Incidental Mutation 'R4364:Ttll1'
| ID |
325684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll1
|
| Ensembl Gene |
ENSMUSG00000022442 |
| Gene Name |
tubulin tyrosine ligase-like 1 |
| Synonyms |
6330444E16Rik |
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R4364 (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 83384195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 144
(Q144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016897]
[ENSMUST00000109479]
[ENSMUST00000109480]
[ENSMUST00000154401]
|
| AlphaFold |
Q91V51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016897
AA Change: Q144L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
50 |
364 |
5.3e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109479
AA Change: Q144L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105105
Gene: ENSMUSG00000022442
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
49 |
297 |
1.5e-83 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109480
AA Change: Q144L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
50 |
364 |
6.6e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154401
|
| SMART Domains |
Protein: ENSMUSP00000117790
Gene: ENSMUSG00000022442
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
48 |
89 |
9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.4808 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| 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 |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,891,056 (GRCm39) |
V396A |
probably damaging |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Glipr1 |
T |
C |
10: 111,821,542 (GRCm39) |
N220S |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Prkce |
C |
T |
17: 86,784,279 (GRCm39) |
T218I |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAACGAGTACATGGCTG -3'
(R):5'- AGGACAGTGTGCTGATGAGC -3'
Sequencing Primer
(F):5'- ACGAGTACATGGCTGGAAAAG -3'
(R):5'- AGGTGGGCAGCCACTTATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation