Incidental Mutation 'IGL00230:Ttll12'
| ID |
2124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll12
|
| Ensembl Gene |
ENSMUSG00000016757 |
| Gene Name |
tubulin tyrosine ligase-like family, member 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
83459295-83479358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83462857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 536
(E536D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016901]
[ENSMUST00000047419]
[ENSMUST00000136066]
|
| AlphaFold |
Q3UDE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016901
AA Change: E536D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: E536D
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bin1 |
C |
T |
18: 32,553,160 (GRCm39) |
A215V |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,156,704 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
C |
T |
4: 96,424,283 (GRCm39) |
R158H |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,540 (GRCm39) |
D507G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,620,149 (GRCm39) |
E245G |
possibly damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,949,070 (GRCm39) |
|
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,888,985 (GRCm39) |
Q195L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,291,950 (GRCm39) |
T229A |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,521,007 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
G |
T |
7: 115,682,789 (GRCm39) |
T264K |
probably damaging |
Het |
| Gsk3b |
A |
T |
16: 38,049,069 (GRCm39) |
I389F |
probably benign |
Het |
| H2bc14 |
G |
T |
13: 21,906,545 (GRCm39) |
R93L |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,956,752 (GRCm39) |
T194A |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,323,457 (GRCm39) |
Y273C |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,548,693 (GRCm39) |
V1066D |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 92,982,656 (GRCm39) |
A707E |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,875 (GRCm39) |
M674T |
probably benign |
Het |
| Mas1 |
T |
C |
17: 13,060,877 (GRCm39) |
D182G |
probably benign |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,808,161 (GRCm39) |
E289G |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,551,958 (GRCm39) |
G264V |
possibly damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,461,385 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,413 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,245,630 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,762,968 (GRCm39) |
Y404* |
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,392,930 (GRCm39) |
I788V |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,266,759 (GRCm39) |
M112K |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,195,177 (GRCm39) |
M153V |
probably benign |
Het |
| Slc9c1 |
T |
G |
16: 45,393,752 (GRCm39) |
V565G |
possibly damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tec |
C |
T |
5: 72,926,111 (GRCm39) |
A314T |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,699,139 (GRCm39) |
I803V |
probably benign |
Het |
| Trav9-1 |
A |
T |
14: 53,725,850 (GRCm39) |
I55F |
probably benign |
Het |
| Ubqln1 |
C |
A |
13: 58,325,806 (GRCm39) |
E152* |
probably null |
Het |
| Wwtr1 |
G |
A |
3: 57,370,912 (GRCm39) |
T338I |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,928,099 (GRCm39) |
F206S |
probably benign |
Het |
|
| Other mutations in Ttll12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-12-09 |
Incidental Mutation