Incidental Mutation 'R4602:Tdrd5'
ID |
345684 |
Institutional Source |
Beutler Lab
|
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 # |
R4602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
156082866-156131234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 156111944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 479
(T479S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137298
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121146]
[ENSMUST00000167528]
|
AlphaFold |
Q5VCS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121146
AA Change: T479S
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137298 Gene: ENSMUSG00000060985 AA Change: T479S
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: ENSMUST00000167528
AA Change: T402S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000137182 Gene: ENSMUSG00000060985 AA Change: T402S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
Atp1a4 |
A |
C |
1: 172,067,332 (GRCm39) |
M600R |
probably damaging |
Het |
Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
Mettl17 |
T |
C |
14: 52,126,246 (GRCm39) |
V218A |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
Pde11a |
A |
G |
2: 75,988,677 (GRCm39) |
V488A |
probably benign |
Het |
Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
C |
A |
6: 142,047,378 (GRCm39) |
C404F |
probably benign |
Het |
Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
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 |
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'- TGTTAGTTTAGGAGTCCCAAGACC -3'
(R):5'- GACTGCAATAAGGCTGATTCG -3'
Sequencing Primer
(F):5'- TAGTTTAGGAGTCCCAAGACCAACTC -3'
(R):5'- CTGCAATAAGGCTGATTCGTGAAAG -3'
|
Posted On |
2015-09-25 |