Incidental Mutation 'R2026:Ttll3'
| ID |
220602 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113366221-113391548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113375731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 297
(V297M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032414]
[ENSMUST00000038889]
[ENSMUST00000204026]
[ENSMUST00000205017]
|
| AlphaFold |
A4Q9E5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032414
AA Change: V297M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: V297M
| 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 damaging
Transcript: ENSMUST00000038889
AA Change: V297M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: V297M
| 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 |
unknown
Transcript: ENSMUST00000203524
AA Change: V144M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204026
AA Change: V149M
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276
AA Change: V149M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205017
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,205 (GRCm39) |
K269R |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,284,862 (GRCm39) |
V251A |
probably benign |
Het |
| Avil |
G |
A |
10: 126,847,742 (GRCm39) |
G556S |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,525,562 (GRCm39) |
Y898C |
probably damaging |
Het |
| Cacng2 |
A |
G |
15: 77,879,720 (GRCm39) |
F201L |
possibly damaging |
Het |
| Casp7 |
T |
A |
19: 56,424,830 (GRCm39) |
I183N |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
| Ctrb1 |
T |
C |
8: 112,415,317 (GRCm39) |
N119S |
probably benign |
Het |
| Cyp3a59 |
G |
A |
5: 146,033,098 (GRCm39) |
V157M |
probably damaging |
Het |
| Dhfr |
G |
T |
13: 92,502,279 (GRCm39) |
G117* |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
| Dlg2 |
C |
A |
7: 91,614,931 (GRCm39) |
P290Q |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,638,629 (GRCm39) |
Q1240L |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,786 (GRCm39) |
S492T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,760,445 (GRCm39) |
I415M |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,788 (GRCm39) |
T5174A |
possibly damaging |
Het |
| Fuca2 |
T |
G |
10: 13,388,391 (GRCm39) |
V389G |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,008,898 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Gm5129 |
G |
A |
5: 29,940,732 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,778,322 (GRCm39) |
R437G |
possibly damaging |
Het |
| Hook3 |
T |
C |
8: 26,528,126 (GRCm39) |
E588G |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,387,738 (GRCm39) |
E301G |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,273,268 (GRCm39) |
F15L |
probably benign |
Het |
| Ice2 |
T |
C |
9: 69,323,607 (GRCm39) |
S701P |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,996 (GRCm39) |
V151A |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
| Man2b1 |
G |
C |
8: 85,821,964 (GRCm39) |
W726C |
probably damaging |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Msh6 |
C |
T |
17: 88,297,771 (GRCm39) |
H1264Y |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,317,647 (GRCm39) |
S1228R |
probably benign |
Het |
| Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nutm2 |
A |
G |
13: 50,628,856 (GRCm39) |
H640R |
probably benign |
Het |
| Or11i1 |
T |
C |
3: 106,729,027 (GRCm39) |
I283V |
probably benign |
Het |
| Or2t1 |
T |
C |
14: 14,328,891 (GRCm38) |
V260A |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,214,084 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,945 (GRCm39) |
C140S |
probably damaging |
Het |
| Or5w1b |
G |
T |
2: 87,475,753 (GRCm39) |
A238E |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,334 (GRCm39) |
D18V |
probably damaging |
Het |
| Pde1c |
C |
T |
6: 56,157,175 (GRCm39) |
V162I |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,884,783 (GRCm39) |
G473E |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,398,007 (GRCm39) |
V795A |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,883,107 (GRCm39) |
D1757G |
possibly damaging |
Het |
| Popdc3 |
T |
C |
10: 45,190,951 (GRCm39) |
W21R |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rfc1 |
G |
T |
5: 65,445,372 (GRCm39) |
T412K |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,831,627 (GRCm39) |
S706P |
possibly damaging |
Het |
| Scgn |
T |
C |
13: 24,175,047 (GRCm39) |
|
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,527,225 (GRCm39) |
V357A |
probably damaging |
Het |
| Snrnp48 |
G |
T |
13: 38,393,862 (GRCm39) |
A56S |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,054,559 (GRCm39) |
A2178E |
probably benign |
Het |
| Syn2 |
C |
T |
6: 115,255,212 (GRCm39) |
T508I |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,654,658 (GRCm39) |
K1427E |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,739,854 (GRCm39) |
I1118V |
possibly damaging |
Het |
| Tslp |
A |
T |
18: 32,948,725 (GRCm39) |
I37L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,713 (GRCm39) |
D34091G |
possibly damaging |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,953,474 (GRCm39) |
F803L |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,882,514 (GRCm39) |
E325G |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,779 (GRCm39) |
W121R |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,413 (GRCm39) |
L227F |
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 |
|
IGL01677:Ttll3
|
APN |
6 |
113,389,945 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATAAAGGCTTCCTGGGTAGC -3'
(R):5'- TTGGCTTATGAATGGAAGACCC -3'
Sequencing Primer
(F):5'- CTTCCTGGGTAGCCTGGATG -3'
(R):5'- ACAAGGGGAGGCTTGCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation