Incidental Mutation 'R0356:Ttll11'
| ID |
29812 |
| 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 |
038562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0356 (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 35792688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 385
(D385G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000140201]
[ENSMUST00000161970]
[ENSMUST00000162172]
|
| AlphaFold |
A4Q9F4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028248
AA Change: D385G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: D385G
| 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 |
possibly damaging
Transcript: ENSMUST00000112976
AA Change: D385G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: D385G
| 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 |
possibly damaging
Transcript: ENSMUST00000140201
AA Change: D201G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: D201G
| 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: D201G
|
| SMART Domains |
Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: D201G
| 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 benign
Transcript: ENSMUST00000162172
AA Change: D201G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: D201G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
204 |
1.2e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.8699 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
| Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
| Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
| Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
| Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
| Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
| Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
| Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
| Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
| Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
| Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
| Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
| Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
| Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
| Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
probably benign |
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 |
|
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 |
|
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'- TCACATAGCCAAGGAGCCTTTCCC -3'
(R):5'- TCGACAAACTCAAGTTCGACATCCG -3'
Sequencing Primer
(F):5'- TTTCCCCAGCCCAGTCAAG -3'
(R):5'- AAGTTCGACATCCGTCTGTATG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation