Incidental Mutation 'R0388:Ttll9'
| ID |
31395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
038594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152842099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 318
(S318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099197
AA Change: S318G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: S318G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103155
AA Change: S318G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: S318G
| 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 |
noncoding transcript
Transcript: ENSMUST00000150218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,326,402 (GRCm39) |
I410T |
probably benign |
Het |
| Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,254,277 (GRCm39) |
M222V |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,318,026 (GRCm39) |
L714Q |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
| Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
| Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,435,241 (GRCm39) |
D837G |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast1 |
T |
G |
8: 85,642,166 (GRCm39) |
I1063L |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
| Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
| Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
| Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
| Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
| Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
| Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
| Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
| Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
| Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
| Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTCAAGAACCATCAGGTAGGCTCC -3'
(R):5'- TTGAAACTACTTAGCCATGCTCCCAAG -3'
Sequencing Primer
(F):5'- CATCAGGTAGGCTCCAGTGAAC -3'
(R):5'- ccgtttctctgtctctgtctc -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation