Incidental Mutation 'R6060:Ttll13'
| ID |
483187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll13
|
| Ensembl Gene |
ENSMUSG00000045467 |
| Gene Name |
tubulin tyrosine ligase-like family, member 13 |
| Synonyms |
1700111A04Rik |
| MMRRC Submission |
044426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R6060 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79896124-79910569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79908491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 576
(R576H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058266]
[ENSMUST00000117989]
[ENSMUST00000205270]
|
| AlphaFold |
A4Q9F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058266
AA Change: R607H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: R607H
| 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 |
noncoding transcript
Transcript: ENSMUST00000107381
|
| SMART Domains |
Protein: ENSMUSP00000103004
Gene: ENSMUSG00000045467
| 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 |
3.5e-90 |
PFAM |
|
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117989
|
| SMART Domains |
Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
46 |
70 |
N/A |
INTRINSIC |
|
Pfam:Neugrin
|
73 |
293 |
1.2e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138005
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205270
AA Change: R576H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
| Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
| Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,556,285 (GRCm39) |
N27K |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
| Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
| Iftap |
T |
C |
2: 101,440,950 (GRCm39) |
K18E |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
| Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
| Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
| Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
| Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
| Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
| Rnf32 |
A |
T |
5: 29,411,752 (GRCm39) |
I214L |
probably benign |
Het |
| Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
| Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,767,972 (GRCm39) |
M179V |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,299,004 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
| Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
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 |
|
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 |
|
R7217:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGGGAATCTTACAGTGCGGC -3'
(R):5'- CCATCACAAGAACCTCCTTTGG -3'
Sequencing Primer
(F):5'- TAGAATGGGCCAGGGGTC -3'
(R):5'- AGAACCTCCTTTGGTGAAACC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation