Incidental Mutation 'R4473:Ttll1'
| ID |
330468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll1
|
| Ensembl Gene |
ENSMUSG00000022442 |
| Gene Name |
tubulin tyrosine ligase-like 1 |
| Synonyms |
6330444E16Rik |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R4473 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83367970-83395094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83376810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 304
(K304N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109479]
[ENSMUST00000109480]
|
| AlphaFold |
Q91V51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016897
AA Change: K304N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: K304N
| 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: K304N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: K304N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
50 |
364 |
6.6e-116 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
| Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTCACTTCCAAATCATGC -3'
(R):5'- GTTTGAACCTGGTTGCACAG -3'
Sequencing Primer
(F):5'- TCATGCCTTAACACATGCGGG -3'
(R):5'- TGTGCAAATGAGTGTATATGCACGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation