Incidental Mutation 'R2986:Ttll11'
ID |
257796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll11
|
Ensembl Gene |
ENSMUSG00000026885 |
Gene Name |
tubulin tyrosine ligase-like family, member 11 |
Synonyms |
4932702F08Rik, 4933424A20Rik, D2Ertd624e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2986 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35707750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 519
(S519L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000161970]
|
AlphaFold |
A4Q9F4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028248
AA Change: S519L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000028248 Gene: ENSMUSG00000026885 AA Change: S519L
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
Pfam:TTL
|
170 |
477 |
9.1e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112976
|
SMART Domains |
Protein: ENSMUSP00000108600 Gene: ENSMUSG00000026885
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
Pfam:TTL
|
170 |
477 |
5.9e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139455
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160906
|
SMART Domains |
Protein: ENSMUSP00000125511 Gene: ENSMUSG00000026885
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
1 |
304 |
4.2e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161970
|
SMART Domains |
Protein: ENSMUSP00000125627 Gene: ENSMUSG00000026885
Domain | Start | End | E-Value | Type |
SCOP:d1gosa1
|
33 |
88 |
5e-3 |
SMART |
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
T |
A |
17: 47,777,697 (GRCm39) |
C474* |
probably null |
Het |
Arhgap18 |
A |
G |
10: 26,730,903 (GRCm39) |
T122A |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Bbs4 |
A |
G |
9: 59,248,478 (GRCm39) |
L75P |
probably damaging |
Het |
Bltp3b |
T |
A |
10: 89,641,931 (GRCm39) |
V1034E |
probably benign |
Het |
Cenpl |
C |
T |
1: 160,911,037 (GRCm39) |
|
probably benign |
Het |
Cnnm4 |
G |
A |
1: 36,511,453 (GRCm39) |
R227H |
possibly damaging |
Het |
Dipk2a |
C |
A |
9: 94,402,570 (GRCm39) |
C364F |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,677,690 (GRCm39) |
E141G |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,903,424 (GRCm39) |
C3024R |
probably damaging |
Het |
Gss |
T |
C |
2: 155,429,363 (GRCm39) |
D43G |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,251,010 (GRCm39) |
D824V |
probably damaging |
Het |
Slc15a1 |
C |
T |
14: 121,727,221 (GRCm39) |
D116N |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,551,142 (GRCm39) |
D190G |
probably benign |
Het |
Wdr49 |
T |
C |
3: 75,289,347 (GRCm39) |
M184V |
probably benign |
Het |
Zfp384 |
T |
A |
6: 125,001,859 (GRCm39) |
V113E |
possibly damaging |
Het |
|
Other mutations in Ttll11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Ttll11
|
APN |
2 |
35,792,732 (GRCm39) |
nonsense |
probably null |
|
IGL01148:Ttll11
|
APN |
2 |
35,674,205 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02933:Ttll11
|
APN |
2 |
35,869,422 (GRCm39) |
missense |
probably benign |
|
e-suppressor
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Ttll11
|
UTSW |
2 |
35,792,688 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0494:Ttll11
|
UTSW |
2 |
35,834,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1494:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Ttll11
|
UTSW |
2 |
35,779,337 (GRCm39) |
missense |
probably damaging |
0.96 |
R1688:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Ttll11
|
UTSW |
2 |
35,830,765 (GRCm39) |
missense |
probably null |
|
R2414:Ttll11
|
UTSW |
2 |
35,869,546 (GRCm39) |
missense |
unknown |
|
R4295:Ttll11
|
UTSW |
2 |
35,869,564 (GRCm39) |
small deletion |
probably benign |
|
R4346:Ttll11
|
UTSW |
2 |
35,674,130 (GRCm39) |
missense |
probably benign |
0.22 |
R5234:Ttll11
|
UTSW |
2 |
35,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5340:Ttll11
|
UTSW |
2 |
35,792,801 (GRCm39) |
missense |
probably damaging |
0.99 |
R5442:Ttll11
|
UTSW |
2 |
35,793,135 (GRCm39) |
makesense |
probably null |
|
R5482:Ttll11
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R5604:Ttll11
|
UTSW |
2 |
35,707,798 (GRCm39) |
missense |
probably benign |
0.07 |
R6219:Ttll11
|
UTSW |
2 |
35,642,511 (GRCm39) |
splice site |
probably null |
|
R6481:Ttll11
|
UTSW |
2 |
35,792,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Ttll11
|
UTSW |
2 |
35,780,460 (GRCm39) |
splice site |
probably null |
|
R6944:Ttll11
|
UTSW |
2 |
35,642,306 (GRCm39) |
missense |
probably benign |
0.05 |
R7224:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R7511:Ttll11
|
UTSW |
2 |
35,793,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R8052:Ttll11
|
UTSW |
2 |
35,869,527 (GRCm39) |
missense |
unknown |
|
R8200:Ttll11
|
UTSW |
2 |
35,834,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R8332:Ttll11
|
UTSW |
2 |
35,830,721 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8691:Ttll11
|
UTSW |
2 |
35,674,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8801:Ttll11
|
UTSW |
2 |
35,792,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R8993:Ttll11
|
UTSW |
2 |
35,707,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9054:Ttll11
|
UTSW |
2 |
35,869,392 (GRCm39) |
missense |
probably benign |
0.23 |
X0026:Ttll11
|
UTSW |
2 |
35,685,364 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAAGCCTGAGGATCCACAGTC -3'
(R):5'- ATGGATGTCCTCTGAGCCAC -3'
Sequencing Primer
(F):5'- ATAGTCTTGATACGTAGCCCAGGC -3'
(R):5'- TCTGAGCCACTCCACAGG -3'
|
Posted On |
2015-01-11 |