Incidental Mutation 'R0733:Rwdd3'
ID67091
Institutional Source Beutler Lab
Gene Symbol Rwdd3
Ensembl Gene ENSMUSG00000028133
Gene NameRWD domain containing 3
Synonyms
MMRRC Submission 038914-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0733 (G1)
Quality Score151
Status Validated
Chromosome3
Chromosomal Location121155398-121171695 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121171607 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 24 (M24V)
Ref Sequence ENSEMBL: ENSMUSP00000129262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039761] [ENSMUST00000106466] [ENSMUST00000106467] [ENSMUST00000164925] [ENSMUST00000170781]
Predicted Effect probably benign
Transcript: ENSMUST00000039761
AA Change: M24V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040826
Gene: ENSMUSG00000028133
AA Change: M24V

DomainStartEndE-ValueType
RWD 7 114 3.63e-10 SMART
Pfam:DUF1115 144 262 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106465
Predicted Effect probably benign
Transcript: ENSMUST00000106466
AA Change: M24V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102074
Gene: ENSMUSG00000028133
AA Change: M24V

DomainStartEndE-ValueType
RWD 7 114 3.63e-10 SMART
Pfam:DUF1115 144 262 1.7e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000106467
AA Change: M24V
SMART Domains Protein: ENSMUSP00000102075
Gene: ENSMUSG00000028133
AA Change: M24V

DomainStartEndE-ValueType
RWD 7 186 1.52e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164925
SMART Domains Protein: ENSMUSP00000133036
Gene: ENSMUSG00000028133

DomainStartEndE-ValueType
PDB:2EBK|A 1 23 2e-6 PDB
Blast:RWD 26 111 6e-42 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000170781
AA Change: M24V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129262
Gene: ENSMUSG00000028133
AA Change: M24V

DomainStartEndE-ValueType
RWD 7 114 3.63e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199790
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,682,932 T1056S possibly damaging Het
Abl1 A G 2: 31,778,945 Y88C probably damaging Het
Acbd3 A G 1: 180,752,218 I476V possibly damaging Het
Apba2 T C 7: 64,750,164 I689T probably damaging Het
AU018091 A G 7: 3,159,161 Y362H probably damaging Het
Cdh26 T C 2: 178,486,931 S759P probably damaging Het
Clcc1 A G 3: 108,674,740 Q387R probably benign Het
Cobl C T 11: 12,365,167 G259R probably benign Het
Col4a1 C T 8: 11,218,934 R968Q possibly damaging Het
Ddr2 A G 1: 170,004,812 probably benign Het
Dera C A 6: 137,796,848 N201K probably damaging Het
Dsg1a A C 18: 20,338,668 E659A probably damaging Het
Dus2 G T 8: 106,046,070 probably null Het
Ears2 T A 7: 122,048,129 I311F possibly damaging Het
Eml4 T A 17: 83,454,464 M417K possibly damaging Het
Exosc4 A T 15: 76,329,416 M147L probably benign Het
Fam171a2 T A 11: 102,439,722 Y278F possibly damaging Het
Fastk A C 5: 24,443,923 H155Q probably null Het
Fem1b G T 9: 62,796,843 N378K possibly damaging Het
Fut11 C A 14: 20,695,359 Y119* probably null Het
Gatsl2 T C 5: 134,136,215 F208L possibly damaging Het
Gm6797 T C X: 8,645,149 noncoding transcript Het
Gstt4 T C 10: 75,817,314 D138G probably benign Het
Hprt G A X: 53,002,150 C66Y probably damaging Het
Inpp5d T A 1: 87,668,077 probably benign Het
Ints6l T A X: 56,501,748 S621T probably benign Het
Ints6l C G X: 56,504,812 A699G probably benign Het
Kctd3 A G 1: 188,997,050 probably benign Het
Kntc1 G T 5: 123,790,916 V1252L probably null Het
Lama5 A T 2: 180,180,718 M2854K possibly damaging Het
Lcn5 G T 2: 25,661,101 L187F probably damaging Het
Lrp3 A T 7: 35,202,120 L758M possibly damaging Het
Ltn1 T A 16: 87,412,507 I740F probably benign Het
Mcm5 A G 8: 75,127,248 K710R probably benign Het
Mllt10 A G 2: 18,203,766 probably benign Het
Nbr1 T A 11: 101,576,371 M864K probably benign Het
Nkiras2 T C 11: 100,624,932 probably null Het
Nlrp4d T A 7: 10,382,522 E144V probably benign Het
Nppc T C 1: 86,669,634 probably benign Het
Ormdl2 T A 10: 128,819,999 Q94L probably damaging Het
Paox G C 7: 140,127,527 D88H probably damaging Het
Papd4 T A 13: 93,155,039 Q365L probably benign Het
Prl7a2 T C 13: 27,662,688 E114G probably damaging Het
Prpsap2 A G 11: 61,741,000 I177T possibly damaging Het
Prss54 T C 8: 95,559,740 D235G possibly damaging Het
Serpinb6e T A 13: 33,841,218 N30I probably benign Het
Sh3rf1 G A 8: 61,372,560 A530T probably benign Het
Slc28a1 T C 7: 81,124,900 I165T probably benign Het
Slco6d1 T A 1: 98,428,269 L143* probably null Het
Snrnp40 C G 4: 130,378,043 probably null Het
Snx27 A G 3: 94,562,013 L7P probably benign Het
Spsb1 C T 4: 149,906,917 V65I probably benign Het
St8sia2 C T 7: 73,960,840 G232S probably benign Het
Sun1 A G 5: 139,231,163 H255R possibly damaging Het
Ube2k A G 5: 65,581,452 I95V probably damaging Het
Ube2m C A 7: 13,035,752 E126D probably damaging Het
Vmn2r27 A T 6: 124,192,188 M661K probably benign Het
Wdr47 A T 3: 108,618,623 D154V probably damaging Het
Zfp113 A G 5: 138,145,583 V135A probably benign Het
Other mutations in Rwdd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Rwdd3 APN 3 121171633 missense possibly damaging 0.79
IGL02367:Rwdd3 APN 3 121159030 missense probably damaging 0.99
R0466:Rwdd3 UTSW 3 121159019 missense possibly damaging 0.82
R4270:Rwdd3 UTSW 3 121158901 missense probably damaging 1.00
R4384:Rwdd3 UTSW 3 121158757 intron probably benign
R4650:Rwdd3 UTSW 3 121159177 missense probably damaging 1.00
R4960:Rwdd3 UTSW 3 121158821 missense probably damaging 1.00
R5061:Rwdd3 UTSW 3 121159783 intron probably benign
R6000:Rwdd3 UTSW 3 121156513 missense probably damaging 1.00
R6480:Rwdd3 UTSW 3 121156452 missense probably damaging 1.00
R7117:Rwdd3 UTSW 3 121171338 missense probably benign 0.21
R7471:Rwdd3 UTSW 3 121171312 missense probably benign 0.10
R7615:Rwdd3 UTSW 3 121171604 start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACAAATGCTTATGGTGGATGCCGAC -3'
(R):5'- ACAGAGGCCAAAACTCAGAAGGTTC -3'

Sequencing Primer
(F):5'- ATGCCGACTATTTGGAGGAGC -3'
(R):5'- TAAACACGCCCATCTcccc -3'
Posted On2013-09-03