Incidental Mutation 'R0358:Ttll7'
| ID |
29927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll7
|
| Ensembl Gene |
ENSMUSG00000036745 |
| Gene Name |
tubulin tyrosine ligase-like family, member 7 |
| Synonyms |
1110049N09Rik, 4921517B04Rik |
| MMRRC Submission |
038564-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.519)
|
| Stock # |
R0358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146649871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 634
(T634A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129369
(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: T659A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000038090
|
| SMART Domains |
Protein: ENSMUSP00000037875
Gene: ENSMUSG00000036745
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
84 |
388 |
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 |
|
low complexity region
|
591 |
601 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106134
AA Change: T634A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: T634A
| 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: T634A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: T634A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197547
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
| Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,142,219 (GRCm39) |
|
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
| Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
| Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
| Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
| Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
| Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
| Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
| Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,402,231 (GRCm39) |
I64N |
probably damaging |
Het |
| Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
| Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
| Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
| Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
| Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
| Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
| Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
| Psmd11 |
G |
A |
11: 80,353,510 (GRCm39) |
|
probably benign |
Het |
| Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
| Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
| S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
| Slc22a16 |
T |
G |
10: 40,463,488 (GRCm39) |
|
probably null |
Het |
| Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
| Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
probably damaging |
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 |
|
|
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 |
|
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'- ACCAGAACTTCTCTCCTAGCGATGG -3'
(R):5'- CCAACTGCATCGAGTACAGTGTTCC -3'
Sequencing Primer
(F):5'- CCACTGGGGTCTAAGCATTAGTC -3'
(R):5'- CAGTGTTCCTCAACTTCAGAAGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation