Incidental Mutation 'R4446:Tatdn2'
ID329892
Institutional Source Beutler Lab
Gene Symbol Tatdn2
Ensembl Gene ENSMUSG00000056952
Gene NameTatD DNase domain containing 2
SynonymsmKIAA0218
MMRRC Submission 041707-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4446 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location113697050-113711069 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 113702540 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089018] [ENSMUST00000113022] [ENSMUST00000153661] [ENSMUST00000204753]
Predicted Effect probably null
Transcript: ENSMUST00000089018
SMART Domains Protein: ENSMUSP00000086412
Gene: ENSMUSG00000056952

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:TatD_DNase 1 146 2.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153661
SMART Domains Protein: ENSMUSP00000123557
Gene: ENSMUSG00000056952

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,833,423 noncoding transcript Het
Adgrg6 A G 10: 14,409,763 S1160P probably damaging Het
Akt1 C T 12: 112,659,133 R144H probably benign Het
Arrdc3 T C 13: 80,889,063 probably benign Het
Asxl2 T A 12: 3,501,774 V1172E possibly damaging Het
Atp9a C T 2: 168,681,997 A242T possibly damaging Het
C2cd3 C T 7: 100,374,477 T90I probably damaging Het
C4bp A G 1: 130,642,955 S295P probably benign Het
Cdkl2 G A 5: 92,020,309 T342I probably benign Het
Cep131 T C 11: 120,064,819 E1025G probably damaging Het
Crot T C 5: 8,973,643 H415R probably damaging Het
Cyp17a1 A G 19: 46,668,023 F411L probably damaging Het
Dgkb G T 12: 38,184,953 G439V probably damaging Het
Dgkh A G 14: 78,628,083 V20A probably damaging Het
Dysf A G 6: 84,205,872 N2035S probably damaging Het
Fam69a T C 5: 107,924,634 Y52C probably damaging Het
Fzd1 A G 5: 4,755,777 Y602H probably damaging Het
Gm3139 T A 5: 94,537,843 I454K probably damaging Het
Gm38706 C A 6: 130,483,310 noncoding transcript Het
Hmmr T C 11: 40,715,321 Q274R probably damaging Het
Homer3 G A 8: 70,290,143 probably null Het
Igsf9b A G 9: 27,334,252 T1172A probably benign Het
Klf5 C T 14: 99,302,230 R360C probably damaging Het
Lrat A G 3: 82,896,986 M228T probably damaging Het
Mms19 A T 19: 41,963,933 M119K possibly damaging Het
Myo3a A T 2: 22,600,137 K565N probably damaging Het
Olfr1378 C T 11: 50,969,863 P282S probably damaging Het
Olfr148 A T 9: 39,613,998 I144L probably benign Het
Olfr411 T C 11: 74,346,762 D274G probably benign Het
Pcdha6 A G 18: 36,967,760 D2G probably benign Het
Pcdhga3 A G 18: 37,675,885 R464G probably damaging Het
Plxna2 C T 1: 194,749,317 S538F probably damaging Het
Rnf13 A C 3: 57,820,589 K230T probably damaging Het
Sema6d A G 2: 124,664,059 M596V probably damaging Het
Slc25a25 T C 2: 32,430,609 K47E probably benign Het
Sptbn1 C T 11: 30,139,114 R716H possibly damaging Het
Ssx2ip G A 3: 146,426,431 V216I probably benign Het
Tmprss6 A G 15: 78,452,839 Y356H probably damaging Het
Ttn A G 2: 76,856,866 probably benign Het
Umod A G 7: 119,466,056 probably null Het
Vmn2r93 T A 17: 18,304,050 I102K possibly damaging Het
Zdhhc6 T C 19: 55,302,737 I349V probably benign Het
Other mutations in Tatdn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Tatdn2 APN 6 113704024 splice site probably benign
IGL01335:Tatdn2 APN 6 113704056 missense probably benign 0.29
IGL01459:Tatdn2 APN 6 113710031 splice site probably null
IGL02406:Tatdn2 APN 6 113704213 missense probably benign 0.41
IGL02728:Tatdn2 APN 6 113704715 missense probably damaging 1.00
R0321:Tatdn2 UTSW 6 113709501 missense probably damaging 1.00
R0506:Tatdn2 UTSW 6 113702589 missense probably benign 0.13
R0583:Tatdn2 UTSW 6 113702525 missense possibly damaging 0.80
R1022:Tatdn2 UTSW 6 113709545 missense probably damaging 1.00
R1024:Tatdn2 UTSW 6 113709545 missense probably damaging 1.00
R1301:Tatdn2 UTSW 6 113704115 missense probably damaging 1.00
R1454:Tatdn2 UTSW 6 113704327 missense probably benign 0.26
R1459:Tatdn2 UTSW 6 113710070 missense probably damaging 1.00
R1710:Tatdn2 UTSW 6 113697927 missense possibly damaging 0.90
R1771:Tatdn2 UTSW 6 113702099 critical splice acceptor site probably null
R2064:Tatdn2 UTSW 6 113704142 missense probably benign 0.41
R2065:Tatdn2 UTSW 6 113704142 missense probably benign 0.41
R2067:Tatdn2 UTSW 6 113704142 missense probably benign 0.41
R4654:Tatdn2 UTSW 6 113707365 missense probably benign 0.09
R4888:Tatdn2 UTSW 6 113704605 missense possibly damaging 0.66
R7378:Tatdn2 UTSW 6 113704701 missense probably damaging 1.00
R7971:Tatdn2 UTSW 6 113710274 splice site probably null
R8086:Tatdn2 UTSW 6 113709521 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCCTGGGGAAGTCAATG -3'
(R):5'- CCTTTTGAATATCTGCATGAGAGTCAG -3'

Sequencing Primer
(F):5'- CAAGCTTGGGAGACTGTCCTAATC -3'
(R):5'- TCTGCATGAGAGTCAGAGTTATC -3'
Posted On2015-07-21