Incidental Mutation 'R6681:Ttll6'
ID |
527512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll6
|
Ensembl Gene |
ENSMUSG00000038756 |
Gene Name |
tubulin tyrosine ligase-like family, member 6 |
Synonyms |
t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e |
MMRRC Submission |
044800-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6681 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96029689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 201
(C201S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
AlphaFold |
A4Q9E8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107680
AA Change: C97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: C97S
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167258
AA Change: C201S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: C201S
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
52 |
59 |
N/A |
INTRINSIC |
Pfam:TTL
|
103 |
397 |
2.9e-90 |
PFAM |
coiled coil region
|
480 |
506 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,915,447 (GRCm39) |
T971S |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,590,994 (GRCm39) |
Q1021* |
probably null |
Het |
Ccdc62 |
A |
G |
5: 124,072,156 (GRCm39) |
T62A |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,913,412 (GRCm39) |
S402P |
probably damaging |
Het |
Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,038,977 (GRCm39) |
T42A |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,560,385 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpp4 |
A |
T |
2: 62,178,893 (GRCm39) |
F607L |
probably benign |
Het |
Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
Fam53a |
A |
G |
5: 33,765,184 (GRCm39) |
L174P |
probably damaging |
Het |
Fh1 |
T |
C |
1: 175,446,690 (GRCm39) |
D62G |
probably null |
Het |
Gpatch11 |
T |
C |
17: 79,147,528 (GRCm39) |
I103T |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,988,731 (GRCm39) |
T169S |
probably benign |
Het |
Kbtbd3 |
A |
T |
9: 4,330,687 (GRCm39) |
I354F |
probably benign |
Het |
Kdm5b |
T |
C |
1: 134,541,007 (GRCm39) |
F700L |
possibly damaging |
Het |
Mamdc4 |
C |
A |
2: 25,457,756 (GRCm39) |
G439V |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,815,683 (GRCm39) |
S29L |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,069,174 (GRCm39) |
D328N |
probably damaging |
Het |
Or10j3b |
C |
A |
1: 173,043,973 (GRCm39) |
H252N |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Or5j1 |
T |
C |
2: 86,878,942 (GRCm39) |
T213A |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,706,710 (GRCm39) |
I13N |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Rest |
A |
G |
5: 77,428,844 (GRCm39) |
K421R |
probably damaging |
Het |
Rttn |
C |
A |
18: 89,032,735 (GRCm39) |
H668N |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,393,686 (GRCm39) |
I228V |
possibly damaging |
Het |
Scp2 |
G |
T |
4: 107,948,513 (GRCm39) |
Q155K |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,881,219 (GRCm39) |
R18* |
probably null |
Het |
Serpinb8 |
T |
A |
1: 107,525,321 (GRCm39) |
M41K |
probably damaging |
Het |
Sgsm2 |
A |
T |
11: 74,756,204 (GRCm39) |
W382R |
probably damaging |
Het |
Slc26a10 |
G |
T |
10: 127,009,530 (GRCm39) |
T606N |
possibly damaging |
Het |
Slc30a6 |
T |
C |
17: 74,711,027 (GRCm39) |
I40T |
possibly damaging |
Het |
Slfn5 |
G |
A |
11: 82,847,204 (GRCm39) |
E30K |
possibly damaging |
Het |
Sorcs2 |
C |
A |
5: 36,555,154 (GRCm39) |
R79L |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,268,527 (GRCm39) |
S865N |
probably damaging |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Trpv5 |
C |
G |
6: 41,630,288 (GRCm39) |
E601Q |
probably damaging |
Het |
Ttc39b |
A |
T |
4: 83,158,285 (GRCm39) |
|
probably benign |
Het |
Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,985 (GRCm39) |
|
probably benign |
Het |
Zfp433 |
A |
T |
10: 81,556,722 (GRCm39) |
H408L |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,032,450 (GRCm39) |
I145T |
possibly damaging |
Het |
|
Other mutations in Ttll6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02152:Ttll6
|
APN |
11 |
96,026,366 (GRCm39) |
nonsense |
probably null |
|
IGL02331:Ttll6
|
APN |
11 |
96,026,573 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Ttll6
|
APN |
11 |
96,047,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02551:Ttll6
|
APN |
11 |
96,045,526 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02618:Ttll6
|
APN |
11 |
96,038,388 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02712:Ttll6
|
APN |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably benign |
|
IGL02720:Ttll6
|
APN |
11 |
96,042,899 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02839:Ttll6
|
APN |
11 |
96,049,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02974:Ttll6
|
APN |
11 |
96,047,528 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03038:Ttll6
|
APN |
11 |
96,042,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03216:Ttll6
|
APN |
11 |
96,042,840 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03271:Ttll6
|
APN |
11 |
96,047,513 (GRCm39) |
missense |
probably benign |
0.00 |
LCD18:Ttll6
|
UTSW |
11 |
96,046,084 (GRCm39) |
intron |
probably benign |
|
R0295:Ttll6
|
UTSW |
11 |
96,045,540 (GRCm39) |
missense |
probably benign |
0.09 |
R0310:Ttll6
|
UTSW |
11 |
96,038,382 (GRCm39) |
missense |
probably benign |
0.41 |
R0466:Ttll6
|
UTSW |
11 |
96,036,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R0533:Ttll6
|
UTSW |
11 |
96,045,582 (GRCm39) |
missense |
probably benign |
0.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Ttll6
|
UTSW |
11 |
96,049,714 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1555:Ttll6
|
UTSW |
11 |
96,036,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
R1861:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
R1998:Ttll6
|
UTSW |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably null |
|
R2034:Ttll6
|
UTSW |
11 |
96,026,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R2126:Ttll6
|
UTSW |
11 |
96,038,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Ttll6
|
UTSW |
11 |
96,024,747 (GRCm39) |
missense |
probably benign |
0.00 |
R4684:Ttll6
|
UTSW |
11 |
96,044,003 (GRCm39) |
missense |
probably benign |
|
R4747:Ttll6
|
UTSW |
11 |
96,036,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4771:Ttll6
|
UTSW |
11 |
96,024,655 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4955:Ttll6
|
UTSW |
11 |
96,029,615 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5042:Ttll6
|
UTSW |
11 |
96,045,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5910:Ttll6
|
UTSW |
11 |
96,026,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5951:Ttll6
|
UTSW |
11 |
96,036,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6134:Ttll6
|
UTSW |
11 |
96,030,568 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6263:Ttll6
|
UTSW |
11 |
96,047,371 (GRCm39) |
missense |
probably benign |
|
R6325:Ttll6
|
UTSW |
11 |
96,026,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Ttll6
|
UTSW |
11 |
96,047,414 (GRCm39) |
missense |
probably benign |
0.05 |
R6453:Ttll6
|
UTSW |
11 |
96,049,553 (GRCm39) |
missense |
probably benign |
0.00 |
R7481:Ttll6
|
UTSW |
11 |
96,045,672 (GRCm39) |
missense |
probably benign |
|
R7574:Ttll6
|
UTSW |
11 |
96,025,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R8130:Ttll6
|
UTSW |
11 |
96,047,425 (GRCm39) |
missense |
probably benign |
0.05 |
R8771:Ttll6
|
UTSW |
11 |
96,042,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Ttll6
|
UTSW |
11 |
96,047,492 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9452:Ttll6
|
UTSW |
11 |
96,026,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Ttll6
|
UTSW |
11 |
96,049,588 (GRCm39) |
missense |
probably benign |
0.01 |
R9581:Ttll6
|
UTSW |
11 |
96,049,572 (GRCm39) |
missense |
probably benign |
0.31 |
X0022:Ttll6
|
UTSW |
11 |
96,049,567 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Ttll6
|
UTSW |
11 |
96,025,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAAGGTGTGTCTTGTCCCCTC -3'
(R):5'- TCAGCCATTTGAGGGAGAGG -3'
Sequencing Primer
(F):5'- GTCCCCTCCCTGCTGTGATAG -3'
(R):5'- CCATTTGAGGGAGAGGTCGGC -3'
|
Posted On |
2018-07-23 |