Incidental Mutation 'R2314:Ttll9'
ID |
245399 |
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 # |
R2314 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152825047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 75
(D75E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122494
(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: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096803 Gene: ENSMUSG00000074673 AA Change: D75E
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103155
AA Change: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099444 Gene: ENSMUSG00000074673 AA Change: D75E
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: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105426 Gene: ENSMUSG00000074673 AA Change: D75E
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
AA Change: D75E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155631
AA Change: D64E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114786 Gene: ENSMUSG00000074673 AA Change: D64E
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
Meta Mutation Damage Score |
0.1271 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
A |
G |
9: 4,309,322 (GRCm39) |
S39P |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Anxa6 |
T |
A |
11: 54,902,561 (GRCm39) |
I58F |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,181,763 (GRCm39) |
K582* |
probably null |
Het |
Cebpz |
A |
G |
17: 79,227,976 (GRCm39) |
|
probably null |
Het |
Clstn3 |
T |
A |
6: 124,427,676 (GRCm39) |
D473V |
probably benign |
Het |
Cry1 |
A |
T |
10: 84,969,175 (GRCm39) |
C550S |
probably benign |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dolk |
G |
T |
2: 30,175,497 (GRCm39) |
L183M |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
Drd4 |
T |
C |
7: 140,873,854 (GRCm39) |
Y140H |
probably damaging |
Het |
Duox1 |
C |
A |
2: 122,164,211 (GRCm39) |
C890* |
probably null |
Het |
Epha2 |
T |
A |
4: 141,046,325 (GRCm39) |
V508E |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
Fgfr1 |
C |
T |
8: 26,060,909 (GRCm39) |
S527F |
probably damaging |
Het |
Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
Gm21834 |
A |
T |
17: 58,049,210 (GRCm39) |
V2E |
possibly damaging |
Het |
Gm7853 |
A |
T |
14: 35,811,621 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
T |
A |
17: 12,934,830 (GRCm39) |
H713L |
probably benign |
Het |
Iqgap3 |
T |
C |
3: 88,023,338 (GRCm39) |
V543A |
probably benign |
Het |
Kcnq5 |
T |
A |
1: 21,549,595 (GRCm39) |
|
probably null |
Het |
Lsm1 |
C |
T |
8: 26,275,712 (GRCm39) |
P5S |
possibly damaging |
Het |
Marchf1 |
T |
C |
8: 66,574,442 (GRCm39) |
M1T |
probably null |
Het |
Myocd |
T |
C |
11: 65,091,633 (GRCm39) |
H103R |
probably damaging |
Het |
Myom2 |
C |
T |
8: 15,113,927 (GRCm39) |
T25I |
probably damaging |
Het |
Nck1 |
T |
C |
9: 100,380,003 (GRCm39) |
K83E |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
Onecut2 |
G |
T |
18: 64,474,268 (GRCm39) |
R254L |
probably damaging |
Het |
Or51k1 |
T |
A |
7: 103,661,436 (GRCm39) |
M158L |
probably benign |
Het |
Plxna1 |
A |
C |
6: 89,301,298 (GRCm39) |
L1534R |
probably damaging |
Het |
Polb |
C |
A |
8: 23,130,018 (GRCm39) |
A185S |
possibly damaging |
Het |
Pou3f3 |
T |
C |
1: 42,737,651 (GRCm39) |
V449A |
probably damaging |
Het |
Pskh1 |
C |
T |
8: 106,640,145 (GRCm39) |
T275I |
probably damaging |
Het |
Rab18 |
C |
A |
18: 6,788,516 (GRCm39) |
A161D |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,384,011 (GRCm39) |
R164G |
probably benign |
Het |
Sacs |
T |
A |
14: 61,445,208 (GRCm39) |
I2418K |
probably benign |
Het |
Scrn1 |
T |
C |
6: 54,502,631 (GRCm39) |
E136G |
probably benign |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Slitrk6 |
C |
T |
14: 110,989,387 (GRCm39) |
A107T |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,723,783 (GRCm39) |
S466G |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,965,795 (GRCm39) |
F451Y |
probably damaging |
Het |
Tnks1bp1 |
G |
A |
2: 84,889,259 (GRCm39) |
V529M |
probably benign |
Het |
Trps1 |
T |
C |
15: 50,524,742 (GRCm39) |
K874E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,596,368 (GRCm39) |
Y20182H |
probably damaging |
Het |
Ufc1 |
A |
T |
1: 171,116,821 (GRCm39) |
C116S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,976 (GRCm39) |
K158E |
possibly damaging |
Het |
Zfp81 |
A |
G |
17: 33,553,597 (GRCm39) |
Y406H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTTAGGAAGTAGTTGAGAC -3'
(R):5'- ACTTACTGATAAGCCTAGCTCCC -3'
Sequencing Primer
(F):5'- CCTTAGGAAGTAGTTGAGACTGGAAC -3'
(R):5'- TCTTGGGGAATCACACTGGAATCC -3'
|
Posted On |
2014-10-30 |