Incidental Mutation 'R6566:Wdr7'
ID 522717
Institutional Source Beutler Lab
Gene Symbol Wdr7
Ensembl Gene ENSMUSG00000040560
Gene Name WD repeat domain 7
Synonyms TGF-beta resistance associated gene, TRAG
MMRRC Submission 044690-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6566 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 63841756-64122847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63888126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 533 (I533S)
Ref Sequence ENSEMBL: ENSMUSP00000072509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072726]
AlphaFold Q920I9
Predicted Effect possibly damaging
Transcript: ENSMUST00000072726
AA Change: I533S

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: I533S

DomainStartEndE-ValueType
WD40 5 47 1.2e-2 SMART
WD40 53 95 3.71e-1 SMART
Blast:WD40 145 190 1e-18 BLAST
WD40 208 242 1.77e2 SMART
WD40 453 498 3.81e-5 SMART
WD40 501 546 4.26e1 SMART
WD40 549 588 1.63e-4 SMART
low complexity region 760 777 N/A INTRINSIC
low complexity region 915 927 N/A INTRINSIC
low complexity region 956 970 N/A INTRINSIC
low complexity region 1020 1040 N/A INTRINSIC
low complexity region 1181 1192 N/A INTRINSIC
Blast:WD40 1341 1380 5e-20 BLAST
WD40 1382 1422 2.73e-6 SMART
Meta Mutation Damage Score 0.7371 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,321 (GRCm39) I164T probably damaging Het
Adad2 C T 8: 120,340,971 (GRCm39) P164S probably benign Het
Adcy3 T A 12: 4,244,324 (GRCm39) L278H probably damaging Het
Aldh16a1 A C 7: 44,792,651 (GRCm39) D670E probably benign Het
Bcat1 A G 6: 144,961,210 (GRCm39) M131T probably damaging Het
Dcstamp T C 15: 39,617,732 (GRCm39) F47S possibly damaging Het
Dsg1b T C 18: 20,530,499 (GRCm39) F385L probably damaging Het
Exoc8 A C 8: 125,622,783 (GRCm39) L528R probably damaging Het
Fat4 T C 3: 39,011,275 (GRCm39) V2125A possibly damaging Het
Gm57859 C T 11: 113,578,824 (GRCm39) P73L probably damaging Het
Hecw1 T C 13: 14,471,868 (GRCm39) D600G probably damaging Het
Ice2 G A 9: 69,323,511 (GRCm39) V669I probably benign Het
Khdc4 C T 3: 88,618,961 (GRCm39) T555M probably damaging Het
Lsr T A 7: 30,671,508 (GRCm39) Y75F possibly damaging Het
Mrps30 C A 13: 118,523,662 (GRCm39) V37L probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or6c217 T A 10: 129,737,947 (GRCm39) I211L probably benign Het
Pign A G 1: 105,565,906 (GRCm39) probably null Het
Plcd3 A G 11: 102,964,626 (GRCm39) Y582H probably damaging Het
Rad9b A G 5: 122,490,630 (GRCm39) W29R probably damaging Het
Rb1cc1 T A 1: 6,319,316 (GRCm39) F912I probably benign Het
Rgs16 C T 1: 153,619,546 (GRCm39) S184L unknown Het
Runx2 A G 17: 45,125,375 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,794 (GRCm39) I163F probably damaging Het
Serpina9 T C 12: 103,963,296 (GRCm39) E404G possibly damaging Het
Slc4a4 T C 5: 89,297,192 (GRCm39) S511P possibly damaging Het
Speg A T 1: 75,365,107 (GRCm39) E390V probably damaging Het
Syne3 A G 12: 104,912,966 (GRCm39) V614A probably benign Het
Tmc5 T C 7: 118,247,067 (GRCm39) S524P probably damaging Het
Tuba4a G A 1: 75,193,930 (GRCm39) T51I probably damaging Het
Tymp T A 15: 89,257,803 (GRCm39) T421S probably benign Het
Uvssa A G 5: 33,549,520 (GRCm39) R394G possibly damaging Het
Zbtb5 G A 4: 44,994,508 (GRCm39) T292M probably damaging Het
Zfp944 T G 17: 22,558,726 (GRCm39) K174Q possibly damaging Het
Other mutations in Wdr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Wdr7 APN 18 63,853,846 (GRCm39) missense possibly damaging 0.83
IGL00708:Wdr7 APN 18 63,911,104 (GRCm39) missense probably benign 0.42
IGL00813:Wdr7 APN 18 63,868,675 (GRCm39) missense possibly damaging 0.84
IGL00840:Wdr7 APN 18 64,060,398 (GRCm39) missense possibly damaging 0.80
IGL00904:Wdr7 APN 18 63,929,302 (GRCm39) missense probably benign 0.43
IGL00930:Wdr7 APN 18 63,873,315 (GRCm39) nonsense probably null
IGL01481:Wdr7 APN 18 63,872,250 (GRCm39) missense probably damaging 1.00
IGL02121:Wdr7 APN 18 63,910,616 (GRCm39) nonsense probably null
IGL02346:Wdr7 APN 18 63,998,407 (GRCm39) missense probably benign 0.09
IGL02454:Wdr7 APN 18 63,929,299 (GRCm39) missense probably benign 0.20
IGL02538:Wdr7 APN 18 63,929,306 (GRCm39) missense probably benign 0.01
IGL02870:Wdr7 APN 18 63,924,914 (GRCm39) missense probably benign
IGL03054:Wdr7 APN 18 63,958,192 (GRCm39) splice site probably benign
IGL03189:Wdr7 APN 18 63,893,672 (GRCm39) missense probably benign 0.17
R0014:Wdr7 UTSW 18 64,037,172 (GRCm39) missense probably benign 0.03
R0022:Wdr7 UTSW 18 63,910,705 (GRCm39) missense probably damaging 1.00
R0233:Wdr7 UTSW 18 64,037,172 (GRCm39) missense probably benign 0.03
R0432:Wdr7 UTSW 18 63,929,320 (GRCm39) missense probably damaging 0.96
R0496:Wdr7 UTSW 18 63,924,914 (GRCm39) missense probably benign
R0633:Wdr7 UTSW 18 63,998,371 (GRCm39) missense probably benign 0.00
R0931:Wdr7 UTSW 18 63,998,371 (GRCm39) missense probably benign 0.00
R1585:Wdr7 UTSW 18 64,057,989 (GRCm39) missense probably benign 0.03
R1651:Wdr7 UTSW 18 63,853,847 (GRCm39) nonsense probably null
R1804:Wdr7 UTSW 18 63,998,511 (GRCm39) missense probably damaging 1.00
R1874:Wdr7 UTSW 18 63,861,575 (GRCm39) missense probably benign 0.02
R1985:Wdr7 UTSW 18 63,893,654 (GRCm39) frame shift probably null
R2106:Wdr7 UTSW 18 63,911,109 (GRCm39) missense probably damaging 1.00
R2206:Wdr7 UTSW 18 63,910,678 (GRCm39) missense possibly damaging 0.95
R2207:Wdr7 UTSW 18 63,910,678 (GRCm39) missense possibly damaging 0.95
R2245:Wdr7 UTSW 18 64,057,980 (GRCm39) missense possibly damaging 0.60
R2407:Wdr7 UTSW 18 63,893,794 (GRCm39) missense probably benign
R3804:Wdr7 UTSW 18 63,853,907 (GRCm39) missense probably benign
R3880:Wdr7 UTSW 18 63,857,226 (GRCm39) missense possibly damaging 0.92
R4410:Wdr7 UTSW 18 63,911,320 (GRCm39) missense probably damaging 1.00
R4441:Wdr7 UTSW 18 63,888,281 (GRCm39) missense probably damaging 1.00
R4485:Wdr7 UTSW 18 63,910,621 (GRCm39) missense possibly damaging 0.89
R4606:Wdr7 UTSW 18 63,913,016 (GRCm39) nonsense probably null
R4607:Wdr7 UTSW 18 63,910,651 (GRCm39) missense probably benign 0.28
R4608:Wdr7 UTSW 18 63,910,651 (GRCm39) missense probably benign 0.28
R4711:Wdr7 UTSW 18 63,861,536 (GRCm39) missense probably benign
R4852:Wdr7 UTSW 18 63,911,020 (GRCm39) missense probably damaging 0.98
R5197:Wdr7 UTSW 18 63,871,937 (GRCm39) missense probably benign 0.02
R5213:Wdr7 UTSW 18 63,888,197 (GRCm39) missense probably damaging 1.00
R5280:Wdr7 UTSW 18 64,120,383 (GRCm39) missense probably benign 0.35
R5378:Wdr7 UTSW 18 63,958,310 (GRCm39) critical splice donor site probably null
R6076:Wdr7 UTSW 18 63,872,348 (GRCm39) missense probably damaging 1.00
R6083:Wdr7 UTSW 18 63,861,540 (GRCm39) missense probably damaging 1.00
R6168:Wdr7 UTSW 18 63,911,048 (GRCm39) missense probably damaging 0.98
R6234:Wdr7 UTSW 18 63,857,203 (GRCm39) missense probably damaging 1.00
R6295:Wdr7 UTSW 18 63,888,182 (GRCm39) missense probably damaging 1.00
R6548:Wdr7 UTSW 18 63,911,322 (GRCm39) missense possibly damaging 0.87
R6696:Wdr7 UTSW 18 63,872,401 (GRCm39) missense probably benign 0.07
R6937:Wdr7 UTSW 18 63,924,938 (GRCm39) missense probably benign
R6962:Wdr7 UTSW 18 63,998,359 (GRCm39) missense possibly damaging 0.74
R7162:Wdr7 UTSW 18 63,857,210 (GRCm39) missense possibly damaging 0.92
R7376:Wdr7 UTSW 18 63,910,691 (GRCm39) missense probably damaging 1.00
R7423:Wdr7 UTSW 18 63,910,451 (GRCm39) splice site probably null
R7781:Wdr7 UTSW 18 63,910,860 (GRCm39) nonsense probably null
R7851:Wdr7 UTSW 18 63,853,398 (GRCm39) missense probably benign 0.05
R7962:Wdr7 UTSW 18 64,037,157 (GRCm39) missense probably damaging 1.00
R8310:Wdr7 UTSW 18 63,868,756 (GRCm39) missense probably damaging 0.98
R8325:Wdr7 UTSW 18 63,911,535 (GRCm39) splice site probably null
R8520:Wdr7 UTSW 18 64,120,231 (GRCm39) missense probably benign 0.09
R8678:Wdr7 UTSW 18 63,910,768 (GRCm39) missense probably damaging 1.00
R8847:Wdr7 UTSW 18 63,872,293 (GRCm39) missense probably damaging 1.00
R9326:Wdr7 UTSW 18 63,872,260 (GRCm39) missense probably benign 0.14
R9443:Wdr7 UTSW 18 63,853,407 (GRCm39) missense probably damaging 1.00
R9487:Wdr7 UTSW 18 63,910,939 (GRCm39) missense possibly damaging 0.51
R9652:Wdr7 UTSW 18 63,860,826 (GRCm39) missense probably damaging 1.00
R9657:Wdr7 UTSW 18 64,057,918 (GRCm39) missense probably damaging 1.00
R9710:Wdr7 UTSW 18 63,927,317 (GRCm39) missense possibly damaging 0.76
R9784:Wdr7 UTSW 18 64,037,236 (GRCm39) missense probably damaging 1.00
R9790:Wdr7 UTSW 18 63,911,059 (GRCm39) missense probably damaging 1.00
R9791:Wdr7 UTSW 18 63,911,059 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACGAAAGCTCTCTTTGG -3'
(R):5'- TACCAGTGTCCATCTGCCAG -3'

Sequencing Primer
(F):5'- GCATATCTATTTGAACCAGGAACTTC -3'
(R):5'- GTGTCCATCTGCCAGACATAC -3'
Posted On 2018-06-06