Incidental Mutation 'R1125:Ttll10'
ID |
96039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll10
|
Ensembl Gene |
ENSMUSG00000029074 |
Gene Name |
tubulin tyrosine ligase-like family, member 10 |
Synonyms |
4833412E22Rik, 4930595O22Rik, Ttll5 |
MMRRC Submission |
039198-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1125 (G1)
|
Quality Score |
165 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
156119292-156135274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156119495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 664
(S664P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051509]
[ENSMUST00000184348]
[ENSMUST00000184684]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051509
AA Change: S635P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000055671 Gene: ENSMUSG00000029074 AA Change: S635P
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
Pfam:TTL
|
189 |
507 |
1.8e-48 |
PFAM |
low complexity region
|
541 |
583 |
N/A |
INTRINSIC |
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
low complexity region
|
622 |
638 |
N/A |
INTRINSIC |
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151836
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184348
AA Change: S664P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139316 Gene: ENSMUSG00000029074 AA Change: S664P
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
Pfam:TTL
|
218 |
536 |
7.9e-48 |
PFAM |
low complexity region
|
570 |
612 |
N/A |
INTRINSIC |
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
low complexity region
|
681 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184684
|
SMART Domains |
Protein: ENSMUSP00000139077 Gene: ENSMUSG00000029074
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
Pfam:TTL
|
100 |
418 |
2.5e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184750
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably damaging |
Het |
|
Other mutations in Ttll10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01629:Ttll10
|
APN |
4 |
156,131,351 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02109:Ttll10
|
APN |
4 |
156,131,937 (GRCm39) |
missense |
probably benign |
|
IGL02121:Ttll10
|
APN |
4 |
156,132,890 (GRCm39) |
missense |
probably benign |
0.04 |
F6893:Ttll10
|
UTSW |
4 |
156,132,775 (GRCm39) |
missense |
probably benign |
0.00 |
R0366:Ttll10
|
UTSW |
4 |
156,119,612 (GRCm39) |
missense |
probably damaging |
0.97 |
R0502:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
R0503:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
R0523:Ttll10
|
UTSW |
4 |
156,129,818 (GRCm39) |
nonsense |
probably null |
|
R0865:Ttll10
|
UTSW |
4 |
156,128,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0907:Ttll10
|
UTSW |
4 |
156,120,621 (GRCm39) |
nonsense |
probably null |
|
R1555:Ttll10
|
UTSW |
4 |
156,119,596 (GRCm39) |
missense |
probably benign |
0.00 |
R1797:Ttll10
|
UTSW |
4 |
156,132,024 (GRCm39) |
missense |
probably damaging |
0.96 |
R3899:Ttll10
|
UTSW |
4 |
156,120,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Ttll10
|
UTSW |
4 |
156,133,018 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5715:Ttll10
|
UTSW |
4 |
156,129,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5762:Ttll10
|
UTSW |
4 |
156,119,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5814:Ttll10
|
UTSW |
4 |
156,132,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5958:Ttll10
|
UTSW |
4 |
156,120,523 (GRCm39) |
splice site |
probably null |
|
R5994:Ttll10
|
UTSW |
4 |
156,133,189 (GRCm39) |
splice site |
probably null |
|
R6084:Ttll10
|
UTSW |
4 |
156,129,814 (GRCm39) |
missense |
probably benign |
0.34 |
R7027:Ttll10
|
UTSW |
4 |
156,120,258 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7719:Ttll10
|
UTSW |
4 |
156,131,665 (GRCm39) |
splice site |
probably null |
|
R8010:Ttll10
|
UTSW |
4 |
156,131,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8118:Ttll10
|
UTSW |
4 |
156,129,219 (GRCm39) |
missense |
probably benign |
0.05 |
R8167:Ttll10
|
UTSW |
4 |
156,129,213 (GRCm39) |
missense |
probably null |
0.01 |
R8213:Ttll10
|
UTSW |
4 |
156,120,691 (GRCm39) |
missense |
probably benign |
0.15 |
R8835:Ttll10
|
UTSW |
4 |
156,133,055 (GRCm39) |
missense |
probably benign |
0.00 |
R9487:Ttll10
|
UTSW |
4 |
156,127,616 (GRCm39) |
missense |
probably benign |
0.00 |
R9639:Ttll10
|
UTSW |
4 |
156,119,503 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Ttll10
|
UTSW |
4 |
156,132,974 (GRCm39) |
missense |
probably benign |
|
Z1177:Ttll10
|
UTSW |
4 |
156,131,895 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTATAGGTCCCGGAGAGGGCAC -3'
(R):5'- AAGATGCTGCCTCTGCTGTCAC -3'
Sequencing Primer
(F):5'- CACAGCAAGGTGCAGGG -3'
(R):5'- cctaaccctcaccctaaccc -3'
|
Posted On |
2014-01-05 |