Incidental Mutation 'R3957:Tdrkh'
| ID |
310748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrkh
|
| Ensembl Gene |
ENSMUSG00000041912 |
| Gene Name |
tudor and KH domain containing protein |
| Synonyms |
Tdrd2, 2700091C21Rik |
| MMRRC Submission |
040931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3957 (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 G
at 94335556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 383
(N383S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045245]
[ENSMUST00000166032]
[ENSMUST00000196386]
[ENSMUST00000196606]
[ENSMUST00000197495]
[ENSMUST00000197876]
[ENSMUST00000197901]
[ENSMUST00000200486]
|
| AlphaFold |
Q80VL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045245
AA Change: N383S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: N383S
| 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 damaging
Transcript: ENSMUST00000166032
AA Change: N383S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: N383S
| 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: 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 damaging
Transcript: ENSMUST00000196606
AA Change: N379S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: N379S
| 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 |
probably damaging
Transcript: ENSMUST00000197495
AA Change: N338S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: N338S
| 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 |
probably damaging
Transcript: ENSMUST00000197901
AA Change: N383S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: N383S
| 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 |
noncoding transcript
Transcript: ENSMUST00000199318
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Acsm4 |
A |
T |
7: 119,302,588 (GRCm39) |
M238L |
possibly damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,117,012 (GRCm39) |
I579L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,556,113 (GRCm39) |
Y718H |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,561,501 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,077,545 (GRCm39) |
T561A |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,067,455 (GRCm39) |
A112V |
probably benign |
Het |
| Fanca |
G |
A |
8: 124,043,102 (GRCm39) |
R95C |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,495 (GRCm39) |
N3382K |
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,252,489 (GRCm39) |
F290L |
probably benign |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,300 (GRCm39) |
Q97L |
probably damaging |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,903 (GRCm39) |
Y114F |
probably benign |
Het |
| Kera |
G |
A |
10: 97,448,707 (GRCm39) |
R309H |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,459,106 (GRCm39) |
E149G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,980,589 (GRCm39) |
S307R |
probably damaging |
Het |
| Mettl25b |
T |
C |
3: 87,834,135 (GRCm39) |
K116R |
possibly damaging |
Het |
| Mocs2 |
T |
A |
13: 114,961,803 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d43 |
A |
G |
2: 88,105,348 (GRCm39) |
F15S |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,046 (GRCm39) |
R806C |
probably damaging |
Het |
| Plod3 |
A |
T |
5: 137,023,046 (GRCm39) |
H616L |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,473,798 (GRCm39) |
A239T |
possibly damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,469,873 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,089 (GRCm39) |
S957P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,395 (GRCm39) |
T722A |
probably 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 |
|
|
R2352:Tdrkh
|
UTSW |
3 |
94,336,467 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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'- GGACAAAGTTAGTCTGGGGC -3'
(R):5'- CTTGATATGTGCCAATAGCTCAC -3'
Sequencing Primer
(F):5'- ACTGTAACATATTCCCTTCCTCTG -3'
(R):5'- GCTGGGATTTAAACTCAGGACCTTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation