Incidental Mutation 'R4193:Tdrd1'
ID |
318462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd1
|
Ensembl Gene |
ENSMUSG00000025081 |
Gene Name |
tudor domain containing 1 |
Synonyms |
MTR-1 |
MMRRC Submission |
041024-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.382)
|
Stock # |
R4193 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 56839773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 611
(L611*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
AlphaFold |
Q99MV1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000078723
AA Change: L611*
|
SMART Domains |
Protein: ENSMUSP00000077785 Gene: ENSMUSG00000025081 AA Change: L611*
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 null
Transcript: ENSMUST00000111604
AA Change: L611*
|
SMART Domains |
Protein: ENSMUSP00000107231 Gene: ENSMUSG00000025081 AA Change: L611*
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 null
Transcript: ENSMUST00000111606
AA Change: L611*
|
SMART Domains |
Protein: ENSMUSP00000107233 Gene: ENSMUSG00000025081 AA Change: L611*
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 null
Transcript: ENSMUST00000121249
AA Change: L611*
|
SMART Domains |
Protein: ENSMUSP00000112786 Gene: ENSMUSG00000025081 AA Change: L611*
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
Abcb1a |
G |
A |
5: 8,765,068 (GRCm39) |
|
probably null |
Het |
Acap3 |
A |
G |
4: 155,986,234 (GRCm39) |
T285A |
probably benign |
Het |
Adam20 |
A |
T |
8: 41,248,352 (GRCm39) |
N154I |
probably damaging |
Het |
Adamts8 |
A |
T |
9: 30,870,604 (GRCm39) |
D693V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,211,941 (GRCm39) |
H226R |
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,720,085 (GRCm39) |
S7G |
probably benign |
Het |
Atxn7l3b |
C |
A |
10: 112,764,610 (GRCm39) |
L6F |
probably damaging |
Het |
Bco1 |
C |
T |
8: 117,840,208 (GRCm39) |
T242M |
probably damaging |
Het |
Btla |
A |
G |
16: 45,070,845 (GRCm39) |
N268S |
probably benign |
Het |
Capn9 |
A |
G |
8: 125,327,225 (GRCm39) |
S292G |
probably null |
Het |
Cdhr18 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,785,740 (GRCm39) |
S403N |
unknown |
Het |
Ctps1 |
A |
G |
4: 120,405,335 (GRCm39) |
V369A |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,486,493 (GRCm39) |
K3356R |
probably benign |
Het |
Dpf2 |
G |
A |
19: 5,957,044 (GRCm39) |
R60* |
probably null |
Het |
Eif3h |
A |
T |
15: 51,662,695 (GRCm39) |
V117E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Fez1 |
T |
A |
9: 36,755,023 (GRCm39) |
S7R |
probably damaging |
Het |
Fh1 |
T |
A |
1: 175,442,407 (GRCm39) |
M148L |
possibly damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Gfm1 |
T |
G |
3: 67,339,053 (GRCm39) |
I52S |
probably damaging |
Het |
Gm6729 |
A |
T |
10: 86,376,483 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
T |
G |
19: 4,192,906 (GRCm39) |
L149R |
probably damaging |
Het |
H2bc27 |
T |
A |
11: 58,840,067 (GRCm39) |
L101Q |
probably damaging |
Het |
Ifnar2 |
A |
T |
16: 91,201,232 (GRCm39) |
D491V |
probably damaging |
Het |
Igkv14-126 |
T |
C |
6: 67,873,367 (GRCm39) |
S32P |
possibly damaging |
Het |
Il1rl2 |
A |
G |
1: 40,404,208 (GRCm39) |
E443G |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,088,774 (GRCm39) |
D1100G |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,023,185 (GRCm39) |
R56* |
probably null |
Het |
Itga2b |
A |
G |
11: 102,360,511 (GRCm39) |
S10P |
probably benign |
Het |
Jmjd1c |
C |
T |
10: 66,932,460 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
G |
6: 39,146,030 (GRCm39) |
K299T |
probably damaging |
Het |
Large2 |
T |
A |
2: 92,195,704 (GRCm39) |
D632V |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,297,487 (GRCm39) |
C3158Y |
probably damaging |
Het |
Malt1 |
T |
A |
18: 65,580,746 (GRCm39) |
D213E |
probably benign |
Het |
Nkapl |
T |
C |
13: 21,651,512 (GRCm39) |
Q367R |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,964,808 (GRCm39) |
L1464P |
probably damaging |
Het |
Or1e25 |
C |
G |
11: 73,494,243 (GRCm39) |
T279R |
probably damaging |
Het |
Or2y1 |
A |
C |
11: 49,386,134 (GRCm39) |
Y258S |
probably damaging |
Het |
Or7a40 |
A |
T |
16: 16,491,511 (GRCm39) |
D111E |
possibly damaging |
Het |
Or8u10 |
T |
A |
2: 85,916,044 (GRCm39) |
I26F |
probably benign |
Het |
Or9g20 |
C |
T |
2: 85,630,362 (GRCm39) |
C84Y |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,657 (GRCm39) |
V216A |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,400,199 (GRCm39) |
K717E |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,924,945 (GRCm39) |
H293Q |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,859,286 (GRCm39) |
D74G |
possibly damaging |
Het |
Plekhg6 |
T |
C |
6: 125,350,081 (GRCm39) |
T286A |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,424,903 (GRCm39) |
L180Q |
probably damaging |
Het |
Prkag2 |
A |
C |
5: 25,083,758 (GRCm39) |
M75R |
probably damaging |
Het |
Prl7c1 |
T |
A |
13: 27,960,261 (GRCm39) |
M94L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,864,628 (GRCm39) |
I548V |
probably benign |
Het |
Ptprr |
T |
C |
10: 116,088,769 (GRCm39) |
W307R |
probably damaging |
Het |
Rab29 |
T |
C |
1: 131,797,700 (GRCm39) |
S52P |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,493 (GRCm39) |
F1505L |
probably damaging |
Het |
Scn8a |
C |
T |
15: 100,869,484 (GRCm39) |
A209V |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,474,142 (GRCm39) |
|
probably null |
Het |
Slc17a5 |
C |
A |
9: 78,466,388 (GRCm39) |
V269L |
possibly damaging |
Het |
Slc2a9 |
T |
C |
5: 38,556,049 (GRCm39) |
N299S |
probably damaging |
Het |
Slc41a2 |
T |
A |
10: 83,137,085 (GRCm39) |
H274L |
probably damaging |
Het |
Suco |
A |
T |
1: 161,691,528 (GRCm39) |
D43E |
probably benign |
Het |
Tacr2 |
T |
A |
10: 62,088,958 (GRCm39) |
I121N |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,804,888 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
T |
C |
3: 22,254,522 (GRCm39) |
F322L |
possibly damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tmprss12 |
T |
C |
15: 100,187,185 (GRCm39) |
V217A |
probably damaging |
Het |
Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn1r71 |
A |
T |
7: 10,482,175 (GRCm39) |
I105K |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,663 (GRCm39) |
F168L |
probably benign |
Het |
Zfp945 |
C |
T |
17: 23,070,144 (GRCm39) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTTGCTGCTCAGATGGG -3'
(R):5'- TTAGCAAGGTAAAGAGGCACCC -3'
Sequencing Primer
(F):5'- GGACATTTTGGTTCCAGTGTTTG -3'
(R):5'- ACCACTGGCTGTGTGCATAC -3'
|
Posted On |
2015-06-10 |