Incidental Mutation 'IGL02409:Tdrkh'
| ID |
292243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdrkh
|
| Ensembl Gene |
ENSMUSG00000041912 |
| Gene Name |
tudor and KH domain containing protein |
| Synonyms |
Tdrd2, 2700091C21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94320580-94341975 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 94337919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045245]
[ENSMUST00000166032]
[ENSMUST00000191506]
[ENSMUST00000196386]
[ENSMUST00000196606]
[ENSMUST00000197495]
[ENSMUST00000204913]
[ENSMUST00000203883]
[ENSMUST00000204548]
[ENSMUST00000197901]
[ENSMUST00000199678]
[ENSMUST00000197876]
[ENSMUST00000200486]
|
| AlphaFold |
Q80VL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045245
|
| SMART Domains |
Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
120 |
9.32e-17 |
SMART |
|
KH
|
123 |
195 |
3.93e-15 |
SMART |
|
TUDOR
|
352 |
410 |
2.79e-6 |
SMART |
|
low complexity region
|
429 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166032
|
| SMART Domains |
Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
120 |
9.32e-17 |
SMART |
|
KH
|
123 |
195 |
3.93e-15 |
SMART |
|
TUDOR
|
352 |
410 |
2.79e-6 |
SMART |
|
low complexity region
|
429 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191506
|
| SMART Domains |
Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
88 |
N/A |
INTRINSIC |
|
Pfam:ODC_AZ
|
137 |
233 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196386
|
| SMART Domains |
Protein: ENSMUSP00000143256
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
120 |
2.6e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196606
|
| SMART Domains |
Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
116 |
1.5e-11 |
SMART |
|
KH
|
119 |
191 |
2.4e-17 |
SMART |
|
TUDOR
|
348 |
406 |
1.7e-8 |
SMART |
|
low complexity region
|
425 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197495
|
| SMART Domains |
Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
150 |
3e-18 |
SMART |
|
TUDOR
|
307 |
365 |
1.7e-8 |
SMART |
|
low complexity region
|
384 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204913
|
| SMART Domains |
Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203883
|
| SMART Domains |
Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:ODC_AZ
|
91 |
189 |
4.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204548
|
| SMART Domains |
Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197901
|
| SMART Domains |
Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
120 |
9.32e-17 |
SMART |
|
KH
|
123 |
195 |
3.93e-15 |
SMART |
|
TUDOR
|
352 |
410 |
2.79e-6 |
SMART |
|
low complexity region
|
429 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199678
|
| SMART Domains |
Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
41 |
N/A |
INTRINSIC |
|
Pfam:ODC_AZ
|
90 |
186 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197876
|
| SMART Domains |
Protein: ENSMUSP00000142779
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
11 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200486
|
| SMART Domains |
Protein: ENSMUSP00000142584
Gene: ENSMUSG00000041912
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
KH
|
51 |
120 |
5.9e-19 |
SMART |
|
KH
|
123 |
195 |
2.4e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp4 |
T |
A |
18: 15,532,782 (GRCm39) |
M104L |
probably benign |
Het |
| Cdkn1a |
T |
C |
17: 29,317,428 (GRCm39) |
V16A |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,321,271 (GRCm39) |
V514F |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,875 (GRCm39) |
N120I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,226,706 (GRCm39) |
N2794S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,837,793 (GRCm39) |
T281A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,451,204 (GRCm39) |
N840K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,621,088 (GRCm39) |
N540S |
possibly damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,838 (GRCm39) |
I248N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,120,835 (GRCm39) |
V157A |
probably benign |
Het |
| Fcrl2 |
G |
A |
3: 87,160,030 (GRCm39) |
P408L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 136,020,906 (GRCm39) |
M132L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,870,217 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 41,335,208 (GRCm39) |
K778T |
possibly damaging |
Het |
| Mapk10 |
T |
A |
5: 103,076,096 (GRCm39) |
E389D |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,301,807 (GRCm39) |
Y62* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,075 (GRCm39) |
T2674A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,368,494 (GRCm39) |
L2613P |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,384,337 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,313,366 (GRCm39) |
I269V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,214,679 (GRCm39) |
Y81H |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,165 (GRCm39) |
V247E |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,832,254 (GRCm39) |
C126Y |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,792,597 (GRCm39) |
I1428N |
probably benign |
Het |
| Ppil4 |
T |
C |
10: 7,674,328 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,144 (GRCm39) |
V547A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,701,989 (GRCm39) |
K155R |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,938 (GRCm39) |
D234G |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,718,844 (GRCm39) |
W133* |
probably null |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,405 (GRCm39) |
S579N |
probably benign |
Het |
| Thumpd2 |
A |
T |
17: 81,340,117 (GRCm39) |
F377L |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,861,952 (GRCm39) |
D723G |
probably damaging |
Het |
| Tnfrsf23 |
A |
T |
7: 143,222,308 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,784,974 (GRCm39) |
T818A |
unknown |
Het |
| Uox |
A |
T |
3: 146,330,381 (GRCm39) |
D130V |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,488,727 (GRCm39) |
Y101C |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,688,453 (GRCm39) |
D161N |
probably benign |
Het |
|
| Other mutations in Tdrkh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02938:Tdrkh
|
APN |
3 |
94,336,657 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03102:Tdrkh
|
APN |
3 |
94,331,844 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
3-1:Tdrkh
|
UTSW |
3 |
94,336,341 (GRCm39) |
unclassified |
probably benign |
|
|
R2352:Tdrkh
|
UTSW |
3 |
94,336,467 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3957:Tdrkh
|
UTSW |
3 |
94,335,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4174:Tdrkh
|
UTSW |
3 |
94,335,540 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4836:Tdrkh
|
UTSW |
3 |
94,332,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Tdrkh
|
UTSW |
3 |
94,336,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5321:Tdrkh
|
UTSW |
3 |
94,332,965 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5485:Tdrkh
|
UTSW |
3 |
94,336,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7471:Tdrkh
|
UTSW |
3 |
94,333,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8715:Tdrkh
|
UTSW |
3 |
94,331,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Tdrkh
|
UTSW |
3 |
94,333,299 (GRCm39) |
missense |
probably benign |
|
|
R8727:Tdrkh
|
UTSW |
3 |
94,333,299 (GRCm39) |
missense |
probably benign |
|
|
R8770:Tdrkh
|
UTSW |
3 |
94,336,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Tdrkh
|
UTSW |
3 |
94,336,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Tdrkh
|
UTSW |
3 |
94,335,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation