Incidental Mutation 'R0969:Ttll8'
| ID |
84002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll8
|
| Ensembl Gene |
ENSMUSG00000022388 |
| Gene Name |
tubulin tyrosine ligase-like family, member 8 |
| Synonyms |
1700019P01Rik |
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R0969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88818138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 179
(Y179C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
| AlphaFold |
A4Q9F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109371
AA Change: Y179C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: Y179C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
324 |
621 |
3.9e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177180
AA Change: I177M
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388
AA Change: I177M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177254
AA Change: I171M
|
| Meta Mutation Damage Score |
0.4736 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,461 (GRCm39) |
T169S |
probably damaging |
Het |
| Gpx3 |
T |
C |
11: 54,799,852 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 13,060,116 (GRCm39) |
A202T |
probably damaging |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
probably damaging |
Het |
|
| Other mutations in Ttll8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Ttll8
|
APN |
15 |
88,798,356 (GRCm39) |
missense |
probably benign |
|
|
IGL00895:Ttll8
|
APN |
15 |
88,817,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Ttll8
|
APN |
15 |
88,801,453 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01661:Ttll8
|
APN |
15 |
88,820,202 (GRCm39) |
splice site |
probably benign |
|
|
IGL01992:Ttll8
|
APN |
15 |
88,799,848 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02212:Ttll8
|
APN |
15 |
88,801,450 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02234:Ttll8
|
APN |
15 |
88,798,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02569:Ttll8
|
APN |
15 |
88,818,129 (GRCm39) |
nonsense |
probably null |
|
|
IGL02935:Ttll8
|
APN |
15 |
88,798,759 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03064:Ttll8
|
APN |
15 |
88,803,797 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1637:Ttll8
|
UTSW |
15 |
88,798,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1939:Ttll8
|
UTSW |
15 |
88,799,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Ttll8
|
UTSW |
15 |
88,798,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Ttll8
|
UTSW |
15 |
88,798,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ttll8
|
UTSW |
15 |
88,818,156 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2414:Ttll8
|
UTSW |
15 |
88,820,336 (GRCm39) |
splice site |
probably benign |
|
|
R2905:Ttll8
|
UTSW |
15 |
88,798,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4159:Ttll8
|
UTSW |
15 |
88,801,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4368:Ttll8
|
UTSW |
15 |
88,798,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4395:Ttll8
|
UTSW |
15 |
88,799,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4707:Ttll8
|
UTSW |
15 |
88,801,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4926:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4983:Ttll8
|
UTSW |
15 |
88,809,785 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5698:Ttll8
|
UTSW |
15 |
88,823,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5752:Ttll8
|
UTSW |
15 |
88,816,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Ttll8
|
UTSW |
15 |
88,801,449 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5889:Ttll8
|
UTSW |
15 |
88,818,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Ttll8
|
UTSW |
15 |
88,798,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6931:Ttll8
|
UTSW |
15 |
88,798,507 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7133:Ttll8
|
UTSW |
15 |
88,799,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7268:Ttll8
|
UTSW |
15 |
88,819,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Ttll8
|
UTSW |
15 |
88,801,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7502:Ttll8
|
UTSW |
15 |
88,817,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7580:Ttll8
|
UTSW |
15 |
88,818,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7978:Ttll8
|
UTSW |
15 |
88,799,565 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8074:Ttll8
|
UTSW |
15 |
88,799,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Ttll8
|
UTSW |
15 |
88,798,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8407:Ttll8
|
UTSW |
15 |
88,798,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8901:Ttll8
|
UTSW |
15 |
88,818,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ttll8
|
UTSW |
15 |
88,798,818 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9443:Ttll8
|
UTSW |
15 |
88,809,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0058:Ttll8
|
UTSW |
15 |
88,801,333 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCACTGAGAGTACCCAGAGAC -3'
(R):5'- TGGAGCCTTCAGCCAGAATCAAC -3'
Sequencing Primer
(F):5'- AGAAGCCTGTATGTGACCTTCTG -3'
(R):5'- CACAGTCTGTGTCCCACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation