging |
Het |
Cyp3a44 |
G |
A |
5: 145,725,257 (GRCm39) |
L315F |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,874,485 (GRCm39) |
D1379V |
probably benign |
Het |
Gstm6 |
T |
A |
3: 107,849,453 (GRCm39) |
D119V |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Hibch |
T |
A |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
Il1rap |
G |
A |
16: 26,520,001 (GRCm39) |
E356K |
probably benign |
Het |
Itm2c |
G |
T |
1: 85,822,457 (GRCm39) |
G25C |
probably benign |
Het |
Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
Mcee |
A |
G |
7: 64,061,665 (GRCm39) |
H156R |
possibly damaging |
Het |
Myh3 |
C |
A |
11: 66,983,196 (GRCm39) |
Q908K |
probably benign |
Het |
Ncoa7 |
A |
G |
10: 30,567,725 (GRCm39) |
S318P |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,402,487 (GRCm39) |
N1208D |
probably benign |
Het |
Or10p21 |
T |
A |
10: 128,847,766 (GRCm39) |
I204K |
possibly damaging |
Het |
Or4a15 |
C |
T |
2: 89,192,896 (GRCm39) |
M292I |
probably benign |
Het |
P2rx7 |
C |
T |
5: 122,793,096 (GRCm39) |
P140S |
probably damaging |
Het |
Plcd4 |
C |
G |
1: 74,593,660 (GRCm39) |
H262D |
probably benign |
Het |
Prps1l1 |
T |
C |
12: 35,035,140 (GRCm39) |
V85A |
probably damaging |
Het |
Prss27 |
G |
A |
17: 24,263,919 (GRCm39) |
V202I |
probably benign |
Het |
Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
Slc43a1 |
A |
G |
2: 84,690,167 (GRCm39) |
H491R |
possibly damaging |
Het |
Slc44a2 |
A |
G |
9: 21,253,481 (GRCm39) |
D83G |
probably benign |
Het |
Spag6l |
A |
G |
16: 16,580,889 (GRCm39) |
V486A |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,460,436 (GRCm39) |
Q3408L |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,388 (GRCm39) |
D1854G |
probably benign |
Het |
Tjp3 |
G |
A |
10: 81,109,641 (GRCm39) |
T854I |
probably benign |
Het |
Tmsb10b |
A |
C |
7: 24,561,805 (GRCm39) |
I35L |
probably benign |
Het |
Trim30a |
C |
T |
7: 104,070,663 (GRCm39) |
G250D |
probably benign |
Het |
Zfp160 |
A |
T |
17: 21,246,350 (GRCm39) |
N300I |
probably damaging |
Het |
Zfp458 |
C |
T |
13: 67,406,190 (GRCm39) |
C83Y |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,798,188 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCCTCTCTGCTTCAAAGG -3'
(R):5'- GTTTGAACCTGGTTGCACAG -3'
Sequencing Primer
(F):5'- TCTCTGCTTCAAAGGGCAGAC -3'
(R):5'- TGTGCAAATGAGTGTATATGCACGC -3'
|
Posted On |
2020-07-28 |