Incidental Mutation 'IGL02351:Rwdd2b'
ID289487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rwdd2b
Ensembl Gene ENSMUSG00000041079
Gene NameRWD domain containing 2B
SynonymsORF5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02351
Quality Score
Status
Chromosome16
Chromosomal Location87433407-87440573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 87437448 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 18 (A18V)
Ref Sequence ENSEMBL: ENSMUSP00000049168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039101] [ENSMUST00000039449] [ENSMUST00000232095]
Predicted Effect probably benign
Transcript: ENSMUST00000039101
AA Change: A18V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049168
Gene: ENSMUSG00000041079
AA Change: A18V

DomainStartEndE-ValueType
RWD 12 136 3.17e-24 SMART
Pfam:DUF1115 162 284 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039449
SMART Domains Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299

DomainStartEndE-ValueType
low complexity region 160 176 N/A INTRINSIC
low complexity region 400 410 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
low complexity region 553 569 N/A INTRINSIC
low complexity region 815 832 N/A INTRINSIC
low complexity region 1380 1392 N/A INTRINSIC
low complexity region 1427 1451 N/A INTRINSIC
RING 1716 1762 1.05e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231843
Predicted Effect probably benign
Transcript: ENSMUST00000232095
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Rwdd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02000:Rwdd2b APN 16 87436940 unclassified probably benign
IGL02358:Rwdd2b APN 16 87437448 missense probably benign 0.06
R1022:Rwdd2b UTSW 16 87436850 missense probably damaging 1.00
R1024:Rwdd2b UTSW 16 87436850 missense probably damaging 1.00
R1086:Rwdd2b UTSW 16 87436558 unclassified probably benign
R1886:Rwdd2b UTSW 16 87437125 missense probably benign 0.08
R2359:Rwdd2b UTSW 16 87436921 missense probably benign 0.06
R4308:Rwdd2b UTSW 16 87436727 missense probably damaging 1.00
R4495:Rwdd2b UTSW 16 87434562 missense probably benign 0.00
R4680:Rwdd2b UTSW 16 87437062 critical splice donor site probably null
R4943:Rwdd2b UTSW 16 87434534 missense possibly damaging 0.54
R6260:Rwdd2b UTSW 16 87434468 missense probably damaging 1.00
R7622:Rwdd2b UTSW 16 87434612 missense probably benign 0.03
R7768:Rwdd2b UTSW 16 87436745 missense probably benign 0.01
R8100:Rwdd2b UTSW 16 87436621 missense possibly damaging 0.90
RF022:Rwdd2b UTSW 16 87436670 missense probably benign 0.01
Posted On2015-04-16