Incidental Mutation 'R7998:Ttll9'
| ID |
616174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll9
|
| Ensembl Gene |
ENSMUSG00000074673 |
| Gene Name |
tubulin tyrosine ligase-like family, member 9 |
| Synonyms |
4930509O20Rik, 1700016F23Rik |
| MMRRC Submission |
046038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152804405-152850402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152833546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 215
(Y215H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099197]
[ENSMUST00000103155]
[ENSMUST00000109801]
[ENSMUST00000146626]
[ENSMUST00000152158]
[ENSMUST00000165343]
|
| AlphaFold |
A2APC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099197
AA Change: Y215H
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: Y215H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
69 |
397 |
2.2e-87 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103155
AA Change: Y215H
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: Y215H
| 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 damaging
Transcript: ENSMUST00000109801
AA Change: Y190H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: Y190H
| 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 |
silent
Transcript: ENSMUST00000165343
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,649 (GRCm39) |
R216C |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,671,988 (GRCm39) |
P294L |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,059,663 (GRCm39) |
Y572H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,959 (GRCm39) |
D1236G |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,192,419 (GRCm39) |
L254P |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,499 (GRCm39) |
L562R |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,250 (GRCm39) |
V1195A |
probably benign |
Het |
| Ciao2b |
T |
A |
8: 105,367,668 (GRCm39) |
S94C |
probably damaging |
Het |
| Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,753,751 (GRCm39) |
Q403P |
probably damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,328 (GRCm39) |
F1079Y |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,167,720 (GRCm39) |
Q724H |
possibly damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,265,766 (GRCm39) |
V351A |
probably damaging |
Het |
| G2e3 |
A |
T |
12: 51,400,624 (GRCm39) |
E59D |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm10837 |
G |
T |
14: 122,728,053 (GRCm39) |
|
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr18 |
T |
C |
14: 122,149,393 (GRCm39) |
I211V |
probably benign |
Het |
| Gstm7 |
T |
A |
3: 107,837,657 (GRCm39) |
D98V |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,715,810 (GRCm39) |
Y525C |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,770,020 (GRCm39) |
S55P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,394,909 (GRCm39) |
V1674A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,647,824 (GRCm39) |
G893C |
unknown |
Het |
| Kcnc1 |
A |
G |
7: 46,047,223 (GRCm39) |
D41G |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
| Leo1 |
G |
T |
9: 75,352,558 (GRCm39) |
G34C |
probably benign |
Het |
| Map4 |
G |
A |
9: 109,908,929 (GRCm39) |
V1050M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,214 (GRCm39) |
V722A |
probably benign |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,812 (GRCm39) |
F512S |
probably benign |
Het |
| Mix23 |
T |
A |
16: 35,905,403 (GRCm39) |
V65D |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,937,642 (GRCm39) |
V1147E |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,568,478 (GRCm39) |
E409G |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,551,188 (GRCm39) |
P5035Q |
probably benign |
Het |
| Nemp1 |
C |
A |
10: 127,529,358 (GRCm39) |
S213R |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,731,149 (GRCm39) |
Y360H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,559,905 (GRCm39) |
V1221A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,899 (GRCm39) |
F765L |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,983 (GRCm39) |
L991P |
probably damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,970 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,633 (GRCm39) |
M80L |
probably benign |
Het |
| Pla2g7 |
A |
T |
17: 43,922,209 (GRCm39) |
I363L |
probably benign |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,901 (GRCm39) |
F473S |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,428,965 (GRCm39) |
|
probably null |
Het |
| Ptov1 |
A |
G |
7: 44,514,353 (GRCm39) |
V263A |
probably damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,132 (GRCm39) |
V21A |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,750,764 (GRCm39) |
I550F |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,061,085 (GRCm39) |
W1133R |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,324,839 (GRCm39) |
L137P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,134,632 (GRCm39) |
V1297A |
probably damaging |
Het |
| Themis2 |
A |
G |
4: 132,519,875 (GRCm39) |
I50T |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,798,731 (GRCm39) |
L650F |
possibly damaging |
Het |
| Ttc41 |
C |
A |
10: 86,572,711 (GRCm39) |
N694K |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,733,653 (GRCm39) |
V4541L |
unknown |
Het |
| Usp32 |
G |
T |
11: 84,885,252 (GRCm39) |
A1265E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,446 (GRCm39) |
D838V |
probably damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,565 (GRCm39) |
I293T |
|
Het |
| Wdr36 |
T |
G |
18: 32,985,572 (GRCm39) |
D496E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,782,671 (GRCm39) |
N753S |
probably benign |
Het |
| Zmat3 |
T |
C |
3: 32,395,815 (GRCm39) |
R231G |
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 |
|
|
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 |
|
|
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'- TAAATGCCAATGTCCACATGTG -3'
(R):5'- GCAGAGTCACAGCTACAGGTAG -3'
Sequencing Primer
(F):5'- TAGGCTCTGGGATCGAACTAC -3'
(R):5'- TCACAGCTACAGGTAGGAGCATAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation