Incidental Mutation 'R6501:Ttll13'
ID |
519728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll13
|
Ensembl Gene |
ENSMUSG00000045467 |
Gene Name |
tubulin tyrosine ligase-like family, member 13 |
Synonyms |
1700111A04Rik |
MMRRC Submission |
044633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R6501 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79896124-79910569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79899924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 119
(T119A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058266]
[ENSMUST00000205270]
|
AlphaFold |
A4Q9F6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058266
AA Change: T119A
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062795 Gene: ENSMUSG00000045467 AA Change: T119A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.4e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107381
|
SMART Domains |
Protein: ENSMUSP00000103004 Gene: ENSMUSG00000045467
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.5e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133958
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205270
AA Change: T88A
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206240
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
Ada |
A |
G |
2: 163,570,108 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
Pde4d |
A |
T |
13: 109,253,476 (GRCm39) |
H101L |
probably benign |
Het |
Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
Prpf6 |
T |
A |
2: 181,263,713 (GRCm39) |
L191* |
probably null |
Het |
Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
Sec14l1 |
A |
G |
11: 117,047,676 (GRCm39) |
S698G |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,246,765 (GRCm39) |
H289L |
probably benign |
Het |
Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,590,978 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ttll13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Ttll13
|
APN |
7 |
79,909,297 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01289:Ttll13
|
APN |
7 |
79,910,187 (GRCm39) |
missense |
probably benign |
|
IGL02026:Ttll13
|
APN |
7 |
79,910,127 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02816:Ttll13
|
APN |
7 |
79,902,842 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0345:Ttll13
|
UTSW |
7 |
79,897,084 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Ttll13
|
UTSW |
7 |
79,910,253 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0491:Ttll13
|
UTSW |
7 |
79,910,098 (GRCm39) |
missense |
probably benign |
|
R1779:Ttll13
|
UTSW |
7 |
79,910,256 (GRCm39) |
missense |
probably benign |
0.33 |
R1983:Ttll13
|
UTSW |
7 |
79,903,364 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2218:Ttll13
|
UTSW |
7 |
79,902,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Ttll13
|
UTSW |
7 |
79,899,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R4496:Ttll13
|
UTSW |
7 |
79,906,667 (GRCm39) |
missense |
probably benign |
0.08 |
R4736:Ttll13
|
UTSW |
7 |
79,898,024 (GRCm39) |
splice site |
probably null |
|
R5330:Ttll13
|
UTSW |
7 |
79,910,257 (GRCm39) |
missense |
probably benign |
0.33 |
R5930:Ttll13
|
UTSW |
7 |
79,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Ttll13
|
UTSW |
7 |
79,904,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6060:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Ttll13
|
UTSW |
7 |
79,909,981 (GRCm39) |
missense |
probably benign |
0.18 |
R6256:Ttll13
|
UTSW |
7 |
79,908,052 (GRCm39) |
missense |
probably benign |
0.00 |
R6901:Ttll13
|
UTSW |
7 |
79,899,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Ttll13
|
UTSW |
7 |
79,906,778 (GRCm39) |
missense |
probably null |
0.53 |
R7127:Ttll13
|
UTSW |
7 |
79,903,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7217:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Ttll13
|
UTSW |
7 |
79,906,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7453:Ttll13
|
UTSW |
7 |
79,910,182 (GRCm39) |
missense |
probably benign |
|
R7579:Ttll13
|
UTSW |
7 |
79,907,981 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Ttll13
|
UTSW |
7 |
79,902,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Ttll13
|
UTSW |
7 |
79,903,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Ttll13
|
UTSW |
7 |
79,905,135 (GRCm39) |
missense |
probably benign |
0.02 |
R8122:Ttll13
|
UTSW |
7 |
79,909,217 (GRCm39) |
missense |
probably benign |
0.16 |
R8739:Ttll13
|
UTSW |
7 |
79,902,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R9124:Ttll13
|
UTSW |
7 |
79,906,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R9154:Ttll13
|
UTSW |
7 |
79,897,182 (GRCm39) |
missense |
probably benign |
|
R9157:Ttll13
|
UTSW |
7 |
79,904,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9572:Ttll13
|
UTSW |
7 |
79,908,008 (GRCm39) |
missense |
probably benign |
0.09 |
Z1189:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGCCTTCACAATCTGCTG -3'
(R):5'- GTGTGCCCACCAAACACTTC -3'
Sequencing Primer
(F):5'- CACAATCTGCTGTCTGGTCAGG -3'
(R):5'- TTTATTGGAGCAGAAGACCTGG -3'
|
Posted On |
2018-06-06 |