Incidental Mutation 'R0865:Ttll10'
| ID |
82293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll10
|
| Ensembl Gene |
ENSMUSG00000029074 |
| Gene Name |
tubulin tyrosine ligase-like family, member 10 |
| Synonyms |
4833412E22Rik, 4930595O22Rik, Ttll5 |
| MMRRC Submission |
039039-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156119292-156135274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156128135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 391
(L391P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051509]
[ENSMUST00000184348]
[ENSMUST00000184684]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000030951
|
| SMART Domains |
Protein: ENSMUSP00000030951
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051509
AA Change: L362P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: L362P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
189 |
507 |
1.8e-48 |
PFAM |
|
low complexity region
|
541 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097731
|
| SMART Domains |
Protein: ENSMUSP00000095337
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153649
|
| SMART Domains |
Protein: ENSMUSP00000116933
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183563
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184348
AA Change: L391P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: L391P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
218 |
536 |
7.9e-48 |
PFAM |
|
low complexity region
|
570 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184684
AA Change: L273P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074
AA Change: L273P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
100 |
418 |
2.5e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184750
|
| Meta Mutation Damage Score |
0.8035 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
| Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
| Gga3 |
A |
T |
11: 115,483,285 (GRCm39) |
N91K |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
A |
G |
8: 129,436,732 (GRCm39) |
|
probably null |
Het |
| Kank4 |
A |
T |
4: 98,662,900 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
| Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
| Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
| Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
| Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
| Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
| Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
| Tmem63b |
T |
C |
17: 45,972,445 (GRCm39) |
I721V |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
| Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,528 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,741,415 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ttll10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Ttll10
|
APN |
4 |
156,131,351 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02109:Ttll10
|
APN |
4 |
156,131,937 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Ttll10
|
APN |
4 |
156,132,890 (GRCm39) |
missense |
probably benign |
0.04 |
|
F6893:Ttll10
|
UTSW |
4 |
156,132,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Ttll10
|
UTSW |
4 |
156,119,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0502:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Ttll10
|
UTSW |
4 |
156,129,818 (GRCm39) |
nonsense |
probably null |
|
|
R0907:Ttll10
|
UTSW |
4 |
156,120,621 (GRCm39) |
nonsense |
probably null |
|
|
R1125:Ttll10
|
UTSW |
4 |
156,119,495 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1555:Ttll10
|
UTSW |
4 |
156,119,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1797:Ttll10
|
UTSW |
4 |
156,132,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3899:Ttll10
|
UTSW |
4 |
156,120,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Ttll10
|
UTSW |
4 |
156,133,018 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5715:Ttll10
|
UTSW |
4 |
156,129,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Ttll10
|
UTSW |
4 |
156,119,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5814:Ttll10
|
UTSW |
4 |
156,132,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5958:Ttll10
|
UTSW |
4 |
156,120,523 (GRCm39) |
splice site |
probably null |
|
|
R5994:Ttll10
|
UTSW |
4 |
156,133,189 (GRCm39) |
splice site |
probably null |
|
|
R6084:Ttll10
|
UTSW |
4 |
156,129,814 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7027:Ttll10
|
UTSW |
4 |
156,120,258 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7719:Ttll10
|
UTSW |
4 |
156,131,665 (GRCm39) |
splice site |
probably null |
|
|
R8010:Ttll10
|
UTSW |
4 |
156,131,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Ttll10
|
UTSW |
4 |
156,129,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8167:Ttll10
|
UTSW |
4 |
156,129,213 (GRCm39) |
missense |
probably null |
0.01 |
|
R8213:Ttll10
|
UTSW |
4 |
156,120,691 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8835:Ttll10
|
UTSW |
4 |
156,133,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ttll10
|
UTSW |
4 |
156,127,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Ttll10
|
UTSW |
4 |
156,119,503 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Ttll10
|
UTSW |
4 |
156,132,974 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ttll10
|
UTSW |
4 |
156,131,895 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGACTTCCCAGTCAGCCAATC -3'
(R):5'- TGGGGATGACAGATCTAGGCCAAC -3'
Sequencing Primer
(F):5'- CCCATTAATTAGGCATTTGGTCAGC -3'
(R):5'- AGTTTGATGTGCGCTCCTAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation