Incidental Mutation 'R9710:Wdr7'
ID 730121
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R9710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 63841756-64122847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63927317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 989 (M989K)
Ref Sequence ENSEMBL: ENSMUSP00000072509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072726]
AlphaFold Q920I9
Predicted Effect possibly damaging
Transcript: ENSMUST00000072726
AA Change: M989K

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: M989K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,852 (GRCm39) S250P probably benign Het
Ahcyl1 T A 3: 107,578,494 (GRCm39) I248F possibly damaging Het
Alpk2 T A 18: 65,482,646 (GRCm39) E454V probably damaging Het
Ank3 A T 10: 69,829,070 (GRCm39) T2580S Het
Anks1 G A 17: 28,128,571 (GRCm39) G46R possibly damaging Het
Arhgap45 A G 10: 79,857,635 (GRCm39) E322G probably damaging Het
Arhgef2 T C 3: 88,528,576 (GRCm39) I4T probably benign Het
C1qtnf4 T C 2: 90,720,351 (GRCm39) I208T probably damaging Het
Cachd1 T A 4: 100,832,092 (GRCm39) N751K probably benign Het
Cacna1a G T 8: 85,320,808 (GRCm39) V1589F possibly damaging Het
Cacnb1 T C 11: 97,902,197 (GRCm39) H205R probably benign Het
Castor1 A G 11: 4,169,015 (GRCm39) K61E probably benign Het
Ccdc9b G T 2: 118,591,077 (GRCm39) A152E probably benign Het
Clvs2 C A 10: 33,389,307 (GRCm39) R311L probably benign Het
Crim1 G T 17: 78,610,504 (GRCm39) G320* probably null Het
Crtam A T 9: 40,895,671 (GRCm39) D218E probably benign Het
Cwc27 G A 13: 104,943,158 (GRCm39) T128I probably damaging Het
Cyp4a14 T A 4: 115,349,347 (GRCm39) I238F probably benign Het
D930020B18Rik A C 10: 121,503,563 (GRCm39) E246A probably benign Het
Dsg1c T A 18: 20,410,044 (GRCm39) V504E probably benign Het
Enpp6 T A 8: 47,518,948 (GRCm39) S239T probably damaging Het
Eri2 A T 7: 119,384,824 (GRCm39) I559N probably benign Het
Fbxo34 T C 14: 47,768,724 (GRCm39) Y746H probably damaging Het
Galr1 A T 18: 82,424,103 (GRCm39) L58Q probably damaging Het
Ghdc A G 11: 100,658,863 (GRCm39) V423A probably benign Het
Glt28d2 T C 3: 85,779,059 (GRCm39) D138G probably benign Het
Gm266 A T 12: 111,451,763 (GRCm39) C148S probably benign Het
Gnas C T 2: 174,141,132 (GRCm39) T493M unknown Het
Hivep2 T C 10: 14,015,203 (GRCm39) I1790T probably damaging Het
Impg1 A G 9: 80,287,276 (GRCm39) V390A probably benign Het
Isy1 A G 6: 87,796,574 (GRCm39) F239L possibly damaging Het
Itgb5 A G 16: 33,685,917 (GRCm39) T86A probably benign Het
Itpr1 T C 6: 108,382,481 (GRCm39) C1458R possibly damaging Het
Krt28 T C 11: 99,255,921 (GRCm39) E446G probably damaging Het
Lama1 A T 17: 68,129,404 (GRCm39) Q3071L Het
Lasp1 A G 11: 97,697,593 (GRCm39) probably benign Het
Lmf2 T C 15: 89,237,419 (GRCm39) K348E probably benign Het
Lrch3 G T 16: 32,796,108 (GRCm39) E331* probably null Het
Lzic T A 4: 149,573,141 (GRCm39) F98I probably damaging Het
Map7d1 C A 4: 126,127,440 (GRCm39) probably null Het
Marchf8 C T 6: 116,378,405 (GRCm39) T113I possibly damaging Het
Mgrn1 A T 16: 4,745,740 (GRCm39) K423* probably null Het
Muc20 G A 16: 32,615,266 (GRCm39) T37I possibly damaging Het
Myh15 A G 16: 48,959,044 (GRCm39) E972G probably damaging Het
Myocd T A 11: 65,087,167 (GRCm39) K253N probably damaging Het
Myod1 T G 7: 46,026,575 (GRCm39) L160R probably damaging Het
Nanog T C 6: 122,684,799 (GRCm39) S20P probably benign Het
Nat8f2 A T 6: 85,844,683 (GRCm39) Y226* probably null Het
Nsmf A G 2: 24,949,077 (GRCm39) K277R probably null Het
Nsrp1 C T 11: 76,967,503 (GRCm39) G30R probably damaging Het
Nsun6 C A 2: 15,003,009 (GRCm39) R389L probably benign Het
Obscn G A 11: 58,943,397 (GRCm39) R4251C probably benign Het
Or10g9 A T 9: 39,912,172 (GRCm39) M117K probably damaging Het
Or11h4 C T 14: 50,974,199 (GRCm39) C140Y probably benign Het
Or51h1 A G 7: 102,308,441 (GRCm39) T138A probably damaging Het
Or5w20 G A 2: 87,726,902 (GRCm39) D120N probably damaging Het
Pgm1 T C 4: 99,843,918 (GRCm39) L567P probably damaging Het
Polrmt G T 10: 79,576,535 (GRCm39) H474N probably benign Het
Ppfia2 A G 10: 106,664,885 (GRCm39) I374V probably benign Het
Pramel5 T A 4: 143,999,545 (GRCm39) I181F probably benign Het
Prpf4b T A 13: 35,083,870 (GRCm39) Y880N probably damaging Het
Ptpn3 G A 4: 57,249,957 (GRCm39) Q180* probably null Het
Ptprc T C 1: 138,008,627 (GRCm39) R687G probably damaging Het
Rnaseh2a T C 8: 85,684,638 (GRCm39) T241A probably damaging Het
Rnf148 T A 6: 23,654,802 (GRCm39) I65F possibly damaging Het
Rnf213 A G 11: 119,331,831 (GRCm39) I2348V Het
Rttn A G 18: 89,035,334 (GRCm39) N736S possibly damaging Het
Ryr3 A C 2: 112,633,534 (GRCm39) V2093G probably damaging Het
Selenof T A 3: 144,283,370 (GRCm39) F33L probably benign Het
Sh2d3c C T 2: 32,635,889 (GRCm39) R238* probably null Het
Slc23a4 T C 6: 34,923,235 (GRCm39) K543R probably benign Het
Smn1 A T 13: 100,272,210 (GRCm39) N278I possibly damaging Het
Sox7 G A 14: 64,185,509 (GRCm39) A182T probably benign Het
Spata31e5 T A 1: 28,817,120 (GRCm39) Y304F probably benign Het
Sptlc2 A T 12: 87,359,533 (GRCm39) I501N probably benign Het
Srf T C 17: 46,866,271 (GRCm39) T162A probably benign Het
Srm C T 4: 148,676,039 (GRCm39) probably benign Het
Stim1 CAGCGCCTGACGGAGC CAGC 7: 102,080,118 (GRCm39) probably benign Het
Taar8a T C 10: 23,952,714 (GRCm39) L106P probably damaging Het
Tcte1 A G 17: 45,850,798 (GRCm39) H358R possibly damaging Het
Tmem205 A G 9: 21,837,587 (GRCm39) S20P probably damaging Het
Trav16 T A 14: 53,980,910 (GRCm39) V33E possibly damaging Het
Trf T A 9: 103,103,217 (GRCm39) I149F probably damaging Het
Trmt2a C T 16: 18,070,041 (GRCm39) Q419* probably null Het
Ttc19 A G 11: 62,203,997 (GRCm39) I319M probably benign Het
Txndc16 T C 14: 45,400,467 (GRCm39) I345V probably benign Het
Ube3b T C 5: 114,553,370 (GRCm39) I914T probably benign Het
Ubr3 T C 2: 69,727,957 (GRCm39) F107L possibly damaging Het
Vmn1r73 T C 7: 11,490,407 (GRCm39) F75S possibly damaging Het
Vmn2r54 A T 7: 12,363,753 (GRCm39) M380K possibly damaging Het
Zcchc3 A G 2: 152,256,385 (GRCm39) S105P probably benign Het
Zfp735 T A 11: 73,601,806 (GRCm39) V250E 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
R6566:Wdr7 UTSW 18 63,888,126 (GRCm39) missense possibly damaging 0.72
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
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'- GGCAAAACTGTGTGGACAATTG -3'
(R):5'- CACAGGGGATAAAGTTACTTTTGC -3'

Sequencing Primer
(F):5'- CAAAACTGTGTGGACAATTGGTTTTC -3'
(R):5'- TGCTTAAAATTCACACTTCGCTG -3'
Posted On 2022-10-06