Incidental Mutation 'R2352:Tdrkh'
ID |
246183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrkh
|
Ensembl Gene |
ENSMUSG00000041912 |
Gene Name |
tudor and KH domain containing protein |
Synonyms |
Tdrd2, 2700091C21Rik |
MMRRC Submission |
040334-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2352 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94320580-94341975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94336467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 468
(K468M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045245]
[ENSMUST00000166032]
[ENSMUST00000191506]
[ENSMUST00000196386]
[ENSMUST00000196606]
[ENSMUST00000197495]
[ENSMUST00000197876]
[ENSMUST00000197901]
[ENSMUST00000203883]
[ENSMUST00000204548]
[ENSMUST00000204913]
[ENSMUST00000199678]
[ENSMUST00000200486]
|
AlphaFold |
Q80VL1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045245
AA Change: K468M
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041002 Gene: ENSMUSG00000041912 AA Change: K468M
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 |
possibly damaging
Transcript: ENSMUST00000166032
AA Change: K468M
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129635 Gene: ENSMUSG00000041912 AA Change: K468M
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 |
possibly damaging
Transcript: ENSMUST00000196606
AA Change: K464M
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143102 Gene: ENSMUSG00000041912 AA Change: K464M
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 |
possibly damaging
Transcript: ENSMUST00000197495
AA Change: K423M
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143135 Gene: ENSMUSG00000041912 AA Change: K423M
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: ENSMUST00000197876
|
SMART Domains |
Protein: ENSMUSP00000142779 Gene: ENSMUSG00000041912
Domain | Start | End | E-Value | Type |
transmembrane domain
|
11 |
33 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197901
AA Change: K468M
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142561 Gene: ENSMUSG00000041912 AA Change: K468M
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: 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 |
noncoding transcript
Transcript: ENSMUST00000199318
|
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 |
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: 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,177,275 (GRCm39) |
Y90H |
probably damaging |
Het |
Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
Grk4 |
T |
C |
5: 34,826,520 (GRCm39) |
M40T |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
Lypd8l |
G |
A |
11: 58,502,934 (GRCm39) |
Q72* |
probably null |
Het |
Lypd8l |
A |
T |
11: 58,503,676 (GRCm39) |
L10H |
probably damaging |
Het |
Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
Mical1 |
A |
T |
10: 41,358,229 (GRCm39) |
D414V |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
Sema4b |
C |
A |
7: 79,870,627 (GRCm39) |
A525D |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
possibly damaging |
Het |
|
Other mutations in Tdrkh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02409:Tdrkh
|
APN |
3 |
94,337,919 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATCTGCTCTGAGGCTCAGC -3'
(R):5'- ATACCCTTTACGAACTAATTCTAGCCC -3'
Sequencing Primer
(F):5'- AGACTCACTCACTGTGCT -3'
(R):5'- ATGAATGTCTTCTTGTAAGGGAGAGC -3'
|
Posted On |
2014-10-30 |