Incidental Mutation 'R8119:Ttll5'
| ID |
631409 |
| 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 |
067548-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.716)
|
| Stock # |
R8119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86067322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1270
(N1270K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
| AlphaFold |
Q8CHB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040179
AA Change: N1270K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: N1270K
| 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: N1270K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: N1270K
| 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 |
possibly damaging
Transcript: ENSMUST00000110224
AA Change: N1256K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: N1256K
| 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 benign
Transcript: ENSMUST00000155448
|
| SMART Domains |
Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134934
Gene: ENSMUSG00000012609
AA Change: N238K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176695
|
| SMART Domains |
Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177114
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: N736K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177525
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,087,930 (GRCm39) |
I1066V |
probably benign |
Het |
| Abcd2 |
T |
C |
15: 91,033,197 (GRCm39) |
T740A |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,094,852 (GRCm39) |
L117P |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,686,160 (GRCm39) |
S1347T |
probably damaging |
Het |
| Apol7e |
T |
C |
15: 77,601,956 (GRCm39) |
S185P |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,942,734 (GRCm39) |
C2088Y |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,851,825 (GRCm39) |
S205G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,704,672 (GRCm39) |
I2803V |
unknown |
Het |
| Cfh |
A |
C |
1: 140,047,753 (GRCm39) |
F477V |
possibly damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,056 (GRCm39) |
V144A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 17,077,310 (GRCm39) |
S116P |
probably damaging |
Het |
| Dgkd |
A |
T |
1: 87,845,689 (GRCm39) |
T299S |
possibly damaging |
Het |
| Fam20b |
T |
G |
1: 156,518,072 (GRCm39) |
T241P |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,493 (GRCm39) |
M925K |
probably benign |
Het |
| Ftdc1 |
C |
A |
16: 58,437,211 (GRCm39) |
M32I |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,299,607 (GRCm39) |
R987Q |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,316 (GRCm39) |
V226A |
probably damaging |
Het |
| Lypd2 |
A |
G |
15: 74,604,881 (GRCm39) |
V38A |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,909,156 (GRCm39) |
R265G |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,601,500 (GRCm39) |
V610M |
possibly damaging |
Het |
| Mocs1 |
C |
T |
17: 49,756,547 (GRCm39) |
R244C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,103,232 (GRCm39) |
T677A |
probably damaging |
Het |
| Ngp |
A |
G |
9: 110,251,421 (GRCm39) |
N150D |
probably benign |
Het |
| Nipbl |
C |
T |
15: 8,388,696 (GRCm39) |
R308Q |
probably benign |
Het |
| Nsrp1 |
A |
G |
11: 76,939,177 (GRCm39) |
|
probably null |
Het |
| Or2y16 |
A |
T |
11: 49,334,953 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,908 (GRCm39) |
I206N |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,061 (GRCm39) |
I51F |
probably damaging |
Het |
| Pbld2 |
A |
T |
10: 62,889,656 (GRCm39) |
D146V |
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,213,701 (GRCm39) |
K197* |
probably null |
Het |
| Ptprd |
G |
T |
4: 76,047,263 (GRCm39) |
S87R |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slc25a35 |
T |
C |
11: 68,862,798 (GRCm39) |
L251S |
probably benign |
Het |
| Slx4 |
A |
T |
16: 3,803,136 (GRCm39) |
L1226* |
probably null |
Het |
| Smarca4 |
T |
C |
9: 21,558,922 (GRCm39) |
V651A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,071,303 (GRCm39) |
F583L |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,526 (GRCm39) |
K932E |
probably benign |
Het |
| Trav8d-1 |
A |
T |
14: 53,016,425 (GRCm39) |
T104S |
probably benign |
Het |
| Trmt9b |
G |
A |
8: 36,965,576 (GRCm39) |
W32* |
probably null |
Het |
| Trpm4 |
A |
T |
7: 44,976,552 (GRCm39) |
V155D |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,752,429 (GRCm39) |
Y1445F |
possibly damaging |
Het |
| Usp40 |
G |
T |
1: 87,895,400 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,690 (GRCm39) |
M1V |
probably null |
Het |
| Wwox |
T |
C |
8: 115,433,108 (GRCm39) |
V258A |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp770 |
G |
A |
2: 114,027,508 (GRCm39) |
T187I |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,241,969 (GRCm39) |
|
probably null |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,267 (GRCm39) |
Q75R |
probably 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 |
|
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 |
|
R8457:Ttll5
|
UTSW |
12 |
85,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTGTTGGTGAAAGACGTCATCTG -3'
(R):5'- ACCAATGCTTTCAAGGCCTGG -3'
Sequencing Primer
(F):5'- AGACGTCATCTGTAGGCATTTGAC -3'
(R):5'- CAAGGCCTGGGCATTTGTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation