Incidental Mutation 'R3928:Tdrd5'
ID |
308353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd5
|
Ensembl Gene |
ENSMUSG00000060985 |
Gene Name |
tudor domain containing 5 |
Synonyms |
|
MMRRC Submission |
040823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R3928 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156082866-156131234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 156128348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 136
(T136I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121146]
[ENSMUST00000141760]
[ENSMUST00000167528]
|
AlphaFold |
Q5VCS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121146
AA Change: T213I
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000137298 Gene: ENSMUSG00000060985 AA Change: T213I
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
|
SMART Domains |
Protein: ENSMUSP00000137156 Gene: ENSMUSG00000060985
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
6 |
75 |
2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167528
AA Change: T136I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000137182 Gene: ENSMUSG00000060985 AA Change: T136I
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
|
Meta Mutation Damage Score |
0.1501 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
probably damaging |
Het |
|
Other mutations in Tdrd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01651:Tdrd5
|
APN |
1 |
156,129,397 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGTGGTTCAGCCTTGAAG -3'
(R):5'- AAACTGCTTGGTTGGGCACTC -3'
Sequencing Primer
(F):5'- GCCTCCACAGAATTAAACGTGGG -3'
(R):5'- GAGCAACAGTCTTTTCAGTAACATGG -3'
|
Posted On |
2015-04-17 |