Incidental Mutation 'R7339:Ttll5'
ID |
569723 |
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 |
045429-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.716)
|
Stock # |
R7339 (G1)
|
Quality Score |
225.009 |
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 85904238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040179]
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000095536]
[ENSMUST00000110220]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
[ENSMUST00000177188]
|
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: 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: 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: ENSMUST00000110220
|
SMART Domains |
Protein: ENSMUSP00000105849 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
348 |
3.5e-72 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177188
|
SMART Domains |
Protein: ENSMUSP00000134928 Gene: ENSMUSG00000012609
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
110 |
175 |
4.9e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.9502 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,330,938 (GRCm39) |
D1092G |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,985,529 (GRCm39) |
N2271I |
possibly damaging |
Het |
Amz1 |
A |
G |
5: 140,727,306 (GRCm39) |
S90G |
probably benign |
Het |
Arhgap5 |
A |
G |
12: 52,564,481 (GRCm39) |
E484G |
possibly damaging |
Het |
Arid3c |
A |
G |
4: 41,729,883 (GRCm39) |
|
probably null |
Het |
Atp1a1 |
T |
C |
3: 101,497,188 (GRCm39) |
I373V |
probably benign |
Het |
Barhl1 |
T |
C |
2: 28,799,899 (GRCm39) |
E242G |
probably damaging |
Het |
Bltp2 |
G |
A |
11: 78,163,210 (GRCm39) |
|
probably null |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Casz1 |
T |
A |
4: 149,036,202 (GRCm39) |
V1488E |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,182,815 (GRCm39) |
Q401H |
probably damaging |
Het |
Cfap36 |
T |
C |
11: 29,175,925 (GRCm39) |
Y191C |
probably benign |
Het |
Chmp2b |
G |
A |
16: 65,342,232 (GRCm39) |
Q119* |
probably null |
Het |
Cps1 |
T |
A |
1: 67,236,174 (GRCm39) |
I969N |
possibly damaging |
Het |
Dennd5a |
A |
G |
7: 109,500,366 (GRCm39) |
F920L |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,594,277 (GRCm39) |
T3410S |
probably benign |
Het |
Fbxo42 |
T |
G |
4: 140,927,455 (GRCm39) |
S578R |
possibly damaging |
Het |
Fcgr1 |
C |
T |
3: 96,191,615 (GRCm39) |
G398R |
not run |
Het |
Foxa3 |
A |
T |
7: 18,748,794 (GRCm39) |
Y111N |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,846,340 (GRCm39) |
K190E |
probably benign |
Het |
Gbp10 |
T |
C |
5: 105,367,964 (GRCm39) |
Y403C |
possibly damaging |
Het |
Hsd3b5 |
A |
G |
3: 98,529,390 (GRCm39) |
I80T |
probably damaging |
Het |
Kri1 |
T |
G |
9: 21,197,883 (GRCm39) |
Q89P |
|
Het |
Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
Metap1 |
T |
C |
3: 138,171,898 (GRCm39) |
|
probably null |
Het |
Mkrn3 |
C |
T |
7: 62,069,530 (GRCm39) |
R87H |
probably benign |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myh6 |
T |
C |
14: 55,199,025 (GRCm39) |
|
probably null |
Het |
Naip6 |
G |
T |
13: 100,452,527 (GRCm39) |
P178Q |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,378,454 (GRCm39) |
E160G |
probably damaging |
Het |
Nek6 |
G |
A |
2: 38,450,977 (GRCm39) |
A127T |
probably damaging |
Het |
Nell1 |
T |
C |
7: 49,929,297 (GRCm39) |
V264A |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,330,627 (GRCm39) |
I590F |
possibly damaging |
Het |
Or13j1 |
C |
T |
4: 43,706,080 (GRCm39) |
A163T |
probably benign |
Het |
Or2y17 |
G |
A |
11: 49,231,875 (GRCm39) |
R172Q |
not run |
Het |
Or4f57 |
A |
T |
2: 111,790,956 (GRCm39) |
M154K |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,820 (GRCm39) |
L237P |
probably damaging |
Het |
Or52n4b |
A |
C |
7: 108,144,107 (GRCm39) |
D125A |
probably damaging |
Het |
Otop3 |
T |
A |
11: 115,237,204 (GRCm39) |
L556Q |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,556,545 (GRCm39) |
D190G |
probably null |
Het |
Pald1 |
T |
C |
10: 61,159,110 (GRCm39) |
S774G |
possibly damaging |
Het |
Pde10a |
C |
T |
17: 8,975,860 (GRCm39) |
T55I |
probably benign |
Het |
Pla2g4d |
T |
C |
2: 120,109,459 (GRCm39) |
M197V |
probably benign |
Het |
Prom1 |
C |
A |
5: 44,258,995 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
A |
G |
13: 67,111,426 (GRCm39) |
H164R |
possibly damaging |
Het |
Rrh |
A |
T |
3: 129,604,262 (GRCm39) |
I313N |
probably damaging |
Het |
Slc35b4 |
A |
G |
6: 34,144,591 (GRCm39) |
I88T |
probably damaging |
Het |
Slc38a11 |
C |
T |
2: 65,156,914 (GRCm39) |
V353I |
probably benign |
Het |
Spata31e3 |
A |
T |
13: 50,401,204 (GRCm39) |
I374N |
possibly damaging |
Het |
Spdef |
T |
A |
17: 27,939,219 (GRCm39) |
E42D |
probably benign |
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Tmx1 |
A |
G |
12: 70,505,624 (GRCm39) |
D129G |
probably benign |
Het |
Trav13n-4 |
A |
T |
14: 53,601,435 (GRCm39) |
Y68F |
probably benign |
Het |
Trp53 |
T |
C |
11: 69,480,015 (GRCm39) |
S238P |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,066,950 (GRCm39) |
D592G |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn2r43 |
A |
T |
7: 8,258,306 (GRCm39) |
Y302* |
probably null |
Het |
Vps13d |
C |
T |
4: 144,847,938 (GRCm39) |
V2478I |
|
Het |
Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
Wsb1 |
A |
G |
11: 79,131,184 (GRCm39) |
V404A |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,239,205 (GRCm39) |
D539G |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,722,173 (GRCm39) |
V1392A |
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 |
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 |
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'- TAACTGTTGCGCTCCAGCTG -3'
(R):5'- CCGACAAGTGCTACTTTGGC -3'
Sequencing Primer
(F):5'- CCAGCTGGAGAAGTGGGGTTC -3'
(R):5'- CCGTGGAGTAAGTGTGTCCCATC -3'
|
Posted On |
2019-09-13 |