Incidental Mutation 'IGL01060:Ttll7'
| ID |
50675 |
| 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 # |
IGL01060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146615337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 267
(D267G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037942]
[ENSMUST00000106134]
[ENSMUST00000170055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037942
AA Change: D267G
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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: D267G
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: D267G
| 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: D267G
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: D267G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
| Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
| Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
| Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
| Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
| Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
| Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
Het |
|
| Other mutations in Ttll7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation