Incidental Mutation 'R4949:Ttll1'
ID |
383681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll1
|
Ensembl Gene |
ENSMUSG00000022442 |
Gene Name |
tubulin tyrosine ligase-like 1 |
Synonyms |
6330444E16Rik |
MMRRC Submission |
042546-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R4949 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
83367970-83395094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83386374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 77
(M77K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109479]
[ENSMUST00000109480]
[ENSMUST00000154401]
|
AlphaFold |
Q91V51 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016897
AA Change: M77K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000016897 Gene: ENSMUSG00000022442 AA Change: M77K
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
5.3e-115 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109479
AA Change: M77K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105105 Gene: ENSMUSG00000022442 AA Change: M77K
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
49 |
297 |
1.5e-83 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109480
AA Change: M77K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105106 Gene: ENSMUSG00000022442 AA Change: M77K
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
50 |
364 |
6.6e-116 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131380
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154401
AA Change: M77K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117790 Gene: ENSMUSG00000022442 AA Change: M77K
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
48 |
89 |
9e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
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 |
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 |
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'- CAGTTTCTTCCCTAGGATGCTTAG -3'
(R):5'- AACATGCTGCTGCCATGGAG -3'
Sequencing Primer
(F):5'- TCCCTAGGATGCTTAGGACCTG -3'
(R):5'- CTGCCATGGAGTACACTGGTAAC -3'
|
Posted On |
2016-04-27 |