Incidental Mutation 'R0689:Ttll9'
| ID |
61265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
038874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R0689 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152825047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 75
(D75E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000155631]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099197
AA Change: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: D75E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103155
AA Change: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: D75E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
67 |
397 |
5.3e-88 |
PFAM |
|
low complexity region
|
452 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109801
AA Change: D75E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: D75E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
68 |
222 |
4.8e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152158
AA Change: D75E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155631
AA Change: D64E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: D64E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
| Meta Mutation Damage Score |
0.1271 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.1%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
A |
7: 28,596,474 (GRCm39) |
G674W |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,130,668 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,623,224 (GRCm39) |
V3800I |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,587,277 (GRCm39) |
Y93H |
probably damaging |
Het |
| Aldh1a3 |
T |
A |
7: 66,051,753 (GRCm39) |
D400V |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,796,411 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,832,073 (GRCm39) |
R745L |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,172,019 (GRCm39) |
T185S |
possibly damaging |
Het |
| Cep85l |
G |
T |
10: 53,224,943 (GRCm39) |
D215E |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,055,035 (GRCm39) |
S221P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,668 (GRCm39) |
V138M |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,619,421 (GRCm39) |
F1714I |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,812 (GRCm39) |
L279P |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,659,840 (GRCm39) |
Q723* |
probably null |
Het |
| Dnaja2 |
A |
G |
8: 86,273,347 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,468,450 (GRCm39) |
V162A |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,597,547 (GRCm39) |
T3A |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,761,981 (GRCm39) |
W424R |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,242,392 (GRCm39) |
|
probably null |
Het |
| Fam120a |
T |
C |
13: 49,121,114 (GRCm39) |
D64G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gas8 |
T |
G |
8: 124,250,845 (GRCm39) |
L106R |
probably damaging |
Het |
| Gykl1 |
T |
G |
18: 52,827,123 (GRCm39) |
N110K |
possibly damaging |
Het |
| Hsd3b3 |
G |
T |
3: 98,649,295 (GRCm39) |
L343I |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,024,098 (GRCm39) |
S234T |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,065,259 (GRCm39) |
I61F |
possibly damaging |
Het |
| Klf6 |
T |
A |
13: 5,915,115 (GRCm39) |
S185T |
probably damaging |
Het |
| Klk1b1 |
A |
C |
7: 43,620,143 (GRCm39) |
K202T |
probably benign |
Het |
| Liph |
T |
C |
16: 21,786,818 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,783,400 (GRCm39) |
D574N |
probably damaging |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,562 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,194 (GRCm39) |
N355K |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,689 (GRCm39) |
F150I |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,370 (GRCm39) |
T500A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,033 (GRCm39) |
I4169V |
unknown |
Het |
| Pde4d |
T |
C |
13: 109,877,078 (GRCm39) |
S144P |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,523,191 (GRCm39) |
Y157H |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,674,947 (GRCm39) |
|
probably null |
Het |
| Ppp1r14d |
T |
C |
2: 119,060,093 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
T |
4: 102,823,449 (GRCm39) |
D690V |
probably damaging |
Het |
| Skp1 |
T |
C |
11: 52,134,592 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,141,837 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,146,846 (GRCm39) |
|
probably benign |
Het |
| Snx6 |
A |
T |
12: 54,810,441 (GRCm39) |
S112T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,085,786 (GRCm39) |
V685A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,461 (GRCm39) |
V163E |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,711,253 (GRCm39) |
|
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,090,536 (GRCm39) |
Y224H |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,339,879 (GRCm39) |
N173D |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,630,300 (GRCm39) |
|
noncoding transcript |
Het |
| Triobp |
A |
T |
15: 78,844,188 (GRCm39) |
K135* |
probably null |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,609 (GRCm39) |
I8V |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,782 (GRCm39) |
S595P |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,234 (GRCm39) |
Q504* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,791,734 (GRCm39) |
D103G |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,553,142 (GRCm39) |
K198R |
probably benign |
Het |
| Zfp64 |
C |
A |
2: 168,777,121 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttll9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Ttll9
|
APN |
2 |
152,826,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01107:Ttll9
|
APN |
2 |
152,844,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL01365:Ttll9
|
APN |
2 |
152,842,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01751:Ttll9
|
APN |
2 |
152,825,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02264:Ttll9
|
APN |
2 |
152,842,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Ttll9
|
APN |
2 |
152,842,117 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02899:Ttll9
|
APN |
2 |
152,844,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
BB011:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
I2288:Ttll9
|
UTSW |
2 |
152,814,259 (GRCm39) |
splice site |
probably benign |
|
|
R0053:Ttll9
|
UTSW |
2 |
152,804,426 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0116:Ttll9
|
UTSW |
2 |
152,825,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0319:Ttll9
|
UTSW |
2 |
152,842,018 (GRCm39) |
splice site |
probably null |
|
|
R0388:Ttll9
|
UTSW |
2 |
152,842,099 (GRCm39) |
missense |
probably benign |
|
|
R0556:Ttll9
|
UTSW |
2 |
152,815,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1829:Ttll9
|
UTSW |
2 |
152,842,156 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2016:Ttll9
|
UTSW |
2 |
152,844,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Ttll9
|
UTSW |
2 |
152,844,927 (GRCm39) |
missense |
probably benign |
|
|
R2229:Ttll9
|
UTSW |
2 |
152,824,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2309:Ttll9
|
UTSW |
2 |
152,826,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Ttll9
|
UTSW |
2 |
152,825,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4191:Ttll9
|
UTSW |
2 |
152,844,927 (GRCm39) |
missense |
probably benign |
|
|
R4539:Ttll9
|
UTSW |
2 |
152,836,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Ttll9
|
UTSW |
2 |
152,844,920 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5115:Ttll9
|
UTSW |
2 |
152,831,510 (GRCm39) |
intron |
probably benign |
|
|
R5279:Ttll9
|
UTSW |
2 |
152,804,464 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5342:Ttll9
|
UTSW |
2 |
152,833,572 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5375:Ttll9
|
UTSW |
2 |
152,826,144 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5417:Ttll9
|
UTSW |
2 |
152,844,912 (GRCm39) |
missense |
probably benign |
|
|
R5555:Ttll9
|
UTSW |
2 |
152,832,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5574:Ttll9
|
UTSW |
2 |
152,826,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5598:Ttll9
|
UTSW |
2 |
152,826,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Ttll9
|
UTSW |
2 |
152,815,521 (GRCm39) |
frame shift |
probably null |
|
|
R6366:Ttll9
|
UTSW |
2 |
152,833,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Ttll9
|
UTSW |
2 |
152,841,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6655:Ttll9
|
UTSW |
2 |
152,842,223 (GRCm39) |
splice site |
probably null |
|
|
R6657:Ttll9
|
UTSW |
2 |
152,826,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Ttll9
|
UTSW |
2 |
152,841,220 (GRCm39) |
nonsense |
probably null |
|
|
R7012:Ttll9
|
UTSW |
2 |
152,844,982 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7162:Ttll9
|
UTSW |
2 |
152,831,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7804:Ttll9
|
UTSW |
2 |
152,844,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7862:Ttll9
|
UTSW |
2 |
152,848,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7924:Ttll9
|
UTSW |
2 |
152,804,407 (GRCm39) |
unclassified |
probably benign |
|
|
R7998:Ttll9
|
UTSW |
2 |
152,833,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8041:Ttll9
|
UTSW |
2 |
152,844,956 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8367:Ttll9
|
UTSW |
2 |
152,836,068 (GRCm39) |
missense |
probably benign |
|
|
R8897:Ttll9
|
UTSW |
2 |
152,844,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9061:Ttll9
|
UTSW |
2 |
152,818,113 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9667:Ttll9
|
UTSW |
2 |
152,831,989 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Ttll9
|
UTSW |
2 |
152,818,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Ttll9
|
UTSW |
2 |
152,836,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACAGGGGTGATCAGTCTATTGAG -3'
(R):5'- TGGGAATACCTGAACCCTAGAAAAGCC -3'
Sequencing Primer
(F):5'- CAGTCTATTGAGAAGGCACTCTG -3'
(R):5'- gccgttatctgctatgccatc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation