Incidental Mutation 'R4200:Ttll12'
| ID |
318735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll12
|
| Ensembl Gene |
ENSMUSG00000016757 |
| Gene Name |
tubulin tyrosine ligase-like family, member 12 |
| Synonyms |
|
| MMRRC Submission |
041030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4200 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83459295-83479358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83461214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 602
(N602D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016901]
[ENSMUST00000047419]
[ENSMUST00000136066]
[ENSMUST00000208463]
|
| AlphaFold |
Q3UDE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016901
AA Change: N602D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: N602D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
341 |
637 |
7.4e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047419
|
| SMART Domains |
Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TspO_MBR
|
9 |
157 |
1e-50 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208463
|
| Meta Mutation Damage Score |
0.9210 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,955 (GRCm39) |
Y218N |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,716,344 (GRCm39) |
V256G |
possibly damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
| Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
| Nfatc4 |
C |
T |
14: 56,069,489 (GRCm39) |
R672W |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
| Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
| Pknox1 |
C |
A |
17: 31,818,584 (GRCm39) |
N272K |
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
| Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
probably benign |
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 |
|
R3972:Ttll12
|
UTSW |
15 |
83,466,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198: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'- CAAAGGCAGTTCTGTGAGCAG -3'
(R):5'- AGGGGTAGCTTCAGCCTTTC -3'
Sequencing Primer
(F):5'- AGAGGCTGGACCGGCTG -3'
(R):5'- GGTCTCAAGCTAGGGAATGTACATTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation