Incidental Mutation 'IGL01353:Ttll7'
| ID |
75431 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll7
|
| Ensembl Gene |
ENSMUSG00000036745 |
| Gene Name |
tubulin tyrosine ligase-like family, member 7 |
| Synonyms |
1110049N09Rik, 4921517B04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.519)
|
| Stock # |
IGL01353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146667474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 780
(L780P)
|
| 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 damaging
Transcript: ENSMUST00000037942
AA Change: L800P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106134
AA Change: L775P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: L775P
| 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 damaging
Transcript: ENSMUST00000170055
AA Change: L780P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: L780P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,637,088 (GRCm39) |
N413K |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
| Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
| Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
| Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
| Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
| Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
| Miga2 |
G |
A |
2: 30,261,245 (GRCm39) |
|
probably null |
Het |
| Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
| Otub2 |
A |
T |
12: 103,370,581 (GRCm39) |
M288L |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
| Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,581,426 (GRCm39) |
V271E |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
| Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
| Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,828,574 (GRCm39) |
H295L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation