Incidental Mutation 'R4094:Ttll5'
| ID |
317816 |
| 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 |
041628-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.716)
|
| Stock # |
R4094 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 86003376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 214
(R214*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
| AlphaFold |
Q8CHB8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040179
AA Change: R1085*
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: R1085*
| 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
AA Change: R1085*
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: R1085*
| 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: ENSMUST00000110224
AA Change: R1071*
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: R1071*
| 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 null
Transcript: ENSMUST00000175844
AA Change: R53*
|
| SMART Domains |
Protein: ENSMUSP00000134934
Gene: ENSMUSG00000012609
AA Change: R53*
| 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 null
Transcript: ENSMUST00000176937
AA Change: R252*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177168
AA Change: R520*
|
| SMART Domains |
Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: R520*
| 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 null
Transcript: ENSMUST00000177525
AA Change: R214*
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,071,192 (GRCm39) |
C1500R |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,921 (GRCm39) |
M93L |
probably damaging |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,991,069 (GRCm39) |
V1561G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,679,685 (GRCm39) |
N49K |
probably damaging |
Het |
| Cct8 |
T |
G |
16: 87,284,516 (GRCm39) |
I283L |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,031,037 (GRCm39) |
M121V |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,563,734 (GRCm39) |
D37G |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,684,276 (GRCm39) |
I517N |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,121,095 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
A |
G |
5: 121,590,345 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
C |
A |
10: 93,879,296 (GRCm39) |
P50Q |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,037,425 (GRCm39) |
D386G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,615,843 (GRCm39) |
Y1031C |
probably damaging |
Het |
| Gna13 |
T |
A |
11: 109,287,242 (GRCm39) |
I355N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,359,859 (GRCm39) |
L21* |
probably null |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,007,161 (GRCm39) |
D389G |
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,216,496 (GRCm39) |
C289R |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,229,915 (GRCm39) |
D237E |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,506 (GRCm39) |
E114V |
probably damaging |
Het |
| Loxl1 |
G |
A |
9: 58,219,739 (GRCm39) |
T144I |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,353,062 (GRCm39) |
R1784Q |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,531,449 (GRCm39) |
S221N |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,696 (GRCm39) |
M853T |
possibly damaging |
Het |
| Micu3 |
T |
G |
8: 40,788,929 (GRCm39) |
S147A |
probably null |
Het |
| Nccrp1 |
T |
C |
7: 28,243,651 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Or51aa5 |
T |
A |
7: 103,167,244 (GRCm39) |
I116F |
possibly damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,562 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or8k18 |
T |
C |
2: 86,085,674 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,905,659 (GRCm39) |
T4963N |
unknown |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,761 (GRCm39) |
E95G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,647,406 (GRCm39) |
N276S |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,697,371 (GRCm39) |
L848P |
unknown |
Het |
| Ptcd2 |
A |
G |
13: 99,468,957 (GRCm39) |
I202T |
probably damaging |
Het |
| Rab27a |
A |
C |
9: 72,982,826 (GRCm39) |
I44L |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,925 (GRCm39) |
S82T |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,835,974 (GRCm39) |
F337L |
probably damaging |
Het |
| Samd8 |
T |
C |
14: 21,843,113 (GRCm39) |
I414T |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,283,704 (GRCm39) |
I478V |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,712,527 (GRCm39) |
I239N |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,975 (GRCm39) |
S50L |
probably damaging |
Het |
| St8sia4 |
A |
T |
1: 95,555,411 (GRCm39) |
S206R |
possibly damaging |
Het |
| Syngr3 |
G |
A |
17: 24,908,817 (GRCm39) |
|
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,947 (GRCm39) |
D288G |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,983,795 (GRCm39) |
M251V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,730,860 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,534,406 (GRCm39) |
I167T |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
| Zscan4f |
A |
T |
7: 11,135,185 (GRCm39) |
N197I |
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 |
|
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 |
|
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'- AGACAGTCTGTGCTCTGTGC -3'
(R):5'- TGCTAGACTCCACTCAGAACTCTC -3'
Sequencing Primer
(F):5'- TGTGCCGTTGTCACAGC -3'
(R):5'- TCACTCAGGATACGGCATAGGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation