Incidental Mutation 'IGL02406:Tatdn2'
| ID |
292069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tatdn2
|
| Ensembl Gene |
ENSMUSG00000056952 |
| Gene Name |
TatD DNase domain containing 2 |
| Synonyms |
mKIAA0218 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113674090-113688030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113681174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 402
(S402R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089018]
[ENSMUST00000113022]
[ENSMUST00000153661]
[ENSMUST00000204753]
|
| AlphaFold |
B7ZNL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089018
AA Change: S341R
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086412
Gene: ENSMUSG00000056952
AA Change: S341R
| 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: S402R
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108645
Gene: ENSMUSG00000056952
AA Change: S402R
| 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: S402R
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145308
Gene: ENSMUSG00000056952
AA Change: S402R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
| Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
| Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
| Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
| Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,302,654 (GRCm39) |
N268K |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
| Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
| Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
| Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
| Jhy |
A |
G |
9: 40,822,285 (GRCm39) |
Y618H |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
| Msantd2 |
G |
T |
9: 37,434,755 (GRCm39) |
V332L |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
| Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
| Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
| Ralgps2 |
G |
T |
1: 156,655,838 (GRCm39) |
A362E |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
| Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
| Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,681,525 (GRCm39) |
W243R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation