Incidental Mutation 'R2138:Tdrd1'
| ID |
236012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
040141-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R2138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56831021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 279
(S279T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078723
AA Change: S279T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: S279T
| 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 benign
Transcript: ENSMUST00000111604
AA Change: S279T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: S279T
| 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 benign
Transcript: ENSMUST00000111606
AA Change: S279T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: S279T
| 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 benign
Transcript: ENSMUST00000121249
AA Change: S279T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: S279T
| 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: 98.7%
- 10x: 97.4%
- 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,122 (GRCm39) |
V6A |
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,630,475 (GRCm39) |
F1262L |
probably damaging |
Het |
| Acot13 |
A |
T |
13: 25,002,188 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,593,439 (GRCm39) |
I4183V |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,263,339 (GRCm39) |
S120A |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,647,506 (GRCm39) |
E250G |
probably damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,575,914 (GRCm39) |
D382V |
probably damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,978,111 (GRCm39) |
I577F |
probably damaging |
Het |
| Arl6 |
A |
G |
16: 59,442,830 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,773,268 (GRCm39) |
M333K |
probably benign |
Het |
| Atp8b3 |
C |
A |
10: 80,362,939 (GRCm39) |
A635S |
possibly damaging |
Het |
| Baiap2 |
A |
G |
11: 119,847,928 (GRCm39) |
T19A |
possibly damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,645 (GRCm39) |
D206G |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,457,293 (GRCm39) |
M85K |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 123,000,937 (GRCm39) |
N217D |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,979,088 (GRCm39) |
Y2832C |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,449,189 (GRCm39) |
I962T |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,796,619 (GRCm39) |
Y852C |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dusp12 |
G |
A |
1: 170,708,166 (GRCm39) |
Q114* |
probably null |
Het |
| Elfn2 |
G |
T |
15: 78,558,238 (GRCm39) |
T103K |
probably benign |
Het |
| Eme1 |
A |
T |
11: 94,539,018 (GRCm39) |
V314E |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,514,875 (GRCm39) |
E4G |
probably damaging |
Het |
| Exoc6b |
A |
T |
6: 84,966,464 (GRCm39) |
L170Q |
probably damaging |
Het |
| Fbln5 |
C |
T |
12: 101,728,179 (GRCm39) |
M261I |
probably benign |
Het |
| Fgf22 |
T |
C |
10: 79,592,435 (GRCm39) |
V64A |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,259,420 (GRCm39) |
S401R |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,622 (GRCm39) |
S722R |
probably damaging |
Het |
| Gm10754 |
A |
T |
10: 97,518,132 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
G |
A |
6: 64,322,782 (GRCm39) |
R594Q |
probably damaging |
Het |
| Grm7 |
C |
A |
6: 110,623,098 (GRCm39) |
N90K |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,377,589 (GRCm39) |
V3452M |
possibly damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Klra3 |
A |
T |
6: 130,310,121 (GRCm39) |
V133D |
probably benign |
Het |
| Lims2 |
A |
G |
18: 32,088,460 (GRCm39) |
E220G |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,875,648 (GRCm39) |
I34K |
possibly damaging |
Het |
| Mgam |
C |
T |
6: 40,733,384 (GRCm39) |
P839S |
probably damaging |
Het |
| Mmp9 |
G |
T |
2: 164,794,387 (GRCm39) |
E460* |
probably null |
Het |
| Mov10 |
T |
C |
3: 104,711,558 (GRCm39) |
H316R |
probably benign |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,774,633 (GRCm39) |
S2082P |
probably benign |
Het |
| Myrfl |
G |
A |
10: 116,631,443 (GRCm39) |
T706I |
probably benign |
Het |
| Nampt |
C |
A |
12: 32,888,421 (GRCm39) |
H191N |
possibly damaging |
Het |
| Niban1 |
G |
A |
1: 151,572,002 (GRCm39) |
V316M |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,903,102 (GRCm39) |
E693G |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,894,491 (GRCm39) |
Y1191* |
probably null |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or1r1 |
A |
T |
11: 73,875,129 (GRCm39) |
Y102N |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,069 (GRCm39) |
Y259H |
probably damaging |
Het |
| Osbpl10 |
A |
G |
9: 115,061,202 (GRCm39) |
N760S |
probably benign |
Het |
| Otof |
A |
G |
5: 30,619,114 (GRCm39) |
V10A |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,364,853 (GRCm39) |
E664A |
probably damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,161 (GRCm39) |
S178P |
probably damaging |
Het |
| Pvr |
G |
A |
7: 19,650,927 (GRCm39) |
T199I |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,794 (GRCm39) |
V173A |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,810,070 (GRCm39) |
R155H |
probably damaging |
Het |
| Slco6d1 |
G |
T |
1: 98,371,385 (GRCm39) |
R290L |
probably benign |
Het |
| Snx32 |
A |
G |
19: 5,546,157 (GRCm39) |
V335A |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,260 (GRCm39) |
V1669A |
possibly damaging |
Het |
| Speer1f |
A |
T |
5: 11,469,052 (GRCm39) |
R68* |
probably null |
Het |
| Tbata |
C |
T |
10: 61,015,063 (GRCm39) |
T116I |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,471,072 (GRCm39) |
Y515* |
probably null |
Het |
| Tmem102 |
T |
G |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Tmem169 |
A |
G |
1: 72,340,155 (GRCm39) |
N195S |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,802,537 (GRCm39) |
S613T |
probably damaging |
Het |
| Tnfaip6 |
A |
T |
2: 51,942,344 (GRCm39) |
I218F |
possibly damaging |
Het |
| Tube1 |
C |
A |
10: 39,023,347 (GRCm39) |
H331Q |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,732,714 (GRCm39) |
T998I |
possibly damaging |
Het |
| Xpc |
A |
T |
6: 91,475,104 (GRCm39) |
Y638* |
probably null |
Het |
| Zdhhc4 |
A |
T |
5: 143,310,017 (GRCm39) |
Y80* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTTCCTAGGCATGGATGAGATC -3'
(R):5'- TAGCTCCGTTGTCATGAGCTG -3'
Sequencing Primer
(F):5'- CCTAGGCATGGATGAGATCTTATTAC -3'
(R):5'- CCCAGTGAGGTAAGTTGAAGCATTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation