Incidental Mutation 'R9621:Ttll5'
| ID |
724818 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R9621 (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 85938896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 398
(V398E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000095536]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
| AlphaFold |
Q8CHB8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040179
AA Change: V398E
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: V398E
| 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 benign
Transcript: ENSMUST00000040273
AA Change: V398E
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: V398E
| 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 benign
Transcript: ENSMUST00000095536
AA Change: V398E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: V398E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110224
AA Change: V398E
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: V398E
| 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 |
possibly damaging
Transcript: ENSMUST00000155448
AA Change: V398E
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: V398E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176695
AA Change: V398E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: V398E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177114
AA Change: V398E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: V398E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,092,918 (GRCm39) |
T289A |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,024,663 (GRCm39) |
S877R |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,386,090 (GRCm39) |
H555Q |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,615,131 (GRCm39) |
Y38* |
probably null |
Het |
| Amtn |
C |
A |
5: 88,528,205 (GRCm39) |
Q93K |
probably benign |
Het |
| Ap2b1 |
T |
C |
11: 83,293,424 (GRCm39) |
V937A |
probably damaging |
Het |
| Arih1 |
ATCGTCCGGCTCGTCCTCGTCGTCGTCC |
ATCGTCC |
9: 59,393,520 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,512 (GRCm39) |
N711D |
possibly damaging |
Het |
| Bhmt |
A |
G |
13: 93,758,079 (GRCm39) |
S211P |
possibly damaging |
Het |
| Bltp3a |
T |
A |
17: 28,105,753 (GRCm39) |
S760T |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,715,306 (GRCm39) |
Y943C |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cbfb |
A |
C |
8: 105,905,243 (GRCm39) |
T62P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,386,355 (GRCm39) |
F249L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,111,983 (GRCm39) |
F514L |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,866,350 (GRCm39) |
E352G |
|
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,571,807 (GRCm39) |
V34A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,965,726 (GRCm39) |
I846F |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,050,278 (GRCm39) |
K1464E |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,326,613 (GRCm39) |
D1039G |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,713,116 (GRCm39) |
S778R |
|
Het |
| Daam2 |
C |
T |
17: 49,780,332 (GRCm39) |
C729Y |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,132 (GRCm39) |
H305R |
probably damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,558 (GRCm39) |
C248Y |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,016,772 (GRCm39) |
A1582S |
probably damaging |
Het |
| Eef1a1 |
A |
T |
9: 78,386,632 (GRCm39) |
D319E |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,643,109 (GRCm39) |
R6H |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,926,421 (GRCm38) |
G1822R |
probably damaging |
Het |
| Gabrb1 |
G |
A |
5: 72,279,363 (GRCm39) |
V303I |
possibly damaging |
Het |
| Gli3 |
T |
G |
13: 15,901,253 (GRCm39) |
S1547A |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,693,111 (GRCm39) |
N360I |
possibly damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
C |
G |
2: 119,280,496 (GRCm39) |
K289N |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,393,870 (GRCm39) |
E1638K |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,274,812 (GRCm39) |
I45F |
unknown |
Het |
| Kif1a |
G |
A |
1: 92,983,445 (GRCm39) |
P684L |
probably benign |
Het |
| Kpnb1 |
A |
T |
11: 97,058,460 (GRCm39) |
S610T |
probably benign |
Het |
| Man1a2 |
A |
G |
3: 100,591,961 (GRCm39) |
V73A |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,235,621 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,932,720 (GRCm39) |
T489S |
unknown |
Het |
| Nup210 |
G |
C |
6: 90,994,375 (GRCm39) |
N1774K |
probably benign |
Het |
| Or10p21 |
G |
T |
10: 128,847,759 (GRCm39) |
V202F |
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 132,999,345 (GRCm39) |
S398P |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,279,988 (GRCm39) |
T37A |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,052,516 (GRCm39) |
S840P |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,261,014 (GRCm39) |
K355N |
probably benign |
Het |
| Prorp |
C |
A |
12: 55,429,042 (GRCm39) |
H538N |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,809 (GRCm38) |
K1422R |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,378,523 (GRCm39) |
E2006G |
probably damaging |
Het |
| Qsox1 |
TG |
T |
1: 155,671,135 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
A |
T |
19: 7,251,591 (GRCm39) |
T412S |
probably benign |
Het |
| Rnf224 |
A |
T |
2: 25,126,200 (GRCm39) |
M51K |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,317,509 (GRCm39) |
D521G |
probably damaging |
Het |
| Sf3b4 |
T |
A |
3: 96,084,115 (GRCm39) |
S360T |
unknown |
Het |
| Sgo2b |
T |
C |
8: 64,380,651 (GRCm39) |
D727G |
probably damaging |
Het |
| Smpd2 |
C |
A |
10: 41,364,283 (GRCm39) |
V172L |
probably benign |
Het |
| Spring1 |
C |
T |
5: 118,393,880 (GRCm39) |
T86I |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,273,887 (GRCm39) |
A1966T |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,745,575 (GRCm39) |
G15D |
possibly damaging |
Het |
| Taf3 |
A |
T |
2: 9,923,070 (GRCm39) |
L18Q |
unknown |
Het |
| Tcam1 |
T |
A |
11: 106,176,259 (GRCm39) |
N328K |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,767 (GRCm39) |
Y222* |
probably null |
Het |
| Timm29 |
A |
T |
9: 21,504,218 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,669,995 (GRCm39) |
D17G |
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,687,926 (GRCm39) |
D81V |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,511,501 (GRCm39) |
I195V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,748,441 (GRCm39) |
T4203A |
possibly damaging |
Het |
| Ubc |
A |
G |
5: 125,464,511 (GRCm39) |
I272T |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,983,785 (GRCm39) |
L337P |
probably damaging |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,315 (GRCm39) |
F187L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,814,301 (GRCm39) |
M381K |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,342,635 (GRCm39) |
N338S |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,805,892 (GRCm39) |
E9G |
possibly damaging |
Het |
| Zrsr2-ps1 |
G |
A |
11: 22,923,418 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Zswim8 |
T |
A |
14: 20,772,231 (GRCm39) |
S1614T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTATGACCAGCTAGCTAGTG -3'
(R):5'- ACCTCACAACCCTAGTGCTTTAG -3'
Sequencing Primer
(F):5'- GACCAGCTAGCTAGTGTTTCAAAAAG -3'
(R):5'- ACAACCCTAGTGCTTTAGCCGTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation