Incidental Mutation 'R6764:Ttll11'
ID |
531804 |
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 |
044880-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6764 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 35780460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000112976]
[ENSMUST00000161970]
|
AlphaFold |
A4Q9F4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028248
|
SMART Domains |
Protein: ENSMUSP00000028248 Gene: ENSMUSG00000026885
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 null
Transcript: ENSMUST00000112976
|
SMART Domains |
Protein: ENSMUSP00000108600 Gene: ENSMUSG00000026885
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 null
Transcript: ENSMUST00000160906
|
SMART Domains |
Protein: ENSMUSP00000125511 Gene: ENSMUSG00000026885
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
G |
T |
11: 53,290,657 (GRCm39) |
R539L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,389,441 (GRCm39) |
Y1147N |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,019,970 (GRCm39) |
F423L |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,112,181 (GRCm39) |
D571E |
probably benign |
Het |
Bank1 |
A |
G |
3: 135,948,701 (GRCm39) |
S159P |
probably damaging |
Het |
Bcan |
C |
A |
3: 87,895,685 (GRCm39) |
R817L |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,304,014 (GRCm39) |
S1990P |
possibly damaging |
Het |
Ccna1 |
G |
A |
3: 54,953,499 (GRCm39) |
T368M |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,038,056 (GRCm39) |
|
probably null |
Het |
Ctbp1 |
T |
C |
5: 33,416,589 (GRCm39) |
H136R |
possibly damaging |
Het |
Dner |
T |
G |
1: 84,472,502 (GRCm39) |
D366A |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
Evpl |
A |
G |
11: 116,113,770 (GRCm39) |
S1307P |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,966,402 (GRCm39) |
N720K |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,560 (GRCm39) |
E667G |
unknown |
Het |
Gm4846 |
A |
G |
1: 166,319,121 (GRCm39) |
C206R |
probably benign |
Het |
Grpel1 |
G |
A |
5: 36,622,569 (GRCm39) |
R11H |
probably benign |
Het |
Gsn |
A |
G |
2: 35,174,056 (GRCm39) |
Y55C |
probably damaging |
Het |
Hephl1 |
G |
A |
9: 15,000,217 (GRCm39) |
T345I |
possibly damaging |
Het |
Ints2 |
T |
A |
11: 86,103,605 (GRCm39) |
K1150N |
probably benign |
Het |
Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
Musk |
T |
C |
4: 58,354,027 (GRCm39) |
V360A |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,314,185 (GRCm39) |
|
probably benign |
Het |
Ninj2 |
G |
T |
6: 120,175,011 (GRCm39) |
A51S |
probably benign |
Het |
Nscme3l |
A |
G |
19: 5,552,900 (GRCm39) |
S294P |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,223,732 (GRCm39) |
Y182H |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,942,059 (GRCm39) |
F916S |
probably damaging |
Het |
Sfrp5 |
T |
A |
19: 42,188,238 (GRCm39) |
M194L |
probably benign |
Het |
Sigirr |
C |
T |
7: 140,673,155 (GRCm39) |
V99I |
probably benign |
Het |
Smco2 |
A |
G |
6: 146,772,827 (GRCm39) |
D343G |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,234 (GRCm39) |
I584T |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,179,011 (GRCm39) |
Q4488* |
probably null |
Het |
Tbc1d24 |
A |
C |
17: 24,404,754 (GRCm39) |
F130C |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,686,340 (GRCm39) |
V296A |
possibly damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,565,046 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,552,695 (GRCm39) |
S854P |
probably damaging |
Het |
Zfp330 |
C |
T |
8: 83,493,934 (GRCm39) |
C109Y |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,105,996 (GRCm39) |
D29G |
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 |
|
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 |
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'- GTGTGCGGCAATCACTTACTTC -3'
(R):5'- AAAGGGGTCGTCATTTTATGGC -3'
Sequencing Primer
(F):5'- GGCAATCACTTACTTCGTATTCATG -3'
(R):5'- CTTGAGGTGACACTGAGAGAGCC -3'
|
Posted On |
2018-08-29 |