Incidental Mutation 'R6256:Ttll13'
ID |
506114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll13
|
Ensembl Gene |
ENSMUSG00000045467 |
Gene Name |
tubulin tyrosine ligase-like family, member 13 |
Synonyms |
1700111A04Rik |
MMRRC Submission |
044373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R6256 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79896124-79910569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79908052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 556
(T556A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058266]
[ENSMUST00000117989]
[ENSMUST00000205270]
|
AlphaFold |
A4Q9F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058266
AA Change: T556A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000062795 Gene: ENSMUSG00000045467 AA Change: T556A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.4e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107381
|
SMART Domains |
Protein: ENSMUSP00000103004 Gene: ENSMUSG00000045467
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.5e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117989
|
SMART Domains |
Protein: ENSMUSP00000113444 Gene: ENSMUSG00000047084
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
46 |
70 |
N/A |
INTRINSIC |
Pfam:Neugrin
|
73 |
293 |
1.2e-99 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205270
AA Change: T525A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
Other mutations in Ttll13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Ttll13
|
APN |
7 |
79,909,297 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01289:Ttll13
|
APN |
7 |
79,910,187 (GRCm39) |
missense |
probably benign |
|
IGL02026:Ttll13
|
APN |
7 |
79,910,127 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02816:Ttll13
|
APN |
7 |
79,902,842 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0345:Ttll13
|
UTSW |
7 |
79,897,084 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Ttll13
|
UTSW |
7 |
79,910,253 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0491:Ttll13
|
UTSW |
7 |
79,910,098 (GRCm39) |
missense |
probably benign |
|
R1779:Ttll13
|
UTSW |
7 |
79,910,256 (GRCm39) |
missense |
probably benign |
0.33 |
R1983:Ttll13
|
UTSW |
7 |
79,903,364 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2218:Ttll13
|
UTSW |
7 |
79,902,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Ttll13
|
UTSW |
7 |
79,899,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R4496:Ttll13
|
UTSW |
7 |
79,906,667 (GRCm39) |
missense |
probably benign |
0.08 |
R4736:Ttll13
|
UTSW |
7 |
79,898,024 (GRCm39) |
splice site |
probably null |
|
R5330:Ttll13
|
UTSW |
7 |
79,910,257 (GRCm39) |
missense |
probably benign |
0.33 |
R5930:Ttll13
|
UTSW |
7 |
79,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Ttll13
|
UTSW |
7 |
79,904,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6060:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Ttll13
|
UTSW |
7 |
79,909,981 (GRCm39) |
missense |
probably benign |
0.18 |
R6501:Ttll13
|
UTSW |
7 |
79,899,924 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6901:Ttll13
|
UTSW |
7 |
79,899,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Ttll13
|
UTSW |
7 |
79,906,778 (GRCm39) |
missense |
probably null |
0.53 |
R7127:Ttll13
|
UTSW |
7 |
79,903,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7217:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Ttll13
|
UTSW |
7 |
79,906,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7453:Ttll13
|
UTSW |
7 |
79,910,182 (GRCm39) |
missense |
probably benign |
|
R7579:Ttll13
|
UTSW |
7 |
79,907,981 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Ttll13
|
UTSW |
7 |
79,902,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Ttll13
|
UTSW |
7 |
79,903,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Ttll13
|
UTSW |
7 |
79,905,135 (GRCm39) |
missense |
probably benign |
0.02 |
R8122:Ttll13
|
UTSW |
7 |
79,909,217 (GRCm39) |
missense |
probably benign |
0.16 |
R8739:Ttll13
|
UTSW |
7 |
79,902,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R9124:Ttll13
|
UTSW |
7 |
79,906,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R9154:Ttll13
|
UTSW |
7 |
79,897,182 (GRCm39) |
missense |
probably benign |
|
R9157:Ttll13
|
UTSW |
7 |
79,904,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9572:Ttll13
|
UTSW |
7 |
79,908,008 (GRCm39) |
missense |
probably benign |
0.09 |
Z1189:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTCCAGCAACACCAGGTG -3'
(R):5'- CTTCTGTTCCAAAAGGTCAGATCC -3'
Sequencing Primer
(F):5'- ACACCAGGTGTTCCTTTCATTAG -3'
(R):5'- GTTCCAAAAGGTCAGATCCAATTTAC -3'
|
Posted On |
2018-02-28 |