Incidental Mutation 'R8129:Ttll5'
ID |
631922 |
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 |
067558-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.716)
|
Stock # |
R8129 (G1)
|
Quality Score |
88.0076 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 85937858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000095536]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
AlphaFold |
Q8CHB8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040179
|
SMART Domains |
Protein: ENSMUSP00000048809 Gene: ENSMUSG00000012609
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 |
probably null
Transcript: ENSMUST00000040273
|
SMART Domains |
Protein: ENSMUSP00000039939 Gene: ENSMUSG00000012609
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 null
Transcript: ENSMUST00000095536
|
SMART Domains |
Protein: ENSMUSP00000093192 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
407 |
2.2e-95 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110224
|
SMART Domains |
Protein: ENSMUSP00000105853 Gene: ENSMUSG00000012609
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 85.2%
|
Validation Efficiency |
98% (99/101) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
C |
2: 35,266,187 (GRCm39) |
D161G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,140,559 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
T |
19: 8,977,464 (GRCm39) |
M1L |
not run |
Het |
Appl1 |
A |
G |
14: 26,671,466 (GRCm39) |
S329P |
possibly damaging |
Het |
Bach1 |
C |
T |
16: 87,519,314 (GRCm39) |
R535W |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,915,033 (GRCm39) |
D77G |
probably benign |
Het |
Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
Cdhr2 |
G |
T |
13: 54,864,208 (GRCm39) |
|
probably null |
Het |
Col25a1 |
T |
C |
3: 130,290,050 (GRCm39) |
S247P |
probably damaging |
Het |
Commd8 |
T |
C |
5: 72,320,164 (GRCm39) |
M126V |
unknown |
Het |
Dpysl4 |
C |
T |
7: 138,666,076 (GRCm39) |
T13M |
probably benign |
Het |
Epc1 |
A |
G |
18: 6,439,634 (GRCm39) |
V776A |
possibly damaging |
Het |
Fancg |
G |
T |
4: 43,005,036 (GRCm39) |
|
probably null |
Het |
Fdx1 |
T |
C |
9: 51,859,926 (GRCm39) |
T135A |
probably benign |
Het |
Fgf7 |
T |
C |
2: 125,877,765 (GRCm39) |
V44A |
probably benign |
Het |
Fgfr3 |
A |
T |
5: 33,891,250 (GRCm39) |
M523L |
probably damaging |
Het |
Focad |
A |
T |
4: 88,151,000 (GRCm39) |
H548L |
unknown |
Het |
Ftsj3 |
C |
A |
11: 106,144,657 (GRCm39) |
V111F |
probably benign |
Het |
Gm28168 |
T |
A |
1: 117,857,483 (GRCm39) |
D12E |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,844 (GRCm39) |
T488A |
probably benign |
Het |
Hormad2 |
C |
A |
11: 4,296,648 (GRCm39) |
V279L |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,108,105 (GRCm39) |
K123E |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,754,320 (GRCm39) |
S589P |
probably benign |
Het |
Il1r1 |
T |
A |
1: 40,341,447 (GRCm39) |
H286Q |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,490,987 (GRCm39) |
C423S |
probably damaging |
Het |
L1td1 |
A |
T |
4: 98,621,563 (GRCm39) |
M42L |
probably benign |
Het |
Large1 |
T |
C |
8: 73,542,585 (GRCm39) |
D713G |
probably damaging |
Het |
Llgl2 |
C |
A |
11: 115,741,737 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,260,624 (GRCm39) |
V4536M |
possibly damaging |
Het |
Map3k19 |
A |
C |
1: 127,750,420 (GRCm39) |
L977R |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,399,026 (GRCm39) |
D1617V |
|
Het |
Nek3 |
A |
G |
8: 22,639,908 (GRCm39) |
I189T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,355,068 (GRCm39) |
|
probably null |
Het |
Omd |
A |
C |
13: 49,745,565 (GRCm39) |
D325A |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,939,210 (GRCm39) |
R92K |
probably benign |
Het |
Or4a76 |
C |
A |
2: 89,460,792 (GRCm39) |
G150V |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,584 (GRCm39) |
Y52C |
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,508 (GRCm39) |
Y16F |
probably damaging |
Het |
Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,094,832 (GRCm39) |
D447G |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,262,944 (GRCm39) |
W1032R |
probably damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,995,263 (GRCm39) |
Y524C |
probably benign |
Het |
Ppp4r3b |
T |
C |
11: 29,159,364 (GRCm39) |
Y573H |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,096,200 (GRCm39) |
I568T |
probably benign |
Het |
Ptpn22 |
G |
A |
3: 103,797,600 (GRCm39) |
|
probably null |
Het |
Rbm12b1 |
A |
G |
4: 12,145,549 (GRCm39) |
D507G |
probably damaging |
Het |
Rdh7 |
A |
G |
10: 127,723,370 (GRCm39) |
S162P |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,775 (GRCm39) |
A378V |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,317,350 (GRCm39) |
F738S |
probably damaging |
Het |
Sdk1 |
C |
A |
5: 142,177,648 (GRCm39) |
N2031K |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,118,056 (GRCm39) |
L94Q |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,381,834 (GRCm39) |
S333G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,822,658 (GRCm39) |
V88A |
possibly damaging |
Het |
Smarcad1 |
G |
T |
6: 65,044,078 (GRCm39) |
D217Y |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,765,390 (GRCm39) |
F244S |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,443,959 (GRCm39) |
D2156N |
possibly damaging |
Het |
Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
Tap2 |
C |
T |
17: 34,424,672 (GRCm39) |
T135I |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,161,254 (GRCm39) |
V20F |
probably damaging |
Het |
Tes |
A |
T |
6: 17,065,242 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
Trim44 |
A |
G |
2: 102,230,848 (GRCm39) |
V61A |
unknown |
Het |
Tubgcp4 |
C |
T |
2: 121,004,109 (GRCm39) |
T50I |
possibly damaging |
Het |
Txndc17 |
G |
A |
11: 72,098,588 (GRCm39) |
V47M |
probably damaging |
Het |
Ubp1 |
A |
G |
9: 113,804,417 (GRCm39) |
E494G |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,628,487 (GRCm39) |
S936T |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,603,154 (GRCm39) |
D585G |
probably damaging |
Het |
Wdtc1 |
A |
T |
4: 133,031,460 (GRCm39) |
|
probably null |
Het |
Zfp292 |
A |
G |
4: 34,807,386 (GRCm39) |
M1891T |
probably damaging |
Het |
Zfp84 |
A |
C |
7: 29,475,862 (GRCm39) |
I185L |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,808,956 (GRCm39) |
F364L |
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 |
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'- AGATGTCTCTCTTTCCTGTGGA -3'
(R):5'- TAGTTGTGGTTCAGCCCCAG -3'
Sequencing Primer
(F):5'- GGTGTCCTGTGTATGTTCCTTCTC -3'
(R):5'- TTCAGCCCCAGGACAGGATG -3'
|
Posted On |
2020-06-30 |