Incidental Mutation 'R5574:Ttll9'
| ID |
437092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
043129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152826168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 126
(E126G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000155631]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099197
AA Change: E126G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: E126G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103155
AA Change: E126G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: E126G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
67 |
397 |
5.3e-88 |
PFAM |
|
low complexity region
|
452 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109801
AA Change: E126G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: E126G
| 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
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155631
AA Change: E115G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: E115G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
57 |
139 |
3.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165343
|
| Meta Mutation Damage Score |
0.0975 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
| Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
| Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc171 |
A |
T |
4: 83,611,990 (GRCm39) |
N895I |
probably damaging |
Het |
| Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
| Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
| Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
| Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
| Dync1i2 |
A |
T |
2: 71,063,994 (GRCm39) |
T113S |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
| Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
| Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
| Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
| Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
| Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,318,131 (GRCm39) |
V877D |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
| Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
| Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,280,942 (GRCm39) |
F447L |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
| Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
| Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
| Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
| Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
| Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
| Unc45a |
G |
A |
7: 79,984,604 (GRCm39) |
A232V |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
| Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
possibly damaging |
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 |
|
|
R0689:Ttll9
|
UTSW |
2 |
152,825,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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'- TTTCTAAATAGAAGTGGGCAAGGC -3'
(R):5'- AGCTCAAGCAGGACATGTACG -3'
Sequencing Primer
(F):5'- TGGGCAAGGCAGGGCAC -3'
(R):5'- ACATGTACGGCATAGTTCCG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation