Incidental Mutation 'R5881:Tdrd5'
| ID |
454394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd5
|
| Ensembl Gene |
ENSMUSG00000060985 |
| Gene Name |
tudor domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
044085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R5881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156082866-156131234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156122070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 280
(S280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121146]
[ENSMUST00000141760]
[ENSMUST00000167528]
|
| AlphaFold |
Q5VCS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121146
AA Change: S280T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: S280T
| 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: S185T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137156
Gene: ENSMUSG00000060985
AA Change: S185T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OST-HTH
|
6 |
75 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167528
AA Change: S203T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: S203T
| 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: ENSMUST00000195348
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.3%
- 10x: 94.5%
- 20x: 78.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
C |
11: 95,725,213 (GRCm39) |
L159W |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,725,214 (GRCm39) |
L159M |
probably damaging |
Het |
| Adam11 |
A |
C |
11: 102,664,636 (GRCm39) |
I406L |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,051 (GRCm39) |
V300L |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,660 (GRCm39) |
S1726L |
probably benign |
Het |
| Boc |
A |
G |
16: 44,311,014 (GRCm39) |
I740T |
probably damaging |
Het |
| C8a |
T |
A |
4: 104,711,129 (GRCm39) |
D178V |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,198 (GRCm39) |
V174M |
probably damaging |
Het |
| Cisd1 |
A |
T |
10: 71,172,244 (GRCm39) |
W13R |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,107 (GRCm39) |
D111E |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,490,104 (GRCm39) |
D1691V |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,065,479 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,864,013 (GRCm39) |
V24A |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,538,640 (GRCm39) |
T968M |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,787,168 (GRCm39) |
F1122L |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,807 (GRCm39) |
F220L |
probably damaging |
Het |
| Entpd2 |
A |
C |
2: 25,290,824 (GRCm39) |
N443H |
probably damaging |
Het |
| Epgn |
A |
G |
5: 91,176,222 (GRCm39) |
N36S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,814,785 (GRCm39) |
S3506I |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,771 (GRCm39) |
S179G |
probably benign |
Het |
| Grifin |
G |
T |
5: 140,549,342 (GRCm39) |
H125N |
possibly damaging |
Het |
| H1f9 |
A |
G |
11: 94,858,989 (GRCm39) |
T95A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,078 (GRCm39) |
V3816A |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,499,207 (GRCm39) |
F196L |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,754,620 (GRCm39) |
K489E |
probably benign |
Het |
| Jmjd6 |
C |
T |
11: 116,730,682 (GRCm39) |
W117* |
probably null |
Het |
| Lrit2 |
G |
T |
14: 36,794,192 (GRCm39) |
A419S |
probably benign |
Het |
| Mc3r |
T |
C |
2: 172,091,092 (GRCm39) |
S105P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,018,531 (GRCm39) |
V601A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,795,627 (GRCm39) |
D91G |
probably damaging |
Het |
| Myo1f |
G |
A |
17: 33,799,259 (GRCm39) |
E255K |
possibly damaging |
Het |
| Necap1 |
T |
A |
6: 122,858,503 (GRCm39) |
D115E |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,786 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
G |
A |
14: 50,272,444 (GRCm39) |
R139C |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,818,652 (GRCm39) |
E78G |
probably null |
Het |
| Phldb3 |
T |
C |
7: 24,326,147 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,724,321 (GRCm39) |
I2394T |
probably damaging |
Het |
| Ppa2 |
A |
T |
3: 133,036,200 (GRCm39) |
N118I |
probably damaging |
Het |
| Ppef2 |
A |
T |
5: 92,398,388 (GRCm39) |
C43* |
probably null |
Het |
| Pramel51 |
A |
G |
12: 88,143,111 (GRCm39) |
L169P |
probably damaging |
Het |
| Rab27a |
G |
A |
9: 72,992,321 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,169,683 (GRCm39) |
F47I |
probably damaging |
Het |
| Rala |
A |
G |
13: 18,067,746 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,691 (GRCm39) |
D245G |
probably benign |
Het |
| Rnf34 |
A |
T |
5: 123,002,146 (GRCm39) |
T35S |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,057,894 (GRCm39) |
R51Q |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,372,716 (GRCm39) |
D1515G |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,870 (GRCm39) |
E1673G |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Tent2 |
A |
T |
13: 93,312,246 (GRCm39) |
C180* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,332,800 (GRCm39) |
I911V |
possibly damaging |
Het |
| Vipas39 |
G |
A |
12: 87,298,581 (GRCm39) |
R194* |
probably null |
Het |
| Ybx3 |
A |
C |
6: 131,345,451 (GRCm39) |
N307K |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,088,899 (GRCm39) |
H1216L |
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 |
|
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 |
|
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'- TGGGCTACACTAACCATGTG -3'
(R):5'- TGCAGATGAACACAGAGGTC -3'
Sequencing Primer
(F):5'- GGGCTACACTAACCATGTGTATTAC -3'
(R):5'- TCAAAGGCTGGGAGCTGAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation