Incidental Mutation 'R4198:Ttll12'
| ID |
318652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll12
|
| Ensembl Gene |
ENSMUSG00000016757 |
| Gene Name |
tubulin tyrosine ligase-like family, member 12 |
| Synonyms |
|
| MMRRC Submission |
041640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4198 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,124,766 (GRCm39) |
M1002I |
probably benign |
Het |
| Ap2b1 |
C |
A |
11: 83,233,429 (GRCm39) |
Q481K |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,463,434 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,332,928 (GRCm39) |
T201I |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,382 (GRCm39) |
V181A |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,032,496 (GRCm39) |
I488T |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,404,717 (GRCm39) |
T2368A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,315,702 (GRCm39) |
I1113F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,655,699 (GRCm39) |
N1020D |
probably benign |
Het |
| Gprc5c |
T |
G |
11: 114,754,686 (GRCm39) |
L121R |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,448,835 (GRCm39) |
*352Q |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnpk |
T |
C |
2: 74,399,453 (GRCm39) |
E30G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,025 (GRCm39) |
M79L |
probably benign |
Het |
| Or2y11 |
G |
A |
11: 49,443,461 (GRCm39) |
V296M |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,264,680 (GRCm39) |
M792T |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,948 (GRCm39) |
I339V |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Snx20 |
A |
G |
8: 89,354,226 (GRCm39) |
V168A |
possibly damaging |
Het |
| Sowaha |
T |
C |
11: 53,369,395 (GRCm39) |
E447G |
possibly damaging |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Stx19 |
G |
T |
16: 62,643,039 (GRCm39) |
C285F |
possibly damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
C |
T |
11: 97,039,894 (GRCm39) |
|
probably null |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,240,226 (GRCm39) |
M598V |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,685,125 (GRCm39) |
I165V |
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 |
|
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'- AAAGGCAGTTCTGTGAGCAG -3'
(R):5'- CTTCAGCCTTTCTTTGGGGAGC -3'
Sequencing Primer
(F):5'- AGAGGCTGGACCGGCTG -3'
(R):5'- GGTCTCAAGCTAGGGAATGTACATTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation