Incidental Mutation 'IGL01651:Tdrd5'
ID |
102836 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tdrd5
|
Ensembl Gene |
ENSMUSG00000060985 |
Gene Name |
tudor domain containing 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
IGL01651
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156082866-156131234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 156129397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 104
(M104I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137298
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121146]
[ENSMUST00000141760]
[ENSMUST00000167528]
|
AlphaFold |
Q5VCS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121146
AA Change: M104I
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000137298 Gene: ENSMUSG00000060985 AA Change: M104I
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
6 |
76 |
3.7e-11 |
PFAM |
Pfam:OST-HTH
|
126 |
194 |
1.5e-10 |
PFAM |
Pfam:OST-HTH
|
290 |
361 |
7.4e-10 |
PFAM |
TUDOR
|
532 |
590 |
3.25e-7 |
SMART |
low complexity region
|
739 |
753 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1021 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141760
AA Change: M104I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000137156 Gene: ENSMUSG00000060985 AA Change: M104I
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
6 |
75 |
2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167528
AA Change: M104I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137182 Gene: ENSMUSG00000060985 AA Change: M104I
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
6 |
75 |
1.4e-9 |
PFAM |
Pfam:OST-HTH
|
213 |
284 |
6.4e-9 |
PFAM |
TUDOR
|
455 |
513 |
3.25e-7 |
SMART |
low complexity region
|
662 |
676 |
N/A |
INTRINSIC |
low complexity region
|
924 |
944 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195064
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with defective spermatid elongation, occasional arrested male meiosis, and apoptosis of male germ cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
Other mutations in Tdrd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02441:Tdrd5
|
APN |
1 |
156,087,513 (GRCm39) |
splice site |
probably benign |
|
IGL02932:Tdrd5
|
APN |
1 |
156,098,190 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0049:Tdrd5
|
UTSW |
1 |
156,129,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Tdrd5
|
UTSW |
1 |
156,113,051 (GRCm39) |
missense |
probably damaging |
0.96 |
R0518:Tdrd5
|
UTSW |
1 |
156,090,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R1439:Tdrd5
|
UTSW |
1 |
156,105,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Tdrd5
|
UTSW |
1 |
156,087,406 (GRCm39) |
missense |
probably benign |
0.41 |
R1497:Tdrd5
|
UTSW |
1 |
156,083,372 (GRCm39) |
missense |
probably benign |
0.28 |
R1774:Tdrd5
|
UTSW |
1 |
156,105,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Tdrd5
|
UTSW |
1 |
156,129,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Tdrd5
|
UTSW |
1 |
156,104,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R2126:Tdrd5
|
UTSW |
1 |
156,104,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R2197:Tdrd5
|
UTSW |
1 |
156,087,435 (GRCm39) |
missense |
probably benign |
0.02 |
R3820:Tdrd5
|
UTSW |
1 |
156,113,053 (GRCm39) |
missense |
probably benign |
0.16 |
R3928:Tdrd5
|
UTSW |
1 |
156,128,348 (GRCm39) |
missense |
probably benign |
0.06 |
R4258:Tdrd5
|
UTSW |
1 |
156,087,312 (GRCm39) |
missense |
probably benign |
0.00 |
R4502:Tdrd5
|
UTSW |
1 |
156,128,334 (GRCm39) |
missense |
probably benign |
0.00 |
R4601:Tdrd5
|
UTSW |
1 |
156,111,944 (GRCm39) |
missense |
probably benign |
0.12 |
R4602:Tdrd5
|
UTSW |
1 |
156,111,944 (GRCm39) |
missense |
probably benign |
0.12 |
R4610:Tdrd5
|
UTSW |
1 |
156,111,944 (GRCm39) |
missense |
probably benign |
0.12 |
R4611:Tdrd5
|
UTSW |
1 |
156,111,944 (GRCm39) |
missense |
probably benign |
0.12 |
R4674:Tdrd5
|
UTSW |
1 |
156,105,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Tdrd5
|
UTSW |
1 |
156,129,945 (GRCm39) |
missense |
probably benign |
0.31 |
R4778:Tdrd5
|
UTSW |
1 |
156,083,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R5737:Tdrd5
|
UTSW |
1 |
156,128,294 (GRCm39) |
missense |
probably benign |
0.01 |
R5881:Tdrd5
|
UTSW |
1 |
156,122,070 (GRCm39) |
missense |
probably damaging |
0.98 |
R5900:Tdrd5
|
UTSW |
1 |
156,105,005 (GRCm39) |
nonsense |
probably null |
|
R6234:Tdrd5
|
UTSW |
1 |
156,120,947 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6557:Tdrd5
|
UTSW |
1 |
156,128,291 (GRCm39) |
missense |
probably benign |
0.10 |
R7068:Tdrd5
|
UTSW |
1 |
156,111,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7184:Tdrd5
|
UTSW |
1 |
156,087,505 (GRCm39) |
missense |
probably benign |
0.30 |
R7199:Tdrd5
|
UTSW |
1 |
156,129,293 (GRCm39) |
missense |
probably damaging |
0.98 |
R7432:Tdrd5
|
UTSW |
1 |
156,130,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Tdrd5
|
UTSW |
1 |
156,090,475 (GRCm39) |
missense |
probably benign |
0.00 |
R8030:Tdrd5
|
UTSW |
1 |
156,098,165 (GRCm39) |
nonsense |
probably null |
|
R8323:Tdrd5
|
UTSW |
1 |
156,094,832 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8680:Tdrd5
|
UTSW |
1 |
156,098,788 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9282:Tdrd5
|
UTSW |
1 |
156,105,030 (GRCm39) |
missense |
probably benign |
0.01 |
X0026:Tdrd5
|
UTSW |
1 |
156,112,997 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Tdrd5
|
UTSW |
1 |
156,083,269 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tdrd5
|
UTSW |
1 |
156,130,158 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tdrd5
|
UTSW |
1 |
156,130,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Tdrd5
|
UTSW |
1 |
156,083,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |