Incidental Mutation 'R9321:Tdrd1'
| ID |
706241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R9321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56848767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 939
(L939P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| PDB Structure |
Structure of extended Tudor domain TD3 from mouse TDRD1 in complex with MILI peptide containing dimethylarginine 45. [X-RAY DIFFRACTION]
Structure of extended Tudor domain TD3 from mouse TDRD1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078723
AA Change: L939P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: L939P
| 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: L939P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: L939P
| 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: L939P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: L939P
| 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: L939P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: L939P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,460,475 (GRCm39) |
S4162G |
probably benign |
Het |
| Acvr2b |
T |
C |
9: 119,257,351 (GRCm39) |
I152T |
probably benign |
Het |
| Adam15 |
T |
A |
3: 89,254,794 (GRCm39) |
|
probably null |
Het |
| Adam34 |
C |
T |
8: 44,105,243 (GRCm39) |
G134D |
probably damaging |
Het |
| Aifm2 |
C |
T |
10: 61,571,410 (GRCm39) |
Q315* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,791,235 (GRCm39) |
F408S |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,114,252 (GRCm39) |
|
probably null |
Het |
| Btbd2 |
A |
C |
10: 80,483,675 (GRCm39) |
V181G |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,425 (GRCm39) |
G1070V |
|
Het |
| Ceacam2 |
G |
T |
7: 25,230,089 (GRCm39) |
D172E |
possibly damaging |
Het |
| Crtc3 |
G |
A |
7: 80,259,650 (GRCm39) |
A203V |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,531,100 (GRCm39) |
S749P |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,338,939 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
G |
A |
2: 118,292,798 (GRCm39) |
V1341M |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,393,689 (GRCm39) |
V295A |
possibly damaging |
Het |
| Gm1110 |
T |
A |
9: 26,831,891 (GRCm39) |
M87L |
probably benign |
Het |
| Gm57858 |
A |
T |
3: 36,073,139 (GRCm39) |
V381E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,969 (GRCm39) |
L241P |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,320 (GRCm39) |
T145A |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,524,534 (GRCm39) |
S138P |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,000 (GRCm39) |
S41G |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,779,793 (GRCm39) |
D222N |
possibly damaging |
Het |
| Ldb3 |
C |
A |
14: 34,266,099 (GRCm39) |
G499* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,034,935 (GRCm39) |
F577S |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,991 (GRCm39) |
I177V |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,170,901 (GRCm39) |
T323K |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,113 (GRCm39) |
V301A |
probably benign |
Het |
| Mtx3 |
T |
A |
13: 92,984,097 (GRCm39) |
W125R |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,733,370 (GRCm39) |
G1404R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,172,464 (GRCm39) |
P1188S |
possibly damaging |
Het |
| Nars1 |
C |
T |
18: 64,637,950 (GRCm39) |
E335K |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,707,494 (GRCm39) |
V16E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nme5 |
T |
G |
18: 34,704,597 (GRCm39) |
I83L |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,438,378 (GRCm39) |
L13P |
unknown |
Het |
| Or11g27 |
G |
A |
14: 50,771,471 (GRCm39) |
V201I |
probably benign |
Het |
| Or13c25 |
G |
T |
4: 52,911,314 (GRCm39) |
T160N |
probably damaging |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,777,792 (GRCm39) |
V39D |
possibly damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,434 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,297 (GRCm39) |
I46F |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,518,370 (GRCm39) |
Y319H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,386,023 (GRCm39) |
T916A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,209,549 (GRCm39) |
N615S |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,434 (GRCm39) |
I248V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,889,969 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,804,654 (GRCm39) |
M720T |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,661 (GRCm39) |
H58R |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,803,688 (GRCm39) |
D239E |
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,825,095 (GRCm39) |
M331L |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,656,290 (GRCm39) |
T229A |
probably benign |
Het |
| Timd2 |
T |
C |
11: 46,577,916 (GRCm39) |
T72A |
probably benign |
Het |
| Tmem179 |
G |
T |
12: 112,477,390 (GRCm39) |
N31K |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,189 (GRCm39) |
S165G |
|
Het |
| Tubgcp6 |
T |
C |
15: 88,992,186 (GRCm39) |
T600A |
probably damaging |
Het |
| Txlna |
T |
A |
4: 129,528,246 (GRCm39) |
E230D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,089,148 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,665,094 (GRCm39) |
M40K |
possibly damaging |
Het |
| Zfp592 |
C |
T |
7: 80,691,226 (GRCm39) |
S1135L |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,226,610 (GRCm39) |
T244A |
possibly 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 |
|
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 |
|
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'- TGATTTGTGAAACAGACACCCAAC -3'
(R):5'- CTGGGTTACACTTCTTGACAAGC -3'
Sequencing Primer
(F):5'- CCAACATGGGAACTCTGATGTG -3'
(R):5'- GGGTTACACTTCTTGACAAGCATCAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation