Incidental Mutation 'R8801:Ttll11'
| ID |
671477 |
| 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 |
068611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35792985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 286
(L286H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000140201]
[ENSMUST00000161970]
[ENSMUST00000162172]
|
| AlphaFold |
A4Q9F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028248
AA Change: L286H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: L286H
| 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: L286H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: L286H
| 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 |
probably damaging
Transcript: ENSMUST00000140201
AA Change: L102H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: L102H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
210 |
2.9e-50 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: L102H
| 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: L102H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: L102H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
204 |
1.2e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,972 (GRCm39) |
V100I |
unknown |
Het |
| Acta2 |
G |
T |
19: 34,229,207 (GRCm39) |
Q61K |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,258,490 (GRCm39) |
D357A |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,009,452 (GRCm39) |
F798S |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,791,438 (GRCm39) |
V779A |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,103 (GRCm39) |
P1466T |
probably benign |
Het |
| B3gnt2 |
T |
C |
11: 22,787,002 (GRCm39) |
E62G |
probably damaging |
Het |
| Bcan |
A |
C |
3: 87,904,582 (GRCm39) |
V58G |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,810,339 (GRCm39) |
Q66R |
probably damaging |
Het |
| Cdh6 |
G |
A |
15: 13,044,847 (GRCm39) |
T425I |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,457,195 (GRCm39) |
Y3554C |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,321,024 (GRCm39) |
H262L |
possibly damaging |
Het |
| Dgcr8 |
A |
G |
16: 18,098,500 (GRCm39) |
F334S |
probably damaging |
Het |
| Dipk1c |
T |
C |
18: 84,757,617 (GRCm39) |
S234P |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,022 (GRCm39) |
T497A |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,381,502 (GRCm39) |
V2749A |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,270 (GRCm39) |
N486D |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,287,021 (GRCm39) |
T213A |
probably damaging |
Het |
| Fbxo41 |
T |
A |
6: 85,461,663 (GRCm39) |
E15V |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,188 (GRCm39) |
A188T |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,423,402 (GRCm39) |
S160F |
possibly damaging |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
C |
2: 155,406,686 (GRCm39) |
Y432C |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,423,298 (GRCm39) |
F5I |
unknown |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Klf12 |
T |
G |
14: 100,260,172 (GRCm39) |
I186L |
probably benign |
Het |
| Klrg1 |
C |
T |
6: 122,248,342 (GRCm39) |
V186I |
probably benign |
Het |
| Loxl3 |
G |
T |
6: 83,025,629 (GRCm39) |
W329L |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,595 (GRCm39) |
V1759E |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,870,609 (GRCm39) |
V507I |
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,075,086 (GRCm39) |
T470M |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,373 (GRCm39) |
Y175H |
possibly damaging |
Het |
| Nedd4l |
A |
G |
18: 65,288,346 (GRCm39) |
E2G |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,009,393 (GRCm39) |
|
probably benign |
Het |
| Optc |
A |
G |
1: 133,832,819 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,727 (GRCm39) |
V247A |
probably benign |
Het |
| Oxtr |
T |
A |
6: 112,466,873 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,758,305 (GRCm39) |
R1463G |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,059,438 (GRCm39) |
Y383C |
probably benign |
Het |
| Psmc3ip |
T |
C |
11: 100,984,617 (GRCm39) |
N76S |
probably benign |
Het |
| Reln |
T |
A |
5: 22,155,854 (GRCm39) |
M2213L |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,070,260 (GRCm39) |
D1271G |
probably damaging |
Het |
| Rprd1a |
T |
G |
18: 24,641,280 (GRCm39) |
E112A |
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,411,384 (GRCm39) |
D391V |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,185,737 (GRCm39) |
H314L |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,127,853 (GRCm39) |
S1269T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,308,335 (GRCm39) |
E740G |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,663,742 (GRCm39) |
Q46L |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,173,618 (GRCm39) |
A21T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,848 (GRCm39) |
T721A |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,998,403 (GRCm39) |
S241P |
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 |
|
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 |
|
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'- TGCCGCTGTGGATATTCAG -3'
(R):5'- ACATCCCTAACAGTCCGGTG -3'
Sequencing Primer
(F):5'- CCGCTGTGGATATTCAGGGAGTAG -3'
(R):5'- TCCCTTCCAGGTCCAAACGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation