Incidental Mutation 'R5234:Ttll11'
| ID |
398180 |
| 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 |
042806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35830745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 209
(Y209D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000140201]
[ENSMUST00000161970]
[ENSMUST00000162172]
|
| AlphaFold |
A4Q9F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028248
AA Change: Y209D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: Y209D
| 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 damaging
Transcript: ENSMUST00000112976
AA Change: Y209D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: Y209D
| 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 |
noncoding transcript
Transcript: ENSMUST00000127742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140201
AA Change: Y25D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: Y25D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
210 |
2.9e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160284
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160906
AA Change: Y25D
|
| SMART Domains |
Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: Y25D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
304 |
4.2e-65 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162172
AA Change: Y25D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: Y25D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
204 |
1.2e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
| Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
| Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
| Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
| Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
| Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
| Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
| Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
| Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
| Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
| Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
| Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
| Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
possibly 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 |
|
|
R4346:Ttll11
|
UTSW |
2 |
35,674,130 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- GCCCAACTGTGTACAATCAAG -3'
(R):5'- AATCCGTCAGTCTCTGCTGC -3'
Sequencing Primer
(F):5'- GTGTACAATCAAGTCACCTAGCTTC -3'
(R):5'- TCAGTCTCTGCTGCAGGAGAAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation