Incidental Mutation 'R9348:Ttll7'
| ID |
707906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll7
|
| Ensembl Gene |
ENSMUSG00000036745 |
| Gene Name |
tubulin tyrosine ligase-like family, member 7 |
| Synonyms |
1110049N09Rik, 4921517B04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.538)
|
| Stock # |
R9348 (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 146673768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 821
(I821N)
|
| 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: I821N
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106134
AA Change: I796N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: I796N
| 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 |
possibly damaging
Transcript: ENSMUST00000170055
AA Change: I801N
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: I801N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
C |
T |
8: 41,208,953 (GRCm39) |
P740S |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,283,419 (GRCm39) |
H163Q |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,490,155 (GRCm39) |
T165A |
|
Het |
| BC034090 |
A |
G |
1: 155,099,049 (GRCm39) |
S579P |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,160,766 (GRCm39) |
S546T |
probably benign |
Het |
| C4b |
C |
T |
17: 34,952,159 (GRCm39) |
V1229I |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,262 (GRCm39) |
D895G |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,820,838 (GRCm39) |
S296P |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,076 (GRCm39) |
S51P |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,717,708 (GRCm39) |
H545R |
unknown |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
T |
A |
8: 70,951,316 (GRCm39) |
I65K |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,421,256 (GRCm39) |
M1V |
probably null |
Het |
| Cyb5d1 |
T |
A |
11: 69,285,830 (GRCm39) |
I69L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,337 (GRCm39) |
D213G |
probably benign |
Het |
| Dennd5a |
C |
G |
7: 109,498,930 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
A |
7: 109,498,942 (GRCm39) |
M998L |
probably benign |
Het |
| E2f1 |
T |
A |
2: 154,402,755 (GRCm39) |
E382D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,102,772 (GRCm39) |
T395S |
probably benign |
Het |
| Gm20939 |
A |
G |
17: 95,182,977 (GRCm39) |
E71G |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,386,273 (GRCm39) |
V225E |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,427 (GRCm39) |
M1T |
probably null |
Het |
| Ifi205 |
T |
C |
1: 173,844,997 (GRCm39) |
I262V |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,380 (GRCm39) |
Y147C |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kif3c |
A |
G |
12: 3,417,505 (GRCm39) |
T509A |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,875,490 (GRCm39) |
N351K |
probably benign |
Het |
| Ndufaf3 |
C |
A |
9: 108,443,357 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
C |
T |
7: 19,757,336 (GRCm39) |
T191I |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,921,789 (GRCm39) |
L233P |
probably damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,289 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or2g1 |
T |
C |
17: 38,106,992 (GRCm39) |
I219T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w1 |
T |
A |
13: 21,317,131 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Preb |
A |
G |
5: 31,112,995 (GRCm39) |
F416L |
probably benign |
Het |
| Prickle2 |
C |
T |
6: 92,397,243 (GRCm39) |
V217I |
probably benign |
Het |
| Prss45 |
T |
A |
9: 110,668,278 (GRCm39) |
I157N |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,429,232 (GRCm39) |
T338A |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,745,206 (GRCm39) |
F517S |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,719,671 (GRCm39) |
F578I |
probably damaging |
Het |
| Stx2 |
A |
T |
5: 129,076,601 (GRCm39) |
D27E |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,695 (GRCm39) |
I599T |
probably benign |
Het |
| Trim25 |
G |
T |
11: 88,900,167 (GRCm39) |
E305* |
probably null |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,954,186 (GRCm39) |
D23V |
|
Het |
| Zfp141 |
C |
A |
7: 42,124,814 (GRCm39) |
E553* |
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,315,231 (GRCm39) |
D1415G |
possibly damaging |
Het |
| Zpbp2 |
C |
T |
11: 98,442,141 (GRCm39) |
|
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 |
|
R9629:Ttll7
|
UTSW |
3 |
146,621,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Ttll7
|
UTSW |
3 |
146,685,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGTTGGTAGCACTCACAGC -3'
(R):5'- GTGAGACATACCTGGAGTTCC -3'
Sequencing Primer
(F):5'- GTTGGTAGCACTCACAGCCTTAAAG -3'
(R):5'- ATACCTGGAGTTCCCCCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation