Incidental Mutation 'R6036:Ttll7'
ID |
479199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll7
|
Ensembl Gene |
ENSMUSG00000036745 |
Gene Name |
tubulin tyrosine ligase-like family, member 7 |
Synonyms |
1110049N09Rik, 4921517B04Rik |
MMRRC Submission |
043257-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.519)
|
Stock # |
R6036 (G1)
|
Quality Score |
224.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146645917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 592
(I592V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037942]
[ENSMUST00000106134]
[ENSMUST00000170055]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037942
AA Change: I592V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000038090
|
SMART Domains |
Protein: ENSMUSP00000037875 Gene: ENSMUSG00000036745
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:TTL
|
84 |
388 |
9e-80 |
PFAM |
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
low complexity region
|
591 |
601 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106134
AA Change: I592V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101740 Gene: ENSMUSG00000036745 AA Change: I592V
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:TTL
|
84 |
388 |
7.2e-80 |
PFAM |
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170055
AA Change: I592V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129369 Gene: ENSMUSG00000036745 AA Change: I592V
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:TTL
|
84 |
388 |
5.9e-80 |
PFAM |
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197547
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3 |
T |
C |
11: 95,723,684 (GRCm39) |
|
probably benign |
Het |
Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,743,005 (GRCm39) |
V941M |
probably benign |
Het |
Ano4 |
A |
G |
10: 88,818,127 (GRCm39) |
W588R |
possibly damaging |
Het |
Atp6v1a |
A |
G |
16: 43,919,194 (GRCm39) |
Y464H |
probably benign |
Het |
Barx2 |
A |
T |
9: 31,824,304 (GRCm39) |
D28E |
probably damaging |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Col10a1 |
A |
G |
10: 34,271,278 (GRCm39) |
T417A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Eif4enif1 |
T |
C |
11: 3,189,420 (GRCm39) |
S227P |
probably damaging |
Het |
Erv3 |
G |
A |
2: 131,697,925 (GRCm39) |
H145Y |
possibly damaging |
Het |
Exoc5 |
T |
C |
14: 49,251,779 (GRCm39) |
T591A |
possibly damaging |
Het |
F5 |
A |
T |
1: 164,012,565 (GRCm39) |
E493V |
probably damaging |
Het |
Gm8444 |
G |
T |
15: 81,727,794 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
A |
9: 4,537,646 (GRCm39) |
I221L |
probably benign |
Het |
H2bc13 |
A |
T |
13: 21,900,148 (GRCm39) |
S56T |
probably damaging |
Het |
Hc |
T |
C |
2: 34,929,696 (GRCm39) |
T249A |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,717,801 (GRCm39) |
T48A |
probably benign |
Het |
Hp |
A |
G |
8: 110,303,406 (GRCm39) |
|
probably null |
Het |
Ifna15 |
T |
G |
4: 88,476,310 (GRCm39) |
D58A |
possibly damaging |
Het |
Kcnj1 |
A |
T |
9: 32,308,421 (GRCm39) |
M262L |
probably benign |
Het |
Krt87 |
A |
C |
15: 101,385,412 (GRCm39) |
I320S |
possibly damaging |
Het |
Megf10 |
A |
G |
18: 57,375,799 (GRCm39) |
N242D |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,157,895 (GRCm39) |
T451A |
probably benign |
Het |
Or2ag2b |
A |
T |
7: 106,417,667 (GRCm39) |
I126F |
probably damaging |
Het |
Or4g7 |
T |
C |
2: 111,309,333 (GRCm39) |
L68P |
probably damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,957 (GRCm39) |
G252R |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
Or8d23 |
A |
G |
9: 38,842,216 (GRCm39) |
I250V |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,293,641 (GRCm39) |
P403S |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,248,019 (GRCm39) |
Q494* |
probably null |
Het |
Plag1 |
T |
C |
4: 3,904,618 (GRCm39) |
E191G |
possibly damaging |
Het |
Pou4f2 |
A |
T |
8: 79,162,103 (GRCm39) |
S167T |
probably damaging |
Het |
Scd4 |
G |
A |
19: 44,333,231 (GRCm39) |
D319N |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,847,308 (GRCm39) |
R279* |
probably null |
Het |
Sh3rf3 |
G |
A |
10: 58,649,806 (GRCm39) |
G137D |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,434 (GRCm39) |
P261S |
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,821,436 (GRCm39) |
D151V |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,556,301 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
T |
2: 120,530,556 (GRCm39) |
A2271V |
probably benign |
Het |
Stat6 |
A |
G |
10: 127,491,313 (GRCm39) |
N485D |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,822,606 (GRCm39) |
T280A |
possibly damaging |
Het |
Ttc23 |
A |
G |
7: 67,361,114 (GRCm39) |
I378V |
possibly damaging |
Het |
Ttc29 |
A |
G |
8: 79,052,205 (GRCm39) |
D362G |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,172 (GRCm39) |
H107L |
probably benign |
Het |
Vmn1r70 |
A |
G |
7: 10,367,830 (GRCm39) |
Q87R |
probably damaging |
Het |
Wdfy4 |
G |
T |
14: 32,868,947 (GRCm39) |
S360R |
probably damaging |
Het |
Zfp780b |
A |
G |
7: 27,662,993 (GRCm39) |
Y521H |
probably damaging |
Het |
|
Other mutations in Ttll7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01060:Ttll7
|
APN |
3 |
146,615,337 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01353:Ttll7
|
APN |
3 |
146,667,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01415:Ttll7
|
APN |
3 |
146,615,354 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01843:Ttll7
|
APN |
3 |
146,645,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03101:Ttll7
|
APN |
3 |
146,602,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03378:Ttll7
|
APN |
3 |
146,615,408 (GRCm39) |
missense |
probably benign |
0.06 |
P0038:Ttll7
|
UTSW |
3 |
146,650,939 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0265:Ttll7
|
UTSW |
3 |
146,649,915 (GRCm39) |
nonsense |
probably null |
|
R0358:Ttll7
|
UTSW |
3 |
146,649,871 (GRCm39) |
missense |
probably benign |
|
R0363:Ttll7
|
UTSW |
3 |
146,649,970 (GRCm39) |
missense |
probably benign |
0.00 |
R0364:Ttll7
|
UTSW |
3 |
146,650,936 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0751:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1533:Ttll7
|
UTSW |
3 |
146,602,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Ttll7
|
UTSW |
3 |
146,600,160 (GRCm39) |
missense |
probably benign |
0.02 |
R1789:Ttll7
|
UTSW |
3 |
146,621,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Ttll7
|
UTSW |
3 |
146,621,550 (GRCm39) |
splice site |
probably benign |
|
R1995:Ttll7
|
UTSW |
3 |
146,667,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2083:Ttll7
|
UTSW |
3 |
146,635,859 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2152:Ttll7
|
UTSW |
3 |
146,635,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R2655:Ttll7
|
UTSW |
3 |
146,653,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R2926:Ttll7
|
UTSW |
3 |
146,636,170 (GRCm39) |
nonsense |
probably null |
|
R4888:Ttll7
|
UTSW |
3 |
146,599,932 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R4999:Ttll7
|
UTSW |
3 |
146,600,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5648:Ttll7
|
UTSW |
3 |
146,667,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5937:Ttll7
|
UTSW |
3 |
146,649,847 (GRCm39) |
nonsense |
probably null |
|
R6009:Ttll7
|
UTSW |
3 |
146,640,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R6036:Ttll7
|
UTSW |
3 |
146,645,917 (GRCm39) |
missense |
probably benign |
|
R6463:Ttll7
|
UTSW |
3 |
146,637,337 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6747:Ttll7
|
UTSW |
3 |
146,649,811 (GRCm39) |
missense |
probably benign |
0.02 |
R6922:Ttll7
|
UTSW |
3 |
146,615,369 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7123:Ttll7
|
UTSW |
3 |
146,619,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7211:Ttll7
|
UTSW |
3 |
146,619,031 (GRCm39) |
missense |
probably damaging |
0.97 |
R8229:Ttll7
|
UTSW |
3 |
146,607,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R8406:Ttll7
|
UTSW |
3 |
146,645,779 (GRCm39) |
missense |
probably benign |
|
R9343:Ttll7
|
UTSW |
3 |
146,667,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R9348:Ttll7
|
UTSW |
3 |
146,673,768 (GRCm39) |
missense |
probably benign |
0.31 |
R9629:Ttll7
|
UTSW |
3 |
146,621,487 (GRCm39) |
missense |
probably damaging |
1.00 |
RF015:Ttll7
|
UTSW |
3 |
146,685,413 (GRCm39) |
missense |
probably benign |
0.00 |
X0024:Ttll7
|
UTSW |
3 |
146,615,308 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Ttll7
|
UTSW |
3 |
146,667,450 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Ttll7
|
UTSW |
3 |
146,653,408 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ttll7
|
UTSW |
3 |
146,653,390 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ttll7
|
UTSW |
3 |
146,635,933 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ttll7
|
UTSW |
3 |
146,621,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |