Incidental Mutation 'R5375:Ttll9'
ID |
428992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll9
|
Ensembl Gene |
ENSMUSG00000074673 |
Gene Name |
tubulin tyrosine ligase-like family, member 9 |
Synonyms |
4930509O20Rik, 1700016F23Rik |
MMRRC Submission |
042951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5375 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 152826144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 118
(C118F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000155631]
[ENSMUST00000165343]
|
AlphaFold |
A2APC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099197
AA Change: C118F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000096803 Gene: ENSMUSG00000074673 AA Change: C118F
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103155
AA Change: C118F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099444 Gene: ENSMUSG00000074673 AA Change: C118F
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
AA Change: C118F
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105426 Gene: ENSMUSG00000074673 AA Change: C118F
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
AA Change: C107F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000114786 Gene: ENSMUSG00000074673 AA Change: C107F
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
T |
A |
12: 4,260,870 (GRCm39) |
N995K |
probably damaging |
Het |
Aldh4a1 |
T |
C |
4: 139,361,233 (GRCm39) |
M60T |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,505,809 (GRCm39) |
H70Q |
probably damaging |
Het |
Babam2 |
T |
A |
5: 31,859,207 (GRCm39) |
I5N |
possibly damaging |
Het |
Blm |
T |
C |
7: 80,162,977 (GRCm39) |
T125A |
probably benign |
Het |
Bloc1s1 |
T |
C |
10: 128,759,826 (GRCm39) |
|
probably benign |
Het |
Calcr |
G |
T |
6: 3,714,651 (GRCm39) |
Q160K |
probably benign |
Het |
Ccdc43 |
C |
T |
11: 102,581,058 (GRCm39) |
A131T |
probably damaging |
Het |
Cdh15 |
A |
T |
8: 123,591,839 (GRCm39) |
N575Y |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,441,611 (GRCm39) |
D827G |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,387,059 (GRCm39) |
|
probably null |
Het |
Creb5 |
A |
T |
6: 53,658,002 (GRCm39) |
M255L |
possibly damaging |
Het |
Cst8 |
A |
G |
2: 148,646,503 (GRCm39) |
I78V |
probably benign |
Het |
Cyld |
A |
G |
8: 89,459,664 (GRCm39) |
E440G |
possibly damaging |
Het |
Cyp2b9 |
A |
C |
7: 25,887,167 (GRCm39) |
D192A |
probably damaging |
Het |
Dclre1b |
C |
T |
3: 103,711,290 (GRCm39) |
R207H |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,100,838 (GRCm39) |
F1936L |
probably damaging |
Het |
Dpp9 |
A |
C |
17: 56,496,424 (GRCm39) |
Y761* |
probably null |
Het |
Drc1 |
A |
T |
5: 30,513,745 (GRCm39) |
M434L |
probably benign |
Het |
Dtx3l |
A |
T |
16: 35,753,397 (GRCm39) |
I403N |
probably damaging |
Het |
Ecpas |
T |
A |
4: 58,809,401 (GRCm39) |
K1658* |
probably null |
Het |
Efcab9 |
A |
G |
11: 32,477,484 (GRCm39) |
Y13H |
probably damaging |
Het |
Efhb |
T |
A |
17: 53,708,654 (GRCm39) |
N672I |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,084,835 (GRCm39) |
V894A |
possibly damaging |
Het |
Elovl3 |
T |
C |
19: 46,123,135 (GRCm39) |
F237S |
probably benign |
Het |
Emc1 |
T |
A |
4: 139,093,802 (GRCm39) |
D637E |
probably damaging |
Het |
Erbb2 |
C |
A |
11: 98,324,238 (GRCm39) |
P742Q |
probably damaging |
Het |
Fam234b |
C |
A |
6: 135,210,355 (GRCm39) |
L584M |
probably damaging |
Het |
Fancd2 |
A |
T |
6: 113,545,673 (GRCm39) |
D14V |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,153,646 (GRCm39) |
H3522R |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,842,945 (GRCm39) |
N147D |
possibly damaging |
Het |
Gm26657 |
A |
G |
4: 56,741,180 (GRCm39) |
|
probably benign |
Het |
Hcrtr1 |
C |
T |
4: 130,029,518 (GRCm39) |
V188M |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,375,169 (GRCm39) |
V3331A |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,320,453 (GRCm39) |
V3978A |
possibly damaging |
Het |
Invs |
G |
A |
4: 48,385,262 (GRCm39) |
R202K |
probably benign |
Het |
Lgr5 |
C |
T |
10: 115,314,469 (GRCm39) |
S156N |
probably benign |
Het |
Mras |
T |
G |
9: 99,276,669 (GRCm39) |
D67A |
probably damaging |
Het |
Mrpl39 |
A |
G |
16: 84,520,790 (GRCm39) |
L283P |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,275,915 (GRCm39) |
I110N |
probably benign |
Het |
Neb |
T |
C |
2: 52,102,596 (GRCm39) |
D544G |
possibly damaging |
Het |
Nlrc3 |
A |
G |
16: 3,782,617 (GRCm39) |
I264T |
possibly damaging |
Het |
Or10a2 |
T |
A |
7: 106,673,080 (GRCm39) |
M15K |
probably benign |
Het |
Or1j13 |
A |
G |
2: 36,369,309 (GRCm39) |
Y278H |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,248 (GRCm39) |
Y252C |
possibly damaging |
Het |
Or7g18 |
A |
G |
9: 18,787,442 (GRCm39) |
K273R |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Phf11d |
T |
C |
14: 59,590,120 (GRCm39) |
D234G |
probably null |
Het |
Polq |
A |
T |
16: 36,903,146 (GRCm39) |
D1980V |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,437,022 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,053,791 (GRCm39) |
V69A |
probably benign |
Het |
Sipa1 |
A |
G |
19: 5,709,640 (GRCm39) |
I260T |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 110,020,017 (GRCm39) |
L628H |
probably damaging |
Het |
Snx31 |
A |
G |
15: 36,525,730 (GRCm39) |
V323A |
probably damaging |
Het |
Sun2 |
A |
G |
15: 79,611,723 (GRCm39) |
S565P |
probably damaging |
Het |
Tmem74 |
C |
T |
15: 43,730,564 (GRCm39) |
D160N |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Trp53inp1 |
A |
G |
4: 11,165,305 (GRCm39) |
T110A |
probably benign |
Het |
Vps4b |
A |
G |
1: 106,719,422 (GRCm39) |
L42P |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,342,250 (GRCm39) |
N1497I |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,875,764 (GRCm39) |
V123A |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,477,485 (GRCm39) |
T3367S |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,615,813 (GRCm39) |
E1782G |
possibly damaging |
Het |
Zfp35 |
T |
A |
18: 24,135,973 (GRCm39) |
C106S |
possibly damaging |
Het |
Zfpm1 |
A |
G |
8: 123,062,812 (GRCm39) |
T624A |
probably benign |
Het |
Zmiz2 |
C |
T |
11: 6,347,519 (GRCm39) |
Q276* |
probably null |
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 |
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'- TCGTGTCCTCAGTCATCGTG -3'
(R):5'- GGTTCAGCTTTGATACTGGGCC -3'
Sequencing Primer
(F):5'- TAGCCCCTTCCCCACATAAATAAATG -3'
(R):5'- TGATACTGGGCCTTCCTGAGAC -3'
|
Posted On |
2016-09-06 |