Incidental Mutation 'R6219:Ttll11'
| ID |
503887 |
| 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 |
044351-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6219 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 35642511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028248]
[ENSMUST00000028248]
[ENSMUST00000112976]
[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: 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: 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 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
T |
C |
4: 136,190,059 (GRCm39) |
S147P |
unknown |
Het |
| Acat2 |
T |
C |
17: 13,179,604 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,792,553 (GRCm39) |
D349G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,445,678 (GRCm39) |
E523* |
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,375 (GRCm39) |
A52T |
possibly damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cirop |
G |
T |
14: 54,933,116 (GRCm39) |
Q356K |
noncoding transcript |
Het |
| Cmya5 |
T |
C |
13: 93,230,951 (GRCm39) |
E1379G |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,558,189 (GRCm39) |
D822G |
possibly damaging |
Het |
| Cyp4a29 |
A |
C |
4: 115,106,927 (GRCm39) |
T195P |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,035,434 (GRCm39) |
T2283S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,745 (GRCm39) |
D2291G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,872,080 (GRCm39) |
L493F |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,876,520 (GRCm39) |
G227D |
probably damaging |
Het |
| Fmo2 |
A |
T |
1: 162,708,085 (GRCm39) |
V350D |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,489,102 (GRCm39) |
P487S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm35315 |
G |
T |
5: 110,226,410 (GRCm39) |
T343K |
probably benign |
Het |
| Gpr141 |
A |
G |
13: 19,936,697 (GRCm39) |
I26T |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,446,941 (GRCm39) |
V311G |
possibly damaging |
Het |
| Ino80d |
C |
T |
1: 63,118,206 (GRCm39) |
E322K |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,121 (GRCm39) |
S1104P |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,097,851 (GRCm39) |
F1744L |
probably benign |
Het |
| Lcn10 |
A |
T |
2: 25,573,587 (GRCm39) |
R55* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,299,822 (GRCm39) |
C3077S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,566 (GRCm39) |
S826R |
probably benign |
Het |
| Nr2c1 |
G |
T |
10: 93,999,648 (GRCm39) |
V103L |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,663,612 (GRCm39) |
D310E |
possibly damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,093 (GRCm39) |
S219P |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,359,187 (GRCm39) |
E112D |
probably damaging |
Het |
| Pira12 |
A |
T |
7: 3,897,640 (GRCm39) |
V485E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,153,594 (GRCm39) |
K2237E |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,466,940 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,459,770 (GRCm39) |
H1350L |
possibly damaging |
Het |
| Snx15 |
A |
G |
19: 6,171,538 (GRCm39) |
S179P |
probably damaging |
Het |
| Sp8 |
T |
G |
12: 118,812,402 (GRCm39) |
S86A |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,907,803 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,365,175 (GRCm39) |
S196P |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,530 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,843,604 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
C |
A |
1: 37,139,779 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,078,340 (GRCm39) |
V312E |
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 |
|
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'- AATGCTCTGGGCGGTTCATC -3'
(R):5'- ACTGCTCTGAGACTCTGTGACC -3'
Sequencing Primer
(F):5'- TTCATCTGGGGCGGATTTC -3'
(R):5'- TCTGAGAGAGAAAACCTACTTCCTGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation