Incidental Mutation 'R7978:Ttll8'
ID |
651045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll8
|
Ensembl Gene |
ENSMUSG00000022388 |
Gene Name |
tubulin tyrosine ligase-like family, member 8 |
Synonyms |
1700019P01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R7978 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 88799565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 625
(N625K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
AlphaFold |
A4Q9F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109371
AA Change: N625K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000104996 Gene: ENSMUSG00000022388 AA Change: N625K
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
Pfam:TTL
|
324 |
621 |
3.9e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177180
|
SMART Domains |
Protein: ENSMUSP00000135381 Gene: ENSMUSG00000022388
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177254
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,036,515 (GRCm39) |
I342N |
probably damaging |
Het |
Alb |
A |
T |
5: 90,619,932 (GRCm39) |
N453I |
possibly damaging |
Het |
Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
Ap1g1 |
C |
T |
8: 110,564,399 (GRCm39) |
R315* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,832,060 (GRCm39) |
Y741H |
probably damaging |
Het |
Cacna2d2 |
C |
G |
9: 107,395,456 (GRCm39) |
L661V |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,216,921 (GRCm39) |
H64Q |
probably damaging |
Het |
Ccdc93 |
C |
A |
1: 121,426,960 (GRCm39) |
N582K |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 109,921,835 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,342 (GRCm39) |
N78D |
probably damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,915,307 (GRCm39) |
V132A |
probably damaging |
Het |
Cwc25 |
G |
A |
11: 97,644,044 (GRCm39) |
Q230* |
probably null |
Het |
Dsel |
G |
A |
1: 111,787,449 (GRCm39) |
R1029* |
probably null |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Fam120a |
T |
C |
13: 49,055,750 (GRCm39) |
Y646C |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,146,968 (GRCm39) |
W576R |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,897,313 (GRCm39) |
E904G |
probably benign |
Het |
Igkv17-121 |
C |
T |
6: 68,013,806 (GRCm39) |
T2I |
unknown |
Het |
Ino80 |
T |
G |
2: 119,269,874 (GRCm39) |
R590S |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,652,069 (GRCm39) |
I842N |
probably damaging |
Het |
Itgae |
A |
T |
11: 73,024,913 (GRCm39) |
T1015S |
probably damaging |
Het |
Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
Kcna10 |
A |
G |
3: 107,101,663 (GRCm39) |
E98G |
probably damaging |
Het |
Kcnb2 |
T |
A |
1: 15,780,837 (GRCm39) |
Y570N |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,564,676 (GRCm39) |
I923V |
probably benign |
Het |
Kptn |
A |
G |
7: 15,859,697 (GRCm39) |
D307G |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,083,458 (GRCm39) |
Y704H |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,392 (GRCm39) |
F244L |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,014 (GRCm39) |
L29* |
probably null |
Het |
Or4c58 |
A |
T |
2: 89,674,611 (GRCm39) |
C235* |
probably null |
Het |
Or4f59 |
T |
C |
2: 111,872,523 (GRCm39) |
T285A |
possibly damaging |
Het |
Pmel |
G |
A |
10: 128,551,819 (GRCm39) |
V218M |
probably damaging |
Het |
Prkar2b |
T |
C |
12: 32,013,024 (GRCm39) |
H364R |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,294,867 (GRCm39) |
F809S |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,078,838 (GRCm39) |
S59P |
|
Het |
Rgr |
A |
G |
14: 36,766,645 (GRCm39) |
F134L |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,753 (GRCm39) |
R47L |
probably damaging |
Het |
Scd3 |
G |
T |
19: 44,222,688 (GRCm39) |
E113* |
probably null |
Het |
Slc22a12 |
G |
A |
19: 6,586,938 (GRCm39) |
A476V |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,792,878 (GRCm39) |
E560G |
unknown |
Het |
Snx3 |
A |
G |
10: 42,378,346 (GRCm39) |
D7G |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
A |
G |
19: 38,905,285 (GRCm39) |
M667V |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,142,104 (GRCm39) |
V81E |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,966,583 (GRCm39) |
I395F |
probably damaging |
Het |
Tes |
C |
A |
6: 17,096,322 (GRCm39) |
N103K |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,426 (GRCm39) |
Y336C |
possibly damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,726 (GRCm39) |
N491S |
probably damaging |
Het |
Tomt |
T |
C |
7: 101,549,554 (GRCm39) |
I245V |
probably damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,236 (GRCm39) |
L28P |
|
Het |
Trp63 |
T |
C |
16: 25,639,436 (GRCm39) |
V208A |
unknown |
Het |
Ush2a |
T |
A |
1: 188,132,135 (GRCm39) |
W786R |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,167,854 (GRCm39) |
I703F |
probably damaging |
Het |
|
Other mutations in Ttll8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00671:Ttll8
|
APN |
15 |
88,798,356 (GRCm39) |
missense |
probably benign |
|
IGL00895:Ttll8
|
APN |
15 |
88,817,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01061:Ttll8
|
APN |
15 |
88,801,453 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01661:Ttll8
|
APN |
15 |
88,820,202 (GRCm39) |
splice site |
probably benign |
|
IGL01992:Ttll8
|
APN |
15 |
88,799,848 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02212:Ttll8
|
APN |
15 |
88,801,450 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02234:Ttll8
|
APN |
15 |
88,798,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02569:Ttll8
|
APN |
15 |
88,818,129 (GRCm39) |
nonsense |
probably null |
|
IGL02935:Ttll8
|
APN |
15 |
88,798,759 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03064:Ttll8
|
APN |
15 |
88,803,797 (GRCm39) |
missense |
probably benign |
0.22 |
R0969:Ttll8
|
UTSW |
15 |
88,818,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R1637:Ttll8
|
UTSW |
15 |
88,798,647 (GRCm39) |
missense |
probably benign |
0.12 |
R1939:Ttll8
|
UTSW |
15 |
88,799,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Ttll8
|
UTSW |
15 |
88,798,654 (GRCm39) |
missense |
probably benign |
0.00 |
R2173:Ttll8
|
UTSW |
15 |
88,798,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Ttll8
|
UTSW |
15 |
88,818,156 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2414:Ttll8
|
UTSW |
15 |
88,820,336 (GRCm39) |
splice site |
probably benign |
|
R2905:Ttll8
|
UTSW |
15 |
88,798,680 (GRCm39) |
missense |
probably benign |
0.00 |
R4159:Ttll8
|
UTSW |
15 |
88,801,444 (GRCm39) |
missense |
probably benign |
0.00 |
R4368:Ttll8
|
UTSW |
15 |
88,798,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4395:Ttll8
|
UTSW |
15 |
88,799,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4707:Ttll8
|
UTSW |
15 |
88,801,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R4926:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
R4983:Ttll8
|
UTSW |
15 |
88,809,785 (GRCm39) |
missense |
probably benign |
0.08 |
R5698:Ttll8
|
UTSW |
15 |
88,823,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5752:Ttll8
|
UTSW |
15 |
88,816,931 (GRCm39) |
missense |
probably benign |
0.00 |
R5834:Ttll8
|
UTSW |
15 |
88,801,449 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5889:Ttll8
|
UTSW |
15 |
88,818,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R6528:Ttll8
|
UTSW |
15 |
88,798,441 (GRCm39) |
missense |
probably benign |
0.03 |
R6931:Ttll8
|
UTSW |
15 |
88,798,507 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7133:Ttll8
|
UTSW |
15 |
88,799,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R7268:Ttll8
|
UTSW |
15 |
88,819,159 (GRCm39) |
critical splice donor site |
probably null |
|
R7286:Ttll8
|
UTSW |
15 |
88,801,442 (GRCm39) |
missense |
probably benign |
0.01 |
R7502:Ttll8
|
UTSW |
15 |
88,817,639 (GRCm39) |
critical splice donor site |
probably null |
|
R7580:Ttll8
|
UTSW |
15 |
88,818,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R7734:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
R8074:Ttll8
|
UTSW |
15 |
88,799,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Ttll8
|
UTSW |
15 |
88,798,638 (GRCm39) |
missense |
probably benign |
0.06 |
R8407:Ttll8
|
UTSW |
15 |
88,798,741 (GRCm39) |
missense |
probably benign |
0.01 |
R8901:Ttll8
|
UTSW |
15 |
88,818,146 (GRCm39) |
missense |
probably benign |
0.00 |
R9199:Ttll8
|
UTSW |
15 |
88,798,818 (GRCm39) |
missense |
probably benign |
0.16 |
R9443:Ttll8
|
UTSW |
15 |
88,809,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0058:Ttll8
|
UTSW |
15 |
88,801,333 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACCACTTTGTCCAGACCGAAG -3'
(R):5'- CACCAATGCCATGAGGGTAG -3'
Sequencing Primer
(F):5'- AGGAACAGGATTTGTGTCTCCCAC -3'
(R):5'- GCCCGTAAGAACAGCTTCGAG -3'
|
Posted On |
2020-09-15 |