Incidental Mutation 'IGL01677:Ttll3'
ID |
103670 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttll3
|
Ensembl Gene |
ENSMUSG00000030276 |
Gene Name |
tubulin tyrosine ligase-like family, member 3 |
Synonyms |
4833441J24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01677
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113366221-113391548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113389945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 778
(R778G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032414]
[ENSMUST00000038889]
[ENSMUST00000060634]
[ENSMUST00000113092]
[ENSMUST00000129047]
[ENSMUST00000205017]
[ENSMUST00000129560]
|
AlphaFold |
A4Q9E5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032414
AA Change: R777G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032414 Gene: ENSMUSG00000030276 AA Change: R777G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
low complexity region
|
214 |
231 |
N/A |
INTRINSIC |
low complexity region
|
234 |
248 |
N/A |
INTRINSIC |
Pfam:TTL
|
404 |
698 |
7.7e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038889
AA Change: R778G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037870 Gene: ENSMUSG00000030276 AA Change: R778G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
low complexity region
|
214 |
231 |
N/A |
INTRINSIC |
low complexity region
|
234 |
248 |
N/A |
INTRINSIC |
Pfam:TTL
|
404 |
699 |
9e-85 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060634
|
SMART Domains |
Protein: ENSMUSP00000059057 Gene: ENSMUSG00000051169
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
82 |
236 |
1.8e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113092
|
SMART Domains |
Protein: ENSMUSP00000108715 Gene: ENSMUSG00000051169
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
82 |
246 |
7.4e-20 |
PFAM |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129047
|
SMART Domains |
Protein: ENSMUSP00000120380 Gene: ENSMUSG00000051169
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
82 |
246 |
5.9e-20 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000203524
AA Change: R624G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203758
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205017
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147726
|
SMART Domains |
Protein: ENSMUSP00000120250 Gene: ENSMUSG00000051169
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
71 |
235 |
2.8e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151618
|
SMART Domains |
Protein: ENSMUSP00000115950 Gene: ENSMUSG00000051169
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
72 |
179 |
5.2e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
Klre1 |
G |
T |
6: 129,559,006 (GRCm39) |
G75C |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
Map3k7 |
T |
C |
4: 32,017,158 (GRCm39) |
|
probably benign |
Het |
Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
Phtf1 |
T |
A |
3: 103,906,099 (GRCm39) |
S594T |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
Rtcb |
C |
A |
10: 85,779,793 (GRCm39) |
Q292H |
probably damaging |
Het |
Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
Susd2 |
A |
T |
10: 75,475,265 (GRCm39) |
V515E |
possibly damaging |
Het |
Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly damaging |
Het |
|
Other mutations in Ttll3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01338:Ttll3
|
APN |
6 |
113,371,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01697:Ttll3
|
APN |
6 |
113,376,690 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01944:Ttll3
|
APN |
6 |
113,391,076 (GRCm39) |
missense |
probably benign |
|
IGL02688:Ttll3
|
APN |
6 |
113,376,700 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03068:Ttll3
|
APN |
6 |
113,386,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Ttll3
|
UTSW |
6 |
113,375,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0472:Ttll3
|
UTSW |
6 |
113,386,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R0625:Ttll3
|
UTSW |
6 |
113,385,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1868:Ttll3
|
UTSW |
6 |
113,369,725 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2026:Ttll3
|
UTSW |
6 |
113,375,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Ttll3
|
UTSW |
6 |
113,386,003 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2128:Ttll3
|
UTSW |
6 |
113,389,895 (GRCm39) |
missense |
probably benign |
0.31 |
R2896:Ttll3
|
UTSW |
6 |
113,369,683 (GRCm39) |
missense |
probably benign |
0.15 |
R2903:Ttll3
|
UTSW |
6 |
113,384,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R2906:Ttll3
|
UTSW |
6 |
113,369,471 (GRCm39) |
unclassified |
probably benign |
|
R4659:Ttll3
|
UTSW |
6 |
113,391,102 (GRCm39) |
missense |
probably benign |
|
R4746:Ttll3
|
UTSW |
6 |
113,384,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4984:Ttll3
|
UTSW |
6 |
113,389,901 (GRCm39) |
missense |
probably benign |
0.00 |
R5358:Ttll3
|
UTSW |
6 |
113,378,292 (GRCm39) |
missense |
probably benign |
0.26 |
R5372:Ttll3
|
UTSW |
6 |
113,378,382 (GRCm39) |
nonsense |
probably null |
|
R5525:Ttll3
|
UTSW |
6 |
113,389,939 (GRCm39) |
missense |
probably benign |
|
R5548:Ttll3
|
UTSW |
6 |
113,370,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Ttll3
|
UTSW |
6 |
113,376,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Ttll3
|
UTSW |
6 |
113,374,992 (GRCm39) |
nonsense |
probably null |
|
R6119:Ttll3
|
UTSW |
6 |
113,371,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Ttll3
|
UTSW |
6 |
113,369,524 (GRCm39) |
missense |
probably benign |
0.00 |
R6719:Ttll3
|
UTSW |
6 |
113,375,993 (GRCm39) |
intron |
probably benign |
|
R6852:Ttll3
|
UTSW |
6 |
113,376,120 (GRCm39) |
frame shift |
probably null |
|
R6852:Ttll3
|
UTSW |
6 |
113,376,116 (GRCm39) |
frame shift |
probably null |
|
R6852:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R6853:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R6854:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7170:Ttll3
|
UTSW |
6 |
113,390,839 (GRCm39) |
missense |
probably benign |
0.41 |
R7239:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7302:Ttll3
|
UTSW |
6 |
113,386,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R7330:Ttll3
|
UTSW |
6 |
113,376,125 (GRCm39) |
frame shift |
probably null |
|
R7330:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7586:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7587:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7701:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7702:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7776:Ttll3
|
UTSW |
6 |
113,376,120 (GRCm39) |
frame shift |
probably null |
|
R7793:Ttll3
|
UTSW |
6 |
113,376,120 (GRCm39) |
frame shift |
probably null |
|
R7797:Ttll3
|
UTSW |
6 |
113,371,738 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7824:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7825:Ttll3
|
UTSW |
6 |
113,376,120 (GRCm39) |
frame shift |
probably null |
|
R7825:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7826:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7827:Ttll3
|
UTSW |
6 |
113,376,123 (GRCm39) |
frame shift |
probably null |
|
R7827:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7831:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7832:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R7833:Ttll3
|
UTSW |
6 |
113,386,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7966:Ttll3
|
UTSW |
6 |
113,376,118 (GRCm39) |
frame shift |
probably null |
|
R8344:Ttll3
|
UTSW |
6 |
113,371,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R8418:Ttll3
|
UTSW |
6 |
113,371,734 (GRCm39) |
missense |
probably benign |
0.04 |
R8768:Ttll3
|
UTSW |
6 |
113,385,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9017:Ttll3
|
UTSW |
6 |
113,389,850 (GRCm39) |
missense |
probably benign |
0.00 |
R9036:Ttll3
|
UTSW |
6 |
113,376,657 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9090:Ttll3
|
UTSW |
6 |
113,369,596 (GRCm39) |
missense |
probably benign |
|
R9271:Ttll3
|
UTSW |
6 |
113,369,596 (GRCm39) |
missense |
probably benign |
|
R9329:Ttll3
|
UTSW |
6 |
113,369,635 (GRCm39) |
missense |
probably benign |
|
R9532:Ttll3
|
UTSW |
6 |
113,385,970 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9535:Ttll3
|
UTSW |
6 |
113,389,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R9725:Ttll3
|
UTSW |
6 |
113,386,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |