Incidental Mutation 'IGL02691:Tdrd1'
ID |
303763 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tdrd1
|
Ensembl Gene |
ENSMUSG00000025081 |
Gene Name |
tudor domain containing 1 |
Synonyms |
MTR-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.382)
|
Stock # |
IGL02691
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56832284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 400
(E400D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
AlphaFold |
Q99MV1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078723
AA Change: E400D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000077785 Gene: ENSMUSG00000025081 AA Change: E400D
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111604
AA Change: E400D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107231 Gene: ENSMUSG00000025081 AA Change: E400D
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111606
AA Change: E400D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107233 Gene: ENSMUSG00000025081 AA Change: E400D
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121249
AA Change: E400D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112786 Gene: ENSMUSG00000025081 AA Change: E400D
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
163 |
199 |
9.9e-13 |
PFAM |
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,457 (GRCm39) |
S40P |
probably benign |
Het |
Actl9 |
G |
T |
17: 33,652,092 (GRCm39) |
V51L |
probably damaging |
Het |
Adcy6 |
A |
T |
15: 98,502,185 (GRCm39) |
F143Y |
probably damaging |
Het |
Agps |
A |
T |
2: 75,722,204 (GRCm39) |
I465F |
probably benign |
Het |
Armc3 |
T |
A |
2: 19,240,295 (GRCm39) |
F17L |
probably damaging |
Het |
Arsk |
A |
C |
13: 76,223,069 (GRCm39) |
M176R |
probably damaging |
Het |
Asz1 |
G |
A |
6: 18,076,556 (GRCm39) |
T212I |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,931,982 (GRCm39) |
I102T |
probably damaging |
Het |
Bpifb6 |
T |
A |
2: 153,744,565 (GRCm39) |
L2Q |
unknown |
Het |
Cad |
A |
G |
5: 31,212,638 (GRCm39) |
Y45C |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,414,342 (GRCm39) |
D451G |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,789,547 (GRCm39) |
I834T |
probably benign |
Het |
Cyp2j12 |
C |
T |
4: 96,021,231 (GRCm39) |
|
probably null |
Het |
Dhx8 |
G |
A |
11: 101,642,830 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,800,767 (GRCm39) |
|
probably benign |
Het |
Ell2 |
T |
A |
13: 75,904,605 (GRCm39) |
D99E |
probably damaging |
Het |
Enpp1 |
G |
T |
10: 24,587,790 (GRCm39) |
P34T |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,892,564 (GRCm39) |
V2888E |
possibly damaging |
Het |
Gmfg |
A |
G |
7: 28,144,295 (GRCm39) |
Y40C |
probably damaging |
Het |
Gnal |
T |
C |
18: 67,355,746 (GRCm39) |
I369T |
probably damaging |
Het |
Gzmn |
T |
C |
14: 56,404,370 (GRCm39) |
T156A |
probably benign |
Het |
H2-DMb2 |
A |
T |
17: 34,366,832 (GRCm39) |
H88L |
probably benign |
Het |
Ighv7-3 |
T |
C |
12: 114,117,016 (GRCm39) |
T49A |
probably benign |
Het |
Jakmip3 |
C |
T |
7: 138,628,573 (GRCm39) |
Q450* |
probably null |
Het |
Klhl20 |
A |
T |
1: 160,934,444 (GRCm39) |
|
probably benign |
Het |
Klk6 |
A |
G |
7: 43,477,924 (GRCm39) |
T99A |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,093,097 (GRCm39) |
C118R |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,803,655 (GRCm39) |
|
probably benign |
Het |
Naa15 |
A |
G |
3: 51,358,747 (GRCm39) |
E294G |
probably damaging |
Het |
Nfia |
C |
T |
4: 97,970,045 (GRCm39) |
Q373* |
probably null |
Het |
Notch2 |
C |
A |
3: 98,042,923 (GRCm39) |
Y1429* |
probably null |
Het |
Oc90 |
A |
G |
15: 65,754,410 (GRCm39) |
S252P |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,771,338 (GRCm39) |
I225V |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,182 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,107,320 (GRCm39) |
|
probably benign |
Het |
Pdss1 |
G |
A |
2: 22,805,253 (GRCm39) |
V211I |
probably benign |
Het |
Phactr1 |
G |
T |
13: 43,231,213 (GRCm39) |
M226I |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,236 (GRCm39) |
S259P |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,713 (GRCm39) |
N269S |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,228,688 (GRCm39) |
V229A |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,444 (GRCm39) |
K997R |
probably benign |
Het |
Ppm1m |
A |
T |
9: 106,072,568 (GRCm39) |
V449E |
probably damaging |
Het |
Ppp1r36dn |
T |
C |
12: 76,498,073 (GRCm39) |
|
noncoding transcript |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
A |
G |
13: 55,526,836 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scamp5 |
G |
T |
9: 57,358,660 (GRCm39) |
R39S |
probably damaging |
Het |
Slc5a6 |
C |
T |
5: 31,199,518 (GRCm39) |
V15I |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,558,302 (GRCm39) |
V235E |
possibly damaging |
Het |
Tln1 |
T |
C |
4: 43,539,544 (GRCm39) |
R1593G |
probably benign |
Het |
Trdv2-2 |
T |
C |
14: 54,199,039 (GRCm39) |
F110L |
possibly damaging |
Het |
Ush2a |
A |
C |
1: 188,466,949 (GRCm39) |
Y2871S |
probably damaging |
Het |
Vars2 |
A |
C |
17: 35,971,140 (GRCm39) |
L592R |
probably damaging |
Het |
Vipr2 |
T |
A |
12: 116,099,849 (GRCm39) |
C239S |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,428 (GRCm39) |
D68V |
probably damaging |
Het |
Vmn1r7 |
A |
T |
6: 57,001,373 (GRCm39) |
S296T |
probably benign |
Het |
Vmn2r95 |
T |
C |
17: 18,672,120 (GRCm39) |
I619T |
probably benign |
Het |
|
Other mutations in Tdrd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Tdrd1
|
APN |
19 |
56,839,896 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01366:Tdrd1
|
APN |
19 |
56,843,734 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01569:Tdrd1
|
APN |
19 |
56,822,841 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Tdrd1
|
UTSW |
19 |
56,850,127 (GRCm39) |
missense |
probably benign |
|
R0081:Tdrd1
|
UTSW |
19 |
56,819,703 (GRCm39) |
missense |
probably benign |
0.16 |
R0139:Tdrd1
|
UTSW |
19 |
56,831,630 (GRCm39) |
missense |
probably benign |
0.00 |
R0254:Tdrd1
|
UTSW |
19 |
56,830,998 (GRCm39) |
missense |
probably benign |
0.02 |
R0686:Tdrd1
|
UTSW |
19 |
56,844,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R0735:Tdrd1
|
UTSW |
19 |
56,854,410 (GRCm39) |
nonsense |
probably null |
|
R0740:Tdrd1
|
UTSW |
19 |
56,827,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R1241:Tdrd1
|
UTSW |
19 |
56,850,192 (GRCm39) |
missense |
probably benign |
|
R1294:Tdrd1
|
UTSW |
19 |
56,837,208 (GRCm39) |
splice site |
probably null |
|
R1508:Tdrd1
|
UTSW |
19 |
56,839,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Tdrd1
|
UTSW |
19 |
56,831,648 (GRCm39) |
nonsense |
probably null |
|
R1708:Tdrd1
|
UTSW |
19 |
56,830,721 (GRCm39) |
missense |
probably benign |
0.13 |
R1796:Tdrd1
|
UTSW |
19 |
56,826,215 (GRCm39) |
missense |
probably damaging |
0.98 |
R1840:Tdrd1
|
UTSW |
19 |
56,830,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R2138:Tdrd1
|
UTSW |
19 |
56,831,021 (GRCm39) |
missense |
probably benign |
0.30 |
R2201:Tdrd1
|
UTSW |
19 |
56,847,094 (GRCm39) |
missense |
probably benign |
0.00 |
R2201:Tdrd1
|
UTSW |
19 |
56,847,093 (GRCm39) |
missense |
probably benign |
0.14 |
R2286:Tdrd1
|
UTSW |
19 |
56,827,551 (GRCm39) |
missense |
probably benign |
0.05 |
R2443:Tdrd1
|
UTSW |
19 |
56,829,786 (GRCm39) |
missense |
probably null |
0.01 |
R3001:Tdrd1
|
UTSW |
19 |
56,850,182 (GRCm39) |
nonsense |
probably null |
|
R3002:Tdrd1
|
UTSW |
19 |
56,850,182 (GRCm39) |
nonsense |
probably null |
|
R3418:Tdrd1
|
UTSW |
19 |
56,819,663 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3419:Tdrd1
|
UTSW |
19 |
56,819,663 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3707:Tdrd1
|
UTSW |
19 |
56,854,425 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3978:Tdrd1
|
UTSW |
19 |
56,855,066 (GRCm39) |
missense |
probably benign |
0.01 |
R4077:Tdrd1
|
UTSW |
19 |
56,819,505 (GRCm39) |
missense |
probably benign |
0.22 |
R4083:Tdrd1
|
UTSW |
19 |
56,831,662 (GRCm39) |
missense |
probably benign |
|
R4193:Tdrd1
|
UTSW |
19 |
56,839,773 (GRCm39) |
nonsense |
probably null |
|
R5882:Tdrd1
|
UTSW |
19 |
56,837,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6073:Tdrd1
|
UTSW |
19 |
56,831,655 (GRCm39) |
nonsense |
probably null |
|
R6223:Tdrd1
|
UTSW |
19 |
56,854,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R6240:Tdrd1
|
UTSW |
19 |
56,829,767 (GRCm39) |
missense |
probably benign |
0.00 |
R6953:Tdrd1
|
UTSW |
19 |
56,819,803 (GRCm39) |
missense |
probably damaging |
0.98 |
R7090:Tdrd1
|
UTSW |
19 |
56,839,833 (GRCm39) |
missense |
probably benign |
0.28 |
R7643:Tdrd1
|
UTSW |
19 |
56,826,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Tdrd1
|
UTSW |
19 |
56,852,809 (GRCm39) |
missense |
probably damaging |
0.99 |
R7972:Tdrd1
|
UTSW |
19 |
56,837,134 (GRCm39) |
missense |
probably damaging |
0.98 |
R7993:Tdrd1
|
UTSW |
19 |
56,854,437 (GRCm39) |
splice site |
probably null |
|
R8076:Tdrd1
|
UTSW |
19 |
56,832,267 (GRCm39) |
missense |
probably damaging |
0.96 |
R8346:Tdrd1
|
UTSW |
19 |
56,830,699 (GRCm39) |
missense |
probably benign |
0.44 |
R8400:Tdrd1
|
UTSW |
19 |
56,837,081 (GRCm39) |
missense |
probably benign |
0.05 |
R8553:Tdrd1
|
UTSW |
19 |
56,831,584 (GRCm39) |
missense |
probably damaging |
0.99 |
R8701:Tdrd1
|
UTSW |
19 |
56,839,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8772:Tdrd1
|
UTSW |
19 |
56,843,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R8906:Tdrd1
|
UTSW |
19 |
56,831,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R9222:Tdrd1
|
UTSW |
19 |
56,831,679 (GRCm39) |
missense |
probably benign |
0.38 |
R9321:Tdrd1
|
UTSW |
19 |
56,848,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Tdrd1
|
UTSW |
19 |
56,819,572 (GRCm39) |
missense |
probably benign |
0.04 |
R9747:Tdrd1
|
UTSW |
19 |
56,847,101 (GRCm39) |
missense |
probably benign |
0.17 |
R9756:Tdrd1
|
UTSW |
19 |
56,831,662 (GRCm39) |
missense |
probably benign |
|
X0020:Tdrd1
|
UTSW |
19 |
56,844,492 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Tdrd1
|
UTSW |
19 |
56,854,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Posted On |
2015-04-16 |