Incidental Mutation 'R5115:Ttll9'
| ID |
394141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
042703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5115 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 152831510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099197
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103155
|
| SMART Domains |
Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
67 |
397 |
5.3e-88 |
PFAM |
|
low complexity region
|
452 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109801
|
| SMART Domains |
Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
68 |
222 |
4.8e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
| Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
| Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
| Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
| Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
| Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
| Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
| Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
| Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
| Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttll9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Ttll9
|
APN |
2 |
152,826,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01107:Ttll9
|
APN |
2 |
152,844,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL01365:Ttll9
|
APN |
2 |
152,842,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01751:Ttll9
|
APN |
2 |
152,825,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02264:Ttll9
|
APN |
2 |
152,842,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Ttll9
|
APN |
2 |
152,842,117 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02899:Ttll9
|
APN |
2 |
152,844,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
BB011:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
I2288:Ttll9
|
UTSW |
2 |
152,814,259 (GRCm39) |
splice site |
probably benign |
|
|
R0053:Ttll9
|
UTSW |
2 |
152,804,426 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0116:Ttll9
|
UTSW |
2 |
152,825,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0319:Ttll9
|
UTSW |
2 |
152,842,018 (GRCm39) |
splice site |
probably null |
|
|
R0388:Ttll9
|
UTSW |
2 |
152,842,099 (GRCm39) |
missense |
probably benign |
|
|
R0556:Ttll9
|
UTSW |
2 |
152,815,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0689:Ttll9
|
UTSW |
2 |
152,825,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1829:Ttll9
|
UTSW |
2 |
152,842,156 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2016:Ttll9
|
UTSW |
2 |
152,844,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Ttll9
|
UTSW |
2 |
152,844,927 (GRCm39) |
missense |
probably benign |
|
|
R2229:Ttll9
|
UTSW |
2 |
152,824,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2309:Ttll9
|
UTSW |
2 |
152,826,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Ttll9
|
UTSW |
2 |
152,825,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4191:Ttll9
|
UTSW |
2 |
152,844,927 (GRCm39) |
missense |
probably benign |
|
|
R4539:Ttll9
|
UTSW |
2 |
152,836,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Ttll9
|
UTSW |
2 |
152,844,920 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5279:Ttll9
|
UTSW |
2 |
152,804,464 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5342:Ttll9
|
UTSW |
2 |
152,833,572 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5375:Ttll9
|
UTSW |
2 |
152,826,144 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5417:Ttll9
|
UTSW |
2 |
152,844,912 (GRCm39) |
missense |
probably benign |
|
|
R5555:Ttll9
|
UTSW |
2 |
152,832,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5574:Ttll9
|
UTSW |
2 |
152,826,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5598:Ttll9
|
UTSW |
2 |
152,826,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Ttll9
|
UTSW |
2 |
152,815,521 (GRCm39) |
frame shift |
probably null |
|
|
R6366:Ttll9
|
UTSW |
2 |
152,833,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Ttll9
|
UTSW |
2 |
152,841,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6655:Ttll9
|
UTSW |
2 |
152,842,223 (GRCm39) |
splice site |
probably null |
|
|
R6657:Ttll9
|
UTSW |
2 |
152,826,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Ttll9
|
UTSW |
2 |
152,841,220 (GRCm39) |
nonsense |
probably null |
|
|
R7012:Ttll9
|
UTSW |
2 |
152,844,982 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7162:Ttll9
|
UTSW |
2 |
152,831,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7804:Ttll9
|
UTSW |
2 |
152,844,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7862:Ttll9
|
UTSW |
2 |
152,848,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7924:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
R7998:Ttll9
|
UTSW |
2 |
152,833,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8041:Ttll9
|
UTSW |
2 |
152,844,956 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8367:Ttll9
|
UTSW |
2 |
152,836,068 (GRCm39) |
missense |
probably benign |
|
|
R8897:Ttll9
|
UTSW |
2 |
152,844,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9061:Ttll9
|
UTSW |
2 |
152,818,113 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9667:Ttll9
|
UTSW |
2 |
152,831,989 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Ttll9
|
UTSW |
2 |
152,818,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Ttll9
|
UTSW |
2 |
152,836,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATCACCCATGGCAAGG -3'
(R):5'- AGGATTTGAACCCAGACCTG -3'
Sequencing Primer
(F):5'- TGATTCCAGTATTAGCCGATGC -3'
(R):5'- AGACCTGGCACTCTTGTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation