Incidental Mutation 'R6009:Ttll7'
ID |
479636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll7
|
Ensembl Gene |
ENSMUSG00000036745 |
Gene Name |
tubulin tyrosine ligase-like family, member 7 |
Synonyms |
1110049N09Rik, 4921517B04Rik |
MMRRC Submission |
044186-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.519)
|
Stock # |
R6009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 146640290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 503
(D503V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043753
(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: D503V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
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 damaging
Transcript: ENSMUST00000106134
AA Change: D503V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101740 Gene: ENSMUSG00000036745 AA Change: D503V
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: D503V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129369 Gene: ENSMUSG00000036745 AA Change: D503V
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 |
|
Meta Mutation Damage Score |
0.1454 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
possibly 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAAGTTTCCTGAAGCCTTTGCC -3'
(R):5'- TCTAGAGTGTGAGGCAACGC -3'
Sequencing Primer
(F):5'- CCTGAAGCCTTTGCCTTTAATG -3'
(R):5'- GGTTTTGCCTTCACTGAACACAAAG -3'
|
Posted On |
2017-06-26 |