Incidental Mutation 'R3972:Ttll12'
| ID |
311039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll12
|
| Ensembl Gene |
ENSMUSG00000016757 |
| Gene Name |
tubulin tyrosine ligase-like family, member 12 |
| Synonyms |
|
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83459295-83479358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83466297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 388
(L388Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016901]
[ENSMUST00000136066]
|
| AlphaFold |
Q3UDE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016901
AA Change: L388Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: L388Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
341 |
637 |
7.4e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136066
|
| SMART Domains |
Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
79 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
Het |
|
| Other mutations in Ttll12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ttll12
|
APN |
15 |
83,462,857 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00942:Ttll12
|
APN |
15 |
83,466,649 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01746:Ttll12
|
APN |
15 |
83,462,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Ttll12
|
APN |
15 |
83,466,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Ttll12
|
APN |
15 |
83,471,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Ttll12
|
APN |
15 |
83,465,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0403:Ttll12
|
UTSW |
15 |
83,464,859 (GRCm39) |
splice site |
probably benign |
|
|
R1477:Ttll12
|
UTSW |
15 |
83,464,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Ttll12
|
UTSW |
15 |
83,472,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Ttll12
|
UTSW |
15 |
83,465,976 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3508:Ttll12
|
UTSW |
15 |
83,464,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4198:Ttll12
|
UTSW |
15 |
83,461,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4200:Ttll12
|
UTSW |
15 |
83,461,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Ttll12
|
UTSW |
15 |
83,465,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Ttll12
|
UTSW |
15 |
83,464,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Ttll12
|
UTSW |
15 |
83,471,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Ttll12
|
UTSW |
15 |
83,461,237 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6824:Ttll12
|
UTSW |
15 |
83,475,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7034:Ttll12
|
UTSW |
15 |
83,471,086 (GRCm39) |
missense |
probably benign |
|
|
R7036:Ttll12
|
UTSW |
15 |
83,471,086 (GRCm39) |
missense |
probably benign |
|
|
R7447:Ttll12
|
UTSW |
15 |
83,471,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Ttll12
|
UTSW |
15 |
83,462,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8721:Ttll12
|
UTSW |
15 |
83,464,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Ttll12
|
UTSW |
15 |
83,465,993 (GRCm39) |
splice site |
probably benign |
|
|
R9199:Ttll12
|
UTSW |
15 |
83,466,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9202:Ttll12
|
UTSW |
15 |
83,466,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ttll12
|
UTSW |
15 |
83,466,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCTGGTAGGTGCTCAG -3'
(R):5'- CATACCCAGTGCCTCTGATGAC -3'
Sequencing Primer
(F):5'- AGCTGGTAGGTGCTCAGCTAAG -3'
(R):5'- GGATGCTAAGCTGACCTCTCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation