Incidental Mutation 'I2288:Ttll9'
ID |
7908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll9
|
Ensembl Gene |
ENSMUSG00000074673 |
Gene Name |
tubulin tyrosine ligase-like family, member 9 |
Synonyms |
4930509O20Rik, 1700016F23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
I2288 (G3)
of strain
633
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 152814259 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]
[ENSMUST00000155631]
[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 |
probably benign
Transcript: ENSMUST00000146626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152158
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155631
|
SMART Domains |
Protein: ENSMUSP00000114786 Gene: ENSMUSG00000074673
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
Coding Region Coverage |
|
Validation Efficiency |
71% (138/195) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
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 |
|
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 |
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 |
|
Posted On |
2012-11-13 |