Incidental Mutation 'R7804:Ttll9'
| ID |
600656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
045859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 152844278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
probably null
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 null
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 |
probably benign
Transcript: ENSMUST00000146626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (55/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
| Cacnb2 |
C |
A |
2: 14,972,848 (GRCm39) |
P252T |
probably benign |
Het |
| Ctnna2 |
C |
T |
6: 77,618,357 (GRCm39) |
V202I |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
| Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
| Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
| Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
| Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
| Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
| Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
| Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
| Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
| Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
| Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
| Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,962,308 (GRCm39) |
R60S |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
| Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
| Tbc1d9 |
T |
C |
8: 83,963,341 (GRCm39) |
L351P |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
| Tia1 |
T |
C |
6: 86,401,364 (GRCm39) |
S146P |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
| Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
probably damaging |
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 |
|
R5115:Ttll9
|
UTSW |
2 |
152,831,510 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- CCTCTTAGCAGAAGGTAGACGG -3'
(R):5'- AGCAGCCTCTTAGTGAATGTTG -3'
Sequencing Primer
(F):5'- TAGACGGGATCCCTGACAG -3'
(R):5'- ATGTTGTAAGCCAGGCACTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation