Incidental Mutation 'R7217:Ttll13'
| ID |
561534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll13
|
| Ensembl Gene |
ENSMUSG00000045467 |
| Gene Name |
tubulin tyrosine ligase-like family, member 13 |
| Synonyms |
1700111A04Rik |
| MMRRC Submission |
045289-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R7217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79896124-79910569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79903911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 280
(K280Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058266]
[ENSMUST00000205270]
|
| AlphaFold |
A4Q9F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058266
AA Change: K311Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: K311Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
131 |
427 |
3.4e-90 |
PFAM |
|
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205270
AA Change: K280Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1891 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
| Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
| Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
| Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
| Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
| H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
| Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
| Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
| Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
| Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
| Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
Het |
|
| Other mutations in Ttll13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00808:Ttll13
|
APN |
7 |
79,909,297 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01289:Ttll13
|
APN |
7 |
79,910,187 (GRCm39) |
missense |
probably benign |
|
|
IGL02026:Ttll13
|
APN |
7 |
79,910,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02816:Ttll13
|
APN |
7 |
79,902,842 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0345:Ttll13
|
UTSW |
7 |
79,897,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0347:Ttll13
|
UTSW |
7 |
79,910,253 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0491:Ttll13
|
UTSW |
7 |
79,910,098 (GRCm39) |
missense |
probably benign |
|
|
R1779:Ttll13
|
UTSW |
7 |
79,910,256 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1983:Ttll13
|
UTSW |
7 |
79,903,364 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2218:Ttll13
|
UTSW |
7 |
79,902,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Ttll13
|
UTSW |
7 |
79,899,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Ttll13
|
UTSW |
7 |
79,906,667 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4736:Ttll13
|
UTSW |
7 |
79,898,024 (GRCm39) |
splice site |
probably null |
|
|
R5330:Ttll13
|
UTSW |
7 |
79,910,257 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5930:Ttll13
|
UTSW |
7 |
79,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Ttll13
|
UTSW |
7 |
79,904,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Ttll13
|
UTSW |
7 |
79,909,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6256:Ttll13
|
UTSW |
7 |
79,908,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6501:Ttll13
|
UTSW |
7 |
79,899,924 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6901:Ttll13
|
UTSW |
7 |
79,899,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Ttll13
|
UTSW |
7 |
79,906,778 (GRCm39) |
missense |
probably null |
0.53 |
|
R7127:Ttll13
|
UTSW |
7 |
79,903,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7241:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Ttll13
|
UTSW |
7 |
79,906,772 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7453:Ttll13
|
UTSW |
7 |
79,910,182 (GRCm39) |
missense |
probably benign |
|
|
R7579:Ttll13
|
UTSW |
7 |
79,907,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Ttll13
|
UTSW |
7 |
79,902,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Ttll13
|
UTSW |
7 |
79,903,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Ttll13
|
UTSW |
7 |
79,905,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8122:Ttll13
|
UTSW |
7 |
79,909,217 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8739:Ttll13
|
UTSW |
7 |
79,902,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9124:Ttll13
|
UTSW |
7 |
79,906,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Ttll13
|
UTSW |
7 |
79,897,182 (GRCm39) |
missense |
probably benign |
|
|
R9157:Ttll13
|
UTSW |
7 |
79,904,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9572:Ttll13
|
UTSW |
7 |
79,908,008 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1189:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGGGACAGTCTCTGGTGAAG -3'
(R):5'- CTTCAAAGCGCTGCTAGCAG -3'
Sequencing Primer
(F):5'- CAGGAGCTGAGCAGTCTTG -3'
(R):5'- TGCTAGCAGCTGGGAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation