Incidental Mutation 'RF015:Ttll7'
| ID |
603458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll7
|
| Ensembl Gene |
ENSMUSG00000036745 |
| Gene Name |
tubulin tyrosine ligase-like family, member 7 |
| Synonyms |
1110049N09Rik, 4921517B04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.538)
|
| Stock # |
RF015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146685413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 882
(F882L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037942]
[ENSMUST00000106134]
[ENSMUST00000170055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037942
AA Change: F882L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106134
AA Change: F857L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: F857L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
84 |
388 |
7.2e-80 |
PFAM |
|
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170055
AA Change: F862L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: F862L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
84 |
388 |
5.9e-80 |
PFAM |
|
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,824 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,822 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,819 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
GAA |
G |
5: 8,946,594 (GRCm39) |
|
probably null |
Het |
| Agap1 |
T |
A |
1: 89,561,985 (GRCm39) |
Y214* |
probably null |
Het |
| Arhgap17 |
CTGTTGTTG |
CTGTTG |
7: 122,886,085 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGGC |
A |
4: 133,480,142 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,457,297 (GRCm39) |
F82L |
probably damaging |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAGTATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGGGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,345,221 (GRCm39) |
F683L |
probably benign |
Het |
| Cep131 |
CTGTTGTT |
CTGTTGTTGTT |
11: 119,963,794 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
GGAGGAGGAGGAG |
GGAGGAGGAGGAGGAG |
5: 123,392,305 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
TCTCA |
T |
5: 123,412,224 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCGGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GACACA |
GACACAGTGCCCAAGGATGTGACATACACA |
9: 86,922,485 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CTGCCCAGGGA |
CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
| Cyria |
T |
A |
12: 12,419,939 (GRCm39) |
S294R |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,895,141 (GRCm39) |
D3557N |
probably damaging |
Het |
| Dnmt1 |
GGAGCACAGTTCCTACCTCGTT |
GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT |
9: 20,821,420 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
| Gatad1 |
A |
T |
5: 3,697,523 (GRCm39) |
C33S |
possibly damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,374,476 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Hsdl2 |
GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,640 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
AGCACATTG |
AGCACATTGCGCACATTG |
6: 145,119,509 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCCAC |
TGCCACTGCTGCGGCCAC |
3: 92,925,455 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,447 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
GGACAAGCTGTGAGTTGGGGAACCCGGGAG |
GG |
13: 102,875,755 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
T |
A |
15: 103,927,696 (GRCm39) |
N87I |
probably benign |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
C |
2: 31,924,718 (GRCm39) |
V1749A |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,719,255 (GRCm39) |
I194V |
probably damaging |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,855 (GRCm39) |
N417Y |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,565,283 (GRCm39) |
L16F |
unknown |
Het |
| Pik3c2g |
T |
A |
6: 139,700,497 (GRCm39) |
N262K |
|
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
| Rnf41 |
C |
T |
10: 128,271,279 (GRCm39) |
A63V |
probably benign |
Het |
| Sirt1 |
C |
T |
10: 63,172,795 (GRCm39) |
A163T |
probably damaging |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Skor2 |
A |
G |
18: 76,948,483 (GRCm39) |
E735G |
probably damaging |
Het |
| Slc26a8 |
TCTCTGGCTCTGGCTCTGGCTCTGGCTC |
TCTCTGGCTCTGGCTCTGGCTC |
17: 28,857,315 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
TTCG |
6: 146,754,161 (GRCm39) |
|
probably benign |
Het |
| Strada |
A |
G |
11: 106,061,846 (GRCm39) |
I172T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,252,248 (GRCm39) |
I2469V |
probably benign |
Het |
| Tcof1 |
C |
CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA |
18: 60,966,656 (GRCm39) |
|
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
| Usp2 |
TGTGACCTGTTCTTCACTTAC |
TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC |
9: 44,000,406 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
A |
G |
11: 93,776,287 (GRCm39) |
L66P |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,371,405 (GRCm39) |
E186K |
possibly damaging |
Het |
| Zfp384 |
AGGCCCAGGCCC |
AGGCCCAGGCCCCGGCCCAGGCCC |
6: 125,013,444 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,356,882 (GRCm39) |
I703V |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,920,338 (GRCm39) |
H609R |
probably benign |
Het |
|
| Other mutations in Ttll7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Ttll7
|
APN |
3 |
146,615,337 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01353:Ttll7
|
APN |
3 |
146,667,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Ttll7
|
APN |
3 |
146,615,354 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01843:Ttll7
|
APN |
3 |
146,645,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03101:Ttll7
|
APN |
3 |
146,602,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03378:Ttll7
|
APN |
3 |
146,615,408 (GRCm39) |
missense |
probably benign |
0.06 |
|
P0038:Ttll7
|
UTSW |
3 |
146,650,939 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0265:Ttll7
|
UTSW |
3 |
146,649,915 (GRCm39) |
nonsense |
probably null |
|
|
R0358:Ttll7
|
UTSW |
3 |
146,649,871 (GRCm39) |
missense |
probably benign |
|
|
R0363:Ttll7
|
UTSW |
3 |
146,649,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Ttll7
|
UTSW |
3 |
146,650,936 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0751:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Ttll7
|
UTSW |
3 |
146,602,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Ttll7
|
UTSW |
3 |
146,600,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Ttll7
|
UTSW |
3 |
146,621,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Ttll7
|
UTSW |
3 |
146,621,550 (GRCm39) |
splice site |
probably benign |
|
|
R1995:Ttll7
|
UTSW |
3 |
146,667,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2083:Ttll7
|
UTSW |
3 |
146,635,859 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2152:Ttll7
|
UTSW |
3 |
146,635,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Ttll7
|
UTSW |
3 |
146,653,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ttll7
|
UTSW |
3 |
146,636,170 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Ttll7
|
UTSW |
3 |
146,599,932 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4999:Ttll7
|
UTSW |
3 |
146,600,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Ttll7
|
UTSW |
3 |
146,667,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:Ttll7
|
UTSW |
3 |
146,649,847 (GRCm39) |
nonsense |
probably null |
|
|
R6009:Ttll7
|
UTSW |
3 |
146,640,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Ttll7
|
UTSW |
3 |
146,645,917 (GRCm39) |
missense |
probably benign |
|
|
R6036:Ttll7
|
UTSW |
3 |
146,645,917 (GRCm39) |
missense |
probably benign |
|
|
R6463:Ttll7
|
UTSW |
3 |
146,637,337 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6747:Ttll7
|
UTSW |
3 |
146,649,811 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6922:Ttll7
|
UTSW |
3 |
146,615,369 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7123:Ttll7
|
UTSW |
3 |
146,619,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7211:Ttll7
|
UTSW |
3 |
146,619,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8229:Ttll7
|
UTSW |
3 |
146,607,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8406:Ttll7
|
UTSW |
3 |
146,645,779 (GRCm39) |
missense |
probably benign |
|
|
R9343:Ttll7
|
UTSW |
3 |
146,667,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Ttll7
|
UTSW |
3 |
146,673,768 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9629:Ttll7
|
UTSW |
3 |
146,621,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Ttll7
|
UTSW |
3 |
146,615,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ttll7
|
UTSW |
3 |
146,667,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ttll7
|
UTSW |
3 |
146,653,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,653,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,635,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,621,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGATGATCCTAACTTCACGTG -3'
(R):5'- TAAGGGTCACTTCCTTAAGGTTC -3'
Sequencing Primer
(F):5'- CAACTTTCTGGAGTTCAGTGTTAGC -3'
(R):5'- GTCACTTCCTTAAGGTTCAACTGGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation