Incidental Mutation 'R6240:Tdrd1'
| ID |
505214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
044364-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R6240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56829767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 214
(S214P)
|
| 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: S214P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: S214P
| 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: S214P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: S214P
| 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: S214P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: S214P
| 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: S214P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: S214P
| 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 |
|
| Meta Mutation Damage Score |
0.1176 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
A |
14: 64,223,701 (GRCm39) |
R25L |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,045 (GRCm39) |
S185L |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,286,044 (GRCm39) |
D751V |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,766,544 (GRCm39) |
D405G |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,852,980 (GRCm39) |
D516G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,947 (GRCm39) |
D4077V |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,489,658 (GRCm39) |
R330Q |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,407,997 (GRCm39) |
V2170A |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,598,565 (GRCm39) |
L227F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,650,253 (GRCm39) |
I119V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,640 (GRCm39) |
S1618T |
probably benign |
Het |
| Cad |
T |
A |
5: 31,230,322 (GRCm39) |
M1512K |
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,713,226 (GRCm39) |
T172A |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,707 (GRCm39) |
N308S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,199,596 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,663,556 (GRCm39) |
S524P |
possibly damaging |
Het |
| Epha5 |
G |
C |
5: 84,265,438 (GRCm39) |
A452G |
probably benign |
Het |
| Fzd3 |
T |
C |
14: 65,447,304 (GRCm39) |
T542A |
probably damaging |
Het |
| Glyctk |
A |
T |
9: 106,033,461 (GRCm39) |
|
probably null |
Het |
| Gm10382 |
G |
A |
5: 125,466,660 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,904,281 (GRCm39) |
M127L |
probably benign |
Het |
| Hoxc10 |
T |
A |
15: 102,879,265 (GRCm39) |
W262R |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,454 (GRCm39) |
W52R |
possibly damaging |
Het |
| Jazf1 |
A |
T |
6: 52,754,537 (GRCm39) |
C180S |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,975,179 (GRCm39) |
W286R |
probably damaging |
Het |
| Kcnmb2 |
C |
T |
3: 32,236,045 (GRCm39) |
S98F |
probably damaging |
Het |
| Mob3a |
C |
G |
10: 80,525,698 (GRCm39) |
E204D |
possibly damaging |
Het |
| Morc3 |
C |
G |
16: 93,659,572 (GRCm39) |
H459D |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,964,126 (GRCm39) |
N876I |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,930 (GRCm39) |
T257S |
probably damaging |
Het |
| Nat1 |
A |
T |
8: 67,944,354 (GRCm39) |
R243S |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,194,955 (GRCm39) |
V17A |
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,668 (GRCm39) |
S75G |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,970 (GRCm39) |
I146T |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,707 (GRCm39) |
D82G |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,043 (GRCm39) |
V83A |
probably benign |
Het |
| Or6c70 |
C |
A |
10: 129,710,546 (GRCm39) |
V27L |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,704 (GRCm39) |
L753P |
probably damaging |
Het |
| Pcf11 |
T |
A |
7: 92,295,710 (GRCm39) |
E1446D |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,176 (GRCm39) |
I267V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,536,008 (GRCm39) |
Y571N |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,568 (GRCm39) |
V620E |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,570,506 (GRCm39) |
L363P |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,584,479 (GRCm39) |
T387A |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,297 (GRCm39) |
C61Y |
probably damaging |
Het |
| Rab18 |
T |
C |
18: 6,784,635 (GRCm39) |
Y109H |
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,779,027 (GRCm39) |
P358L |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,323,893 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
G |
A |
13: 50,855,453 (GRCm39) |
D364N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,883,061 (GRCm39) |
I13T |
probably benign |
Het |
| Tcf12 |
T |
A |
9: 71,851,298 (GRCm39) |
K110* |
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,504,216 (GRCm39) |
Y136C |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,123,179 (GRCm39) |
I448F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,000,337 (GRCm39) |
I335M |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,985,186 (GRCm39) |
T160A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,899 (GRCm39) |
N227D |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,226 (GRCm39) |
S203C |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,848 (GRCm39) |
T357A |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,180 (GRCm39) |
K220E |
probably damaging |
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 |
|
|
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 |
|
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'- TCATGGCAAGTCAGGGCTAC -3'
(R):5'- TGGCTCAAGGACATTTTGGG -3'
Sequencing Primer
(F):5'- AGGGCTACTGTTCTCCACACG -3'
(R):5'- CTCAAGGACATTTTGGGGAAAGATTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation