Incidental Mutation 'R5340:Ttll11'
| ID |
422261 |
| 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 |
042919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5340 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35641253-35869925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35792801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 347
(H347Q)
|
| 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: H347Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: H347Q
| 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: H347Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: H347Q
| 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 benign
Transcript: ENSMUST00000140201
AA Change: H163Q
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: H163Q
| 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: H163Q
|
| SMART Domains |
Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: H163Q
| 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: H163Q
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: H163Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
204 |
1.2e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,420,231 (GRCm39) |
I793V |
probably benign |
Het |
| Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
| Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,852,781 (GRCm39) |
D391G |
probably benign |
Het |
| Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
| Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
| Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,871,929 (GRCm39) |
S960P |
probably benign |
Het |
| Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
| H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
| Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,359,427 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
| Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
| Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
| Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
| Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
| Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,670 (GRCm39) |
N683D |
probably benign |
Het |
| Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
| Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
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 |
|
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 |
|
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'- TGGCATGGTTACCTGGAAGC -3'
(R):5'- TCAAGTTCGACATCCGTCTG -3'
Sequencing Primer
(F):5'- GTCTGACTGGTAGAAAACTTTGAGC -3'
(R):5'- AAGTTCGACATCCGTCTGTATGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation