Incidental Mutation 'R5321:Tdrkh'
| ID |
406100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrkh
|
| Ensembl Gene |
ENSMUSG00000041912 |
| Gene Name |
tudor and KH domain containing protein |
| Synonyms |
Tdrd2, 2700091C21Rik |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94320580-94341975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94332965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 169
(L169I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045245]
[ENSMUST00000166032]
[ENSMUST00000196386]
[ENSMUST00000196606]
[ENSMUST00000197495]
[ENSMUST00000197876]
[ENSMUST00000197901]
[ENSMUST00000200486]
|
| AlphaFold |
Q80VL1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045245
AA Change: L173I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: L173I
| 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: L173I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: L173I
| 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: ENSMUST00000196386
AA Change: D139E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143256
Gene: ENSMUSG00000041912
AA Change: D139E
| 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: L169I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: L169I
| 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: ENSMUST00000196717
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197495
AA Change: L128I
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: L128I
| 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: L173I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: L173I
| 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: ENSMUST00000200486
AA Change: L173I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142584
Gene: ENSMUSG00000041912
AA Change: L173I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198111
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
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 |
|
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 |
|
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'- AAACTGGTTATGAGCCTACTCCTTTC -3'
(R):5'- CTGGTTTCTGCAGAATGGGC -3'
Sequencing Primer
(F):5'- CCTACTCCTTTCTGTAACATGGAAAG -3'
(R):5'- GAATGGGCAATTCTCTTCCGAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation