Incidental Mutation 'R8457:Ttll5'
| ID |
655079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll5
|
| Ensembl Gene |
ENSMUSG00000012609 |
| Gene Name |
tubulin tyrosine ligase-like family, member 5 |
| Synonyms |
1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik |
| MMRRC Submission |
067834-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R8457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85923352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 276
(S276R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000095536]
[ENSMUST00000110220]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
| AlphaFold |
Q8CHB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040179
AA Change: S276R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1.9e-94 |
PFAM |
|
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040273
AA Change: S276R
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
|
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095536
AA Change: S276R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.2e-95 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110220
AA Change: S276R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
348 |
3.5e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110224
AA Change: S276R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155448
AA Change: S276R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176695
AA Change: S276R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177114
AA Change: S276R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: S276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, other(3) Gene trapped(4) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
| Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
| E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
| Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
| Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
| Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
| Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
| Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
| Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
| Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
| Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
| Slc6a13 |
G |
A |
6: 121,303,063 (GRCm39) |
|
probably null |
Het |
| Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly damaging |
Het |
|
| Other mutations in Ttll5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Ttll5
|
APN |
12 |
85,890,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00932:Ttll5
|
APN |
12 |
85,976,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00964:Ttll5
|
APN |
12 |
85,896,057 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00978:Ttll5
|
APN |
12 |
85,980,256 (GRCm39) |
nonsense |
probably null |
|
|
IGL00990:Ttll5
|
APN |
12 |
85,923,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Ttll5
|
APN |
12 |
85,965,708 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01797:Ttll5
|
APN |
12 |
86,003,371 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02008:Ttll5
|
APN |
12 |
85,980,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Ttll5
|
APN |
12 |
85,959,319 (GRCm39) |
intron |
probably benign |
|
|
IGL02979:Ttll5
|
APN |
12 |
85,873,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Ttll5
|
APN |
12 |
85,923,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Ttll5
|
APN |
12 |
85,965,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
G4846:Ttll5
|
UTSW |
12 |
86,071,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4812001:Ttll5
|
UTSW |
12 |
85,973,635 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0045:Ttll5
|
UTSW |
12 |
85,926,133 (GRCm39) |
splice site |
probably benign |
|
|
R0153:Ttll5
|
UTSW |
12 |
85,878,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Ttll5
|
UTSW |
12 |
86,042,827 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0318:Ttll5
|
UTSW |
12 |
85,923,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0465:Ttll5
|
UTSW |
12 |
85,980,100 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0540:Ttll5
|
UTSW |
12 |
85,980,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1086:Ttll5
|
UTSW |
12 |
85,937,853 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1467:Ttll5
|
UTSW |
12 |
85,965,736 (GRCm39) |
splice site |
probably null |
|
|
R1470:Ttll5
|
UTSW |
12 |
85,926,168 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1470:Ttll5
|
UTSW |
12 |
85,926,168 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1505:Ttll5
|
UTSW |
12 |
85,926,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Ttll5
|
UTSW |
12 |
85,911,342 (GRCm39) |
nonsense |
probably null |
|
|
R1540:Ttll5
|
UTSW |
12 |
85,938,982 (GRCm39) |
nonsense |
probably null |
|
|
R1598:Ttll5
|
UTSW |
12 |
85,910,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1649:Ttll5
|
UTSW |
12 |
85,969,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Ttll5
|
UTSW |
12 |
85,980,176 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2340:Ttll5
|
UTSW |
12 |
85,938,922 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4049:Ttll5
|
UTSW |
12 |
86,059,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4094:Ttll5
|
UTSW |
12 |
86,003,376 (GRCm39) |
nonsense |
probably null |
|
|
R4095:Ttll5
|
UTSW |
12 |
86,003,376 (GRCm39) |
nonsense |
probably null |
|
|
R4908:Ttll5
|
UTSW |
12 |
85,965,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5012:Ttll5
|
UTSW |
12 |
85,973,618 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5137:Ttll5
|
UTSW |
12 |
85,969,819 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5416:Ttll5
|
UTSW |
12 |
86,059,602 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5773:Ttll5
|
UTSW |
12 |
85,980,329 (GRCm39) |
frame shift |
probably null |
|
|
R5774:Ttll5
|
UTSW |
12 |
85,980,329 (GRCm39) |
frame shift |
probably null |
|
|
R6039:Ttll5
|
UTSW |
12 |
85,878,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Ttll5
|
UTSW |
12 |
85,878,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Ttll5
|
UTSW |
12 |
85,980,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6343:Ttll5
|
UTSW |
12 |
86,003,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6449:Ttll5
|
UTSW |
12 |
86,071,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Ttll5
|
UTSW |
12 |
86,003,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6802:Ttll5
|
UTSW |
12 |
85,926,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Ttll5
|
UTSW |
12 |
85,930,102 (GRCm39) |
splice site |
probably null |
|
|
R6955:Ttll5
|
UTSW |
12 |
85,911,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7098:Ttll5
|
UTSW |
12 |
85,964,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7154:Ttll5
|
UTSW |
12 |
85,972,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7215:Ttll5
|
UTSW |
12 |
85,980,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7339:Ttll5
|
UTSW |
12 |
85,904,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7520:Ttll5
|
UTSW |
12 |
85,946,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Ttll5
|
UTSW |
12 |
86,003,406 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7894:Ttll5
|
UTSW |
12 |
85,935,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Ttll5
|
UTSW |
12 |
86,067,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8129:Ttll5
|
UTSW |
12 |
85,937,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8200:Ttll5
|
UTSW |
12 |
85,926,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Ttll5
|
UTSW |
12 |
85,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Ttll5
|
UTSW |
12 |
85,965,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9086:Ttll5
|
UTSW |
12 |
86,071,107 (GRCm39) |
missense |
probably benign |
|
|
R9086:Ttll5
|
UTSW |
12 |
85,964,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9265:Ttll5
|
UTSW |
12 |
85,937,795 (GRCm39) |
nonsense |
probably null |
|
|
R9293:Ttll5
|
UTSW |
12 |
85,937,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Ttll5
|
UTSW |
12 |
85,873,338 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9621:Ttll5
|
UTSW |
12 |
85,938,896 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGCAGCTGCCACTTAG -3'
(R):5'- AGCAATGCCTCAAAACTGATACTTG -3'
Sequencing Primer
(F):5'- TGCCACTTAGCAGAGATCAC -3'
(R):5'- TCAGCAGTTTAGAGCACTCACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation