Incidental Mutation 'IGL00423:Tdrd1'
| ID |
3152 |
| 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 # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56839896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 652
(V652A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078723
AA Change: V652A
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: V652A
| 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 |
possibly damaging
Transcript: ENSMUST00000111604
AA Change: V652A
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: V652A
| 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 |
possibly damaging
Transcript: ENSMUST00000111606
AA Change: V652A
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: V652A
| 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 |
possibly damaging
Transcript: ENSMUST00000121249
AA Change: V652A
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: V652A
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Tdrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02691:Tdrd1
|
APN |
19 |
56,832,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-04-20 |
Incidental Mutation