Incidental Mutation 'R4346:Ttll11'
| ID |
324320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll11
|
| Ensembl Gene |
ENSMUSG00000026885 |
| Gene Name |
tubulin tyrosine ligase-like family, member 11 |
| Synonyms |
4932702F08Rik, 4933424A20Rik, D2Ertd624e |
| MMRRC Submission |
041667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35674130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 599
(N599S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000161970]
|
| AlphaFold |
A4Q9F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028248
AA Change: N632S
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: N632S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
170 |
477 |
9.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112976
AA Change: N599S
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: N599S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
170 |
477 |
5.9e-68 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160906
AA Change: N415S
|
| SMART Domains |
Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: N415S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
304 |
4.2e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161970
|
| SMART Domains |
Protein: ENSMUSP00000125627
Gene: ENSMUSG00000026885
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gosa1
|
33 |
88 |
5e-3 |
SMART |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0638 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
G |
A |
2: 154,887,651 (GRCm39) |
R37Q |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,583,264 (GRCm39) |
T128A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,072 (GRCm39) |
Q1763L |
possibly damaging |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,263,759 (GRCm39) |
C730* |
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,525 (GRCm39) |
E195G |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,571,337 (GRCm39) |
V204A |
probably benign |
Het |
| Igkv8-28 |
C |
T |
6: 70,121,096 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,988,357 (GRCm39) |
M308T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,806 (GRCm39) |
N874S |
probably benign |
Het |
| Med12l |
A |
T |
3: 58,938,976 (GRCm39) |
T37S |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,251,357 (GRCm39) |
Y57C |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,651,592 (GRCm39) |
T8A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,954,941 (GRCm39) |
V607A |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,095,478 (GRCm39) |
D409G |
probably damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,580 (GRCm39) |
T93I |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,044,705 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,878 (GRCm39) |
V29M |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,304,692 (GRCm39) |
I221V |
probably benign |
Het |
| Tnfrsf19 |
C |
A |
14: 61,209,429 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,638,926 (GRCm39) |
I13919L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,577,537 (GRCm39) |
F334L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,799,099 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,478,681 (GRCm39) |
Y286C |
probably damaging |
Het |
|
| Other mutations in Ttll11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Ttll11
|
APN |
2 |
35,792,732 (GRCm39) |
nonsense |
probably null |
|
|
IGL01148:Ttll11
|
APN |
2 |
35,674,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02933:Ttll11
|
APN |
2 |
35,869,422 (GRCm39) |
missense |
probably benign |
|
|
e-suppressor
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Ttll11
|
UTSW |
2 |
35,792,688 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0494:Ttll11
|
UTSW |
2 |
35,834,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Ttll11
|
UTSW |
2 |
35,779,337 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1688:Ttll11
|
UTSW |
2 |
35,685,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Ttll11
|
UTSW |
2 |
35,830,765 (GRCm39) |
missense |
probably null |
|
|
R2414:Ttll11
|
UTSW |
2 |
35,869,546 (GRCm39) |
missense |
unknown |
|
|
R2986:Ttll11
|
UTSW |
2 |
35,707,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Ttll11
|
UTSW |
2 |
35,869,564 (GRCm39) |
small deletion |
probably benign |
|
|
R5234:Ttll11
|
UTSW |
2 |
35,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Ttll11
|
UTSW |
2 |
35,792,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5442:Ttll11
|
UTSW |
2 |
35,793,135 (GRCm39) |
makesense |
probably null |
|
|
R5482:Ttll11
|
UTSW |
2 |
35,642,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ttll11
|
UTSW |
2 |
35,707,798 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6219:Ttll11
|
UTSW |
2 |
35,642,511 (GRCm39) |
splice site |
probably null |
|
|
R6481:Ttll11
|
UTSW |
2 |
35,792,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Ttll11
|
UTSW |
2 |
35,780,460 (GRCm39) |
splice site |
probably null |
|
|
R6944:Ttll11
|
UTSW |
2 |
35,642,306 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7224:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Ttll11
|
UTSW |
2 |
35,793,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Ttll11
|
UTSW |
2 |
35,792,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Ttll11
|
UTSW |
2 |
35,869,527 (GRCm39) |
missense |
unknown |
|
|
R8200:Ttll11
|
UTSW |
2 |
35,834,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Ttll11
|
UTSW |
2 |
35,830,721 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8691:Ttll11
|
UTSW |
2 |
35,674,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Ttll11
|
UTSW |
2 |
35,792,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Ttll11
|
UTSW |
2 |
35,707,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9054:Ttll11
|
UTSW |
2 |
35,869,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0026:Ttll11
|
UTSW |
2 |
35,685,364 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACCTCCAGTAGTGATAAAG -3'
(R):5'- ATGATCTCTGCTCCAAAGGCC -3'
Sequencing Primer
(F):5'- CCTCCAGTAGTGATAAAGAAAGAAAG -3'
(R):5'- TCCAAAGGCCGTGCTTGTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation