Incidental Mutation 'R9061:Ttll9'
| ID |
723605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
068887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R9061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152818113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 20
(H20Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000155631]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
silent
Transcript: ENSMUST00000099197
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
silent
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 |
silent
Transcript: ENSMUST00000109801
|
| SMART Domains |
Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
68 |
222 |
4.8e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146626
AA Change: H20Y
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000152158
|
| Predicted Effect |
silent
Transcript: ENSMUST00000155631
|
| SMART Domains |
Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000165343
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,133 (GRCm39) |
M1T |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,227,847 (GRCm39) |
E630G |
probably benign |
Het |
| Abcf2 |
T |
A |
5: 24,778,504 (GRCm39) |
H218L |
possibly damaging |
Het |
| Abo |
A |
T |
2: 26,733,395 (GRCm39) |
M268K |
probably benign |
Het |
| Ankrd33 |
G |
T |
15: 101,014,029 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
C |
18: 34,446,251 (GRCm39) |
R1049T |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,941,338 (GRCm39) |
K412E |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,809,202 (GRCm39) |
|
probably null |
Het |
| Ccdc152 |
T |
G |
15: 3,330,643 (GRCm39) |
K11Q |
probably damaging |
Het |
| Ccdc38 |
T |
A |
10: 93,401,735 (GRCm39) |
W232R |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,551,192 (GRCm39) |
P347L |
possibly damaging |
Het |
| Cntn3 |
A |
G |
6: 102,314,288 (GRCm39) |
L142P |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,806,884 (GRCm39) |
M601K |
probably damaging |
Het |
| D930048N14Rik |
G |
A |
11: 51,545,734 (GRCm39) |
D209N |
unknown |
Het |
| Dcaf6 |
A |
T |
1: 165,164,332 (GRCm39) |
N814K |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,632,406 (GRCm39) |
D455V |
possibly damaging |
Het |
| Fcna |
A |
C |
2: 25,514,956 (GRCm39) |
L301W |
possibly damaging |
Het |
| Garin1b |
C |
T |
6: 29,323,902 (GRCm39) |
T209I |
probably benign |
Het |
| Gdf9 |
T |
G |
11: 53,324,269 (GRCm39) |
C13G |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,933,858 (GRCm39) |
N226K |
probably damaging |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,564,153 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kirrel2 |
T |
C |
7: 30,150,305 (GRCm39) |
I508V |
probably benign |
Het |
| Klhl38 |
T |
A |
15: 58,186,022 (GRCm39) |
I236F |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,126,870 (GRCm39) |
C425* |
probably null |
Het |
| Letm1 |
A |
G |
5: 33,918,213 (GRCm39) |
F311L |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,422,173 (GRCm39) |
I192N |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,342,016 (GRCm39) |
V409A |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,391,501 (GRCm39) |
C318Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,692 (GRCm39) |
Y1141C |
|
Het |
| Ndufv2 |
T |
A |
17: 66,390,475 (GRCm39) |
D165V |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,123 (GRCm39) |
K303E |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,196,808 (GRCm39) |
|
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,897 (GRCm39) |
Q100R |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,141 (GRCm39) |
H56L |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,523 (GRCm39) |
N21S |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,546,001 (GRCm39) |
V451I |
possibly damaging |
Het |
| Pask |
G |
A |
1: 93,253,191 (GRCm39) |
Q399* |
probably null |
Het |
| Pbk |
T |
A |
14: 66,049,439 (GRCm39) |
F39I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,753 (GRCm39) |
K1794R |
possibly damaging |
Het |
| Pibf1 |
T |
C |
14: 99,424,069 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
G |
A |
1: 97,645,187 (GRCm39) |
T1089I |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,635,492 (GRCm39) |
F45L |
possibly damaging |
Het |
| Pramel21 |
T |
G |
4: 143,342,741 (GRCm39) |
S283A |
possibly damaging |
Het |
| Samd4 |
T |
C |
14: 47,301,728 (GRCm39) |
F344S |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,333 (GRCm39) |
M334I |
possibly damaging |
Het |
| Slc37a1 |
C |
T |
17: 31,556,365 (GRCm39) |
A363V |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,263,540 (GRCm39) |
I616F |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,427,206 (GRCm39) |
L257P |
probably damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,880 (GRCm39) |
F945L |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,187 (GRCm39) |
|
probably null |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim62 |
G |
A |
4: 128,802,963 (GRCm39) |
V338M |
probably damaging |
Het |
| Uevld |
A |
T |
7: 46,587,806 (GRCm39) |
I298N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,653 (GRCm39) |
E842G |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,346,296 (GRCm39) |
S1558R |
|
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 |
|
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 |
|
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'- GTATTGGCAGGCAGTGGTAC -3'
(R):5'- GCAAATTCCAGCAGCTAGC -3'
Sequencing Primer
(F):5'- TGGTACCAAGCTCTGAGAATC -3'
(R):5'- GCAGCTAGCAAGAGGAACTG -3'
|
| Posted On |
2022-09-08 |
Incidental Mutation