Incidental Mutation 'R4446:Tatdn2'
| ID |
329892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tatdn2
|
| Ensembl Gene |
ENSMUSG00000056952 |
| Gene Name |
TatD DNase domain containing 2 |
| Synonyms |
mKIAA0218 |
| MMRRC Submission |
041707-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4446 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113674090-113688030 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 113679501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089018]
[ENSMUST00000113022]
[ENSMUST00000153661]
[ENSMUST00000204753]
|
| AlphaFold |
B7ZNL9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089018
|
| SMART Domains |
Protein: ENSMUSP00000086412
Gene: ENSMUSG00000056952
| 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 benign
Transcript: ENSMUST00000113022
AA Change: V282G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108645
Gene: ENSMUSG00000056952
AA Change: V282G
| 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 |
probably benign
Transcript: ENSMUST00000138420
|
| SMART Domains |
Protein: ENSMUSP00000116559
Gene: ENSMUSG00000056952
| 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 benign
Transcript: ENSMUST00000204753
AA Change: V282G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000145308
Gene: ENSMUSG00000056952
AA Change: V282G
| 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 |
|
| Meta Mutation Damage Score |
0.0877 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
91% (43/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,731 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,625,567 (GRCm39) |
R144H |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,182 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
A |
12: 3,551,774 (GRCm39) |
V1172E |
possibly damaging |
Het |
| Atp9a |
C |
T |
2: 168,523,917 (GRCm39) |
A242T |
possibly damaging |
Het |
| C2cd3 |
C |
T |
7: 100,023,684 (GRCm39) |
T90I |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,570,692 (GRCm39) |
S295P |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,955,645 (GRCm39) |
E1025G |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Dgkb |
G |
T |
12: 38,234,952 (GRCm39) |
G439V |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,865,523 (GRCm39) |
V20A |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,072,500 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,182,854 (GRCm39) |
N2035S |
probably damaging |
Het |
| Fzd1 |
A |
G |
5: 4,805,777 (GRCm39) |
Y602H |
probably damaging |
Het |
| Gm38706 |
C |
A |
6: 130,460,273 (GRCm39) |
|
noncoding transcript |
Het |
| Hmmr |
T |
C |
11: 40,606,148 (GRCm39) |
Q274R |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Klf5 |
C |
T |
14: 99,539,666 (GRCm39) |
R360C |
probably damaging |
Het |
| Lrat |
A |
G |
3: 82,804,293 (GRCm39) |
M228T |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,149 (GRCm39) |
K565N |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,294 (GRCm39) |
I144L |
probably benign |
Het |
| Or1ad6 |
C |
T |
11: 50,860,690 (GRCm39) |
P282S |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,588 (GRCm39) |
D274G |
probably benign |
Het |
| Pcdha6 |
A |
G |
18: 37,100,813 (GRCm39) |
D2G |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,938 (GRCm39) |
R464G |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel42 |
T |
A |
5: 94,685,702 (GRCm39) |
I454K |
probably damaging |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,505,979 (GRCm39) |
M596V |
probably damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,320,621 (GRCm39) |
K47E |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,089,114 (GRCm39) |
R716H |
possibly damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,132,186 (GRCm39) |
V216I |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,337,039 (GRCm39) |
Y356H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Umod |
A |
G |
7: 119,065,279 (GRCm39) |
|
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,312 (GRCm39) |
I102K |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
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 |
|
R1022:Tatdn2
|
UTSW |
6 |
113,686,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCATCCTGGGGAAGTCAATG -3'
(R):5'- CCTTTTGAATATCTGCATGAGAGTCAG -3'
Sequencing Primer
(F):5'- CAAGCTTGGGAGACTGTCCTAATC -3'
(R):5'- TCTGCATGAGAGTCAGAGTTATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation