Incidental Mutation 'R1022:Tatdn2'
| ID |
98780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tatdn2
|
| Ensembl Gene |
ENSMUSG00000056952 |
| Gene Name |
TatD DNase domain containing 2 |
| Synonyms |
mKIAA0218 |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113674090-113688030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113686506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 644
(T644A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089018]
[ENSMUST00000113022]
[ENSMUST00000153661]
[ENSMUST00000204753]
|
| AlphaFold |
B7ZNL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089018
AA Change: T644A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000086412
Gene: ENSMUSG00000056952
AA Change: T644A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
392 |
N/A |
INTRINSIC |
|
Pfam:TatD_DNase
|
457 |
721 |
3.3e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113022
AA Change: T705A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108645
Gene: ENSMUSG00000056952
AA Change: T705A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
453 |
N/A |
INTRINSIC |
|
Pfam:TatD_DNase
|
518 |
782 |
3.7e-61 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138420
AA Change: T68A
|
| SMART Domains |
Protein: ENSMUSP00000116559
Gene: ENSMUSG00000056952
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
1 |
146 |
2.9e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153661
|
| SMART Domains |
Protein: ENSMUSP00000123557
Gene: ENSMUSG00000056952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
1 |
122 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200187
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204753
AA Change: T705A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145308
Gene: ENSMUSG00000056952
AA Change: T705A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
453 |
N/A |
INTRINSIC |
|
Pfam:TatD_DNase
|
518 |
782 |
3.7e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
Het |
|
| Other mutations in Tatdn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Tatdn2
|
APN |
6 |
113,680,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL01335:Tatdn2
|
APN |
6 |
113,681,017 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01459:Tatdn2
|
APN |
6 |
113,686,992 (GRCm39) |
splice site |
probably null |
|
|
IGL02406:Tatdn2
|
APN |
6 |
113,681,174 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02728:Tatdn2
|
APN |
6 |
113,681,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Tatdn2
|
UTSW |
6 |
113,686,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Tatdn2
|
UTSW |
6 |
113,679,550 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0583:Tatdn2
|
UTSW |
6 |
113,679,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1024:Tatdn2
|
UTSW |
6 |
113,686,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Tatdn2
|
UTSW |
6 |
113,681,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Tatdn2
|
UTSW |
6 |
113,681,288 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1459:Tatdn2
|
UTSW |
6 |
113,687,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Tatdn2
|
UTSW |
6 |
113,674,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1771:Tatdn2
|
UTSW |
6 |
113,679,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2064:Tatdn2
|
UTSW |
6 |
113,681,103 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2065:Tatdn2
|
UTSW |
6 |
113,681,103 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2067:Tatdn2
|
UTSW |
6 |
113,681,103 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4446:Tatdn2
|
UTSW |
6 |
113,679,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4654:Tatdn2
|
UTSW |
6 |
113,684,326 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4888:Tatdn2
|
UTSW |
6 |
113,681,566 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7378:Tatdn2
|
UTSW |
6 |
113,681,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Tatdn2
|
UTSW |
6 |
113,687,235 (GRCm39) |
splice site |
probably null |
|
|
R8086:Tatdn2
|
UTSW |
6 |
113,686,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Tatdn2
|
UTSW |
6 |
113,684,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Tatdn2
|
UTSW |
6 |
113,681,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Tatdn2
|
UTSW |
6 |
113,687,125 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9234:Tatdn2
|
UTSW |
6 |
113,679,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGATGGCTGCCCACATTG -3'
(R):5'- ACCTATATCGCACAAGGTGGACCAG -3'
Sequencing Primer
(F):5'- TCAGTATCTGAACCTCATGCCAG -3'
(R):5'- CAGGAGGACACTGGGACTC -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation