Incidental Mutation 'R5698:Ttll8'
| ID |
450814 |
| 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: 0.240)
|
| Stock # |
R5698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88823209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 85
(S85T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
| AlphaFold |
A4Q9F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109371
AA Change: S85T
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: S85T
| 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 |
possibly damaging
Transcript: ENSMUST00000177180
AA Change: S85T
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388
AA Change: S85T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177254
AA Change: S79T
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
| Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,768,704 (GRCm39) |
L505F |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
| Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
| Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,530,875 (GRCm39) |
I220N |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,538 (GRCm39) |
S243P |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,194 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
| Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
| Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
| Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
| Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
| Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
| Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
| Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
| Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
possibly 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 |
|
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 |
|
R7978:Ttll8
|
UTSW |
15 |
88,799,565 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- TCCATATGGGAGGAAGTCATCC -3'
(R):5'- TAGAGAAAGGTTCAAGACTACCC -3'
Sequencing Primer
(F):5'- GAAGTCATCCAGTCAGGCC -3'
(R):5'- GGTTCAAGACTACCCAGTGCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation