Incidental Mutation 'R6962:Wdr7'
ID 541854
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 045072-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6962 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 63841756-64122847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63998359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1102 (C1102Y)
Ref Sequence ENSEMBL: ENSMUSP00000072509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072726]
AlphaFold Q920I9
Predicted Effect possibly damaging
Transcript: ENSMUST00000072726
AA Change: C1102Y

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: C1102Y

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: 99.2%
  • 20x: 97.2%
Validation Efficiency 96% (74/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,150 (GRCm39) K1016E probably benign Het
Abca3 T C 17: 24,583,700 (GRCm39) F30L probably benign Het
Arhgap17 C T 7: 122,895,655 (GRCm39) G490R probably damaging Het
Arsg T A 11: 109,412,495 (GRCm39) L140H probably damaging Het
Bmp2k T A 5: 97,179,097 (GRCm39) C130* probably null Het
C4b T C 17: 34,951,140 (GRCm39) probably null Het
Cdk5r2 A G 1: 74,894,975 (GRCm39) Y240C probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Col27a1 A G 4: 63,237,738 (GRCm39) probably benign Het
Cubn G A 2: 13,352,840 (GRCm39) S1966F probably benign Het
Dnajc13 T C 9: 104,058,208 (GRCm39) Y1509C probably benign Het
Dpp4 A G 2: 62,203,174 (GRCm39) V265A probably benign Het
Dync2i1 A T 12: 116,175,398 (GRCm39) D926E probably damaging Het
Fbxl8 C A 8: 105,995,338 (GRCm39) N283K possibly damaging Het
Fev T A 1: 74,921,299 (GRCm39) Q122L probably benign Het
Fgd4 T A 16: 16,301,951 (GRCm39) probably null Het
Fnip2 A C 3: 79,396,610 (GRCm39) L439R probably damaging Het
Git1 C A 11: 77,395,469 (GRCm39) Q389K probably benign Het
Gm10509 C G 17: 21,909,833 (GRCm39) I53M possibly damaging Het
Gm5773 A T 3: 93,681,234 (GRCm39) H302L possibly damaging Het
Greb1l G T 18: 10,547,327 (GRCm39) R1515L probably damaging Het
Gsc2 T C 16: 17,732,902 (GRCm39) Y2C possibly damaging Het
H60b A G 10: 22,162,053 (GRCm39) N93D probably benign Het
Hgf G A 5: 16,820,752 (GRCm39) R633Q probably benign Het
Hmgb1 C T 5: 148,985,633 (GRCm39) probably benign Het
Hmmr T C 11: 40,598,242 (GRCm39) T657A probably damaging Het
Htt G T 5: 35,057,115 (GRCm39) probably null Het
Ift80 G A 3: 68,901,878 (GRCm39) probably benign Het
Kcnq5 G T 1: 21,576,017 (GRCm39) T229K probably damaging Het
Kcp C T 6: 29,482,839 (GRCm39) R1410Q probably benign Het
Klhl30 T G 1: 91,285,137 (GRCm39) V331G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc37 G A 11: 103,505,126 (GRCm39) P105S possibly damaging Het
Macf1 C T 4: 123,334,515 (GRCm39) R2849Q probably benign Het
Mex3b T G 7: 82,518,473 (GRCm39) S263A probably benign Het
Mrgpre A G 7: 143,334,799 (GRCm39) S235P probably damaging Het
Myh14 A T 7: 44,307,363 (GRCm39) V226D probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nudt8 G T 19: 4,051,831 (GRCm39) L147F probably damaging Het
Or2aj5 T A 16: 19,424,672 (GRCm39) I249L probably benign Het
Or52e8 T A 7: 104,624,580 (GRCm39) N208I probably benign Het
Or5w17 A G 2: 87,584,071 (GRCm39) Y89H probably benign Het
Or6z7 A T 7: 6,484,008 (GRCm39) I49N probably benign Het
P4htm C A 9: 108,456,394 (GRCm39) A469S possibly damaging Het
Pld4 A T 12: 112,733,288 (GRCm39) H288L probably benign Het
Pnpla1 T A 17: 29,097,455 (GRCm39) I207N probably damaging Het
Ppcs T G 4: 119,279,375 (GRCm39) N59T probably damaging Het
Ppm1k A T 6: 57,492,645 (GRCm39) C214S probably damaging Het
Psg25 C T 7: 18,263,679 (GRCm39) G48E probably damaging Het
Rassf7 A G 7: 140,797,503 (GRCm39) T239A possibly damaging Het
Rgs3 G T 4: 62,618,952 (GRCm39) probably benign Het
Scaper T C 9: 55,767,055 (GRCm39) T465A probably benign Het
Slc4a7 G T 14: 14,746,021 (GRCm38) G405C probably damaging Het
Smpd3 T C 8: 106,991,851 (GRCm39) D234G probably benign Het
Spata31f1e T C 4: 42,793,323 (GRCm39) T270A probably damaging Het
Ssc4d A G 5: 135,991,775 (GRCm39) probably null Het
Sugct G T 13: 17,032,606 (GRCm39) probably null Het
Taok2 C A 7: 126,466,088 (GRCm39) probably null Het
Tbx20 A G 9: 24,681,036 (GRCm39) V152A probably damaging Het
Tbx4 A G 11: 85,781,085 (GRCm39) E66G probably benign Het
Thbs2 T C 17: 14,902,082 (GRCm39) E382G probably benign Het
Ticrr T G 7: 79,315,645 (GRCm39) S300A possibly damaging Het
Trim46 A G 3: 89,146,303 (GRCm39) L396P probably damaging Het
Trim56 A G 5: 137,141,501 (GRCm39) F672L probably damaging Het
Ttf2 A G 3: 100,858,453 (GRCm39) L712S probably damaging Het
Unc93b1 T G 19: 3,986,303 (GRCm39) D112E possibly damaging Het
Usp17lc T C 7: 103,068,118 (GRCm39) L471P probably benign Het
Vmn2r85 A G 10: 130,261,452 (GRCm39) I295T probably damaging Het
Vmn2r96 T G 17: 18,818,283 (GRCm39) I812S probably damaging Het
Wnt9b G T 11: 103,624,515 (GRCm39) Q92K probably null Het
Zbtb26 A T 2: 37,326,106 (GRCm39) M310K possibly damaging Het
Zdhhc1 T C 8: 106,210,279 (GRCm39) H46R probably damaging Het
Zfp628 G T 7: 4,922,549 (GRCm39) R257L probably benign Het
Zfp747l1 A T 7: 126,983,487 (GRCm39) D538E possibly damaging Het
Zmat4 A G 8: 24,392,181 (GRCm39) T46A probably benign Het
Zmiz2 T A 11: 6,352,455 (GRCm39) W637R probably 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
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'- AGGTGTTCCATCTGTGTGAATC -3'
(R):5'- ACTTACACGTGTGTCTGGC -3'

Sequencing Primer
(F):5'- TCCATCTGTGTGAATCAGTGAC -3'
(R):5'- TGGTCAAGCCAAAGCCTTCAG -3'
Posted On 2018-11-28