Incidental Mutation 'R6168:Wdr7'
ID 490277
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 044430-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6168 (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 63911048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 813 (N813K)
Ref Sequence ENSEMBL: ENSMUSP00000072509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072726]
AlphaFold Q920I9
Predicted Effect probably damaging
Transcript: ENSMUST00000072726
AA Change: N813K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: N813K

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,571,827 (GRCm39) L568F possibly damaging Het
Adam3 A T 8: 25,171,630 (GRCm39) probably null Het
Adamts13 G T 2: 26,894,898 (GRCm39) A1069S probably benign Het
Adarb1 A G 10: 77,158,153 (GRCm39) L98P probably damaging Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Alox12b T A 11: 69,060,460 (GRCm39) I672N probably damaging Het
Ark2n A G 18: 77,761,653 (GRCm39) S220P probably damaging Het
Ash1l C T 3: 88,960,080 (GRCm39) R2271* probably null Het
Atf7ip A G 6: 136,536,817 (GRCm39) T17A probably damaging Het
Col6a5 A G 9: 105,752,986 (GRCm39) probably null Het
Crcp A G 5: 130,066,737 (GRCm39) N41S probably damaging Het
Defb15 A C 8: 22,420,069 (GRCm39) N19K possibly damaging Het
Dnah7a T A 1: 53,450,727 (GRCm39) D3901V probably damaging Het
Dnah7b A C 1: 46,329,863 (GRCm39) T3236P probably damaging Het
Dnmbp A G 19: 43,838,679 (GRCm39) S608P probably damaging Het
Efcab12 T C 6: 115,791,577 (GRCm39) K532E probably damaging Het
Fbrsl1 C T 5: 110,543,922 (GRCm39) V54M probably damaging Het
Gm14496 T A 2: 181,642,750 (GRCm39) V807E probably damaging Het
Hoxa2 A G 6: 52,140,461 (GRCm39) L175P probably damaging Het
Igkv4-58 A C 6: 69,477,281 (GRCm39) D105E probably damaging Het
Igkv8-27 A T 6: 70,148,880 (GRCm39) S91R probably benign Het
Itgax T C 7: 127,732,269 (GRCm39) V175A probably damaging Het
Kcnc2 A G 10: 112,291,661 (GRCm39) D283G probably benign Het
Lepr G A 4: 101,592,789 (GRCm39) G135R probably damaging Het
Mcf2l A G 8: 13,051,823 (GRCm39) S378G probably benign Het
Mta1 T A 12: 113,086,739 (GRCm39) D145E probably damaging Het
Nkd1 T A 8: 89,311,859 (GRCm39) N44K probably damaging Het
Notch2 A G 3: 98,052,533 (GRCm39) K2010E probably damaging Het
Nsd3 G A 8: 26,181,188 (GRCm39) G930S probably null Het
Or2w1 T G 13: 21,317,399 (GRCm39) I151M possibly damaging Het
Or6c203 A G 10: 129,010,035 (GRCm39) F285S probably damaging Het
Or8g35 A G 9: 39,381,953 (GRCm39) L23P probably damaging Het
Or8k3 T G 2: 86,058,938 (GRCm39) I126L probably damaging Het
Or8u8 T C 2: 86,012,309 (GRCm39) I49V probably damaging Het
Pde4c G A 8: 71,202,688 (GRCm39) E625K probably benign Het
Pdgfb T C 15: 79,884,587 (GRCm39) T151A probably benign Het
Pik3r5 T C 11: 68,383,501 (GRCm39) V440A probably benign Het
Piwil2 T C 14: 70,632,800 (GRCm39) T591A probably benign Het
Ppm1l A G 3: 69,456,740 (GRCm39) D219G probably damaging Het
Psmc6 T C 14: 45,581,140 (GRCm39) I312T probably damaging Het
Rasl10a T C 11: 5,008,442 (GRCm39) V46A possibly damaging Het
Rhov T C 2: 119,101,453 (GRCm39) Y51C probably damaging Het
S100a16 C T 3: 90,449,879 (GRCm39) Q121* probably null Het
Slc5a12 T C 2: 110,447,089 (GRCm39) V199A probably damaging Het
Slc6a7 A T 18: 61,134,734 (GRCm39) M447K probably benign Het
Tarbp1 A G 8: 127,175,144 (GRCm39) V764A possibly damaging Het
Vmn1r197 T C 13: 22,512,678 (GRCm39) Y200H possibly damaging Het
Vmn2r102 G A 17: 19,914,402 (GRCm39) A656T possibly damaging Het
Vmn2r49 G T 7: 9,718,713 (GRCm39) D450E probably benign Het
Yeats2 T C 16: 19,998,308 (GRCm39) S288P probably benign Het
Zfta T C 19: 7,400,305 (GRCm39) V257A probably benign Het
Zswim6 G A 13: 107,924,299 (GRCm39) noncoding transcript 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
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
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'- GCGGTTCTTTTCCAGCAAGTG -3'
(R):5'- ACACTGTGTAGGTTCCCTTGC -3'

Sequencing Primer
(F):5'- ACATAAAGGAACACCTTCTGGATG -3'
(R):5'- GTAGGTTCCCTTGCCTACG -3'
Posted On 2017-10-10