Incidental Mutation 'R8901:Ttll8'
| ID |
700870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll8
|
| Ensembl Gene |
ENSMUSG00000022388 |
| Gene Name |
tubulin tyrosine ligase-like family, member 8 |
| Synonyms |
1700019P01Rik |
| MMRRC Submission |
068758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R8901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88818146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 175
(D175N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
| AlphaFold |
A4Q9F1 |
| Predicted Effect |
silent
Transcript: ENSMUST00000109371
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
| 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
AA Change: D175N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388
AA Change: D175N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprm |
T |
C |
11: 66,932,564 (GRCm39) |
N115S |
probably damaging |
Het |
| Agbl5 |
T |
C |
5: 31,048,435 (GRCm39) |
V169A |
possibly damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,830 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
G |
A |
7: 35,332,243 (GRCm39) |
|
probably benign |
Het |
| Brat1 |
T |
A |
5: 140,698,608 (GRCm39) |
M260K |
probably benign |
Het |
| Btbd6 |
G |
T |
12: 112,940,220 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,394,248 (GRCm39) |
G503S |
probably benign |
Het |
| Ces1e |
C |
T |
8: 93,937,103 (GRCm39) |
D323N |
probably damaging |
Het |
| Chrna5 |
T |
C |
9: 54,911,737 (GRCm39) |
F75S |
probably damaging |
Het |
| Clmn |
A |
T |
12: 104,747,211 (GRCm39) |
S779T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,637,156 (GRCm39) |
M1011K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,262,254 (GRCm39) |
I164F |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,183,643 (GRCm39) |
K231T |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,365,715 (GRCm39) |
M2637R |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Eea1 |
T |
G |
10: 95,825,431 (GRCm39) |
I42R |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,932,805 (GRCm39) |
I207N |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,701,851 (GRCm39) |
T320A |
probably benign |
Het |
| Fhdc1 |
T |
A |
3: 84,352,874 (GRCm39) |
M784L |
probably benign |
Het |
| Gm21411 |
G |
A |
4: 146,982,171 (GRCm39) |
Q10* |
probably null |
Het |
| Gnao1 |
T |
C |
8: 94,694,687 (GRCm39) |
M70T |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,324,389 (GRCm39) |
F25S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,498,252 (GRCm39) |
D220E |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,801,809 (GRCm39) |
L339R |
probably damaging |
Het |
| Impg2 |
A |
T |
16: 56,072,528 (GRCm39) |
D320V |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,351,630 (GRCm39) |
L565Q |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,457,561 (GRCm39) |
Q67L |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,043 (GRCm39) |
F99S |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,063,030 (GRCm39) |
L214Q |
probably damaging |
Het |
| Lix1l |
C |
A |
3: 96,508,745 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
C |
T |
1: 162,373,814 (GRCm39) |
V95I |
possibly damaging |
Het |
| Nod2 |
C |
T |
8: 89,390,437 (GRCm39) |
T226M |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,685 (GRCm39) |
W1090R |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,035 (GRCm39) |
D19V |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,332,400 (GRCm39) |
V481F |
|
Het |
| Polr1b |
T |
A |
2: 128,967,595 (GRCm39) |
V996E |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,991,141 (GRCm39) |
R1027W |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,343,677 (GRCm39) |
I326F |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,305 (GRCm39) |
D298G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Scn3a |
C |
T |
2: 65,352,252 (GRCm39) |
V353M |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,299,114 (GRCm39) |
|
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,646,799 (GRCm39) |
V19A |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,624,939 (GRCm39) |
S29P |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,737,975 (GRCm39) |
F508L |
possibly damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,948,028 (GRCm39) |
R291L |
probably damaging |
Het |
| Tas2r114 |
T |
A |
6: 131,666,914 (GRCm39) |
N38I |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,557,184 (GRCm39) |
N948K |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,411,993 (GRCm39) |
|
probably benign |
Het |
| Txk |
T |
A |
5: 72,858,050 (GRCm39) |
Y398F |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,980,013 (GRCm39) |
T246K |
probably damaging |
Het |
| Wdr43 |
A |
T |
17: 71,932,461 (GRCm39) |
R113S |
probably benign |
Het |
| Ybx1 |
T |
C |
4: 119,138,785 (GRCm39) |
Y239C |
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 |
|
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 |
|
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'- CATCCATGGCACTGAGAGTACC -3'
(R):5'- TCCTCATACCACCACGTGTG -3'
Sequencing Primer
(F):5'- AGAAGCCTGTATGTGACCTTC -3'
(R):5'- TGGCCCTCAGGAGCCATG -3'
|
| Posted On |
2022-02-16 |
Incidental Mutation