Incidental Mutation 'R7376:Wdr7'
ID 572417
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 045459-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R7376 (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 A at 63910691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 694 (D694E)
Ref Sequence ENSEMBL: ENSMUSP00000072509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072726]
AlphaFold Q920I9
Predicted Effect probably damaging
Transcript: ENSMUST00000072726
AA Change: D694E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: D694E

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 0.4539 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (60/61)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,118 (GRCm39) I994V probably benign Het
Acan T G 7: 78,738,055 (GRCm39) probably null Het
Adamts12 G A 15: 11,277,425 (GRCm39) V680I possibly damaging Het
Adgrg7 T C 16: 56,545,342 (GRCm39) I712V probably damaging Het
Adgrl3 A G 5: 81,942,597 (GRCm39) H1477R probably damaging Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Alms1 T C 6: 85,599,088 (GRCm39) S1305P probably benign Het
Banp T A 8: 122,701,236 (GRCm39) M39K probably damaging Het
Bbs10 A G 10: 111,135,111 (GRCm39) T75A probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Bltp3b G A 10: 89,645,518 (GRCm39) G1197D probably damaging Het
Brinp2 C T 1: 158,078,938 (GRCm39) C295Y probably damaging Het
Card11 C T 5: 140,883,993 (GRCm39) V429I probably benign Het
Cdca3 G A 6: 124,809,538 (GRCm39) R184H probably benign Het
Cep104 A G 4: 154,067,509 (GRCm39) probably null Het
Clspn A G 4: 126,484,430 (GRCm39) K1196R possibly damaging Het
Cntnap5b A G 1: 99,894,994 (GRCm39) T89A possibly damaging Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crat T A 2: 30,296,477 (GRCm39) I330F probably damaging Het
Ctbp2 G T 7: 132,615,697 (GRCm39) Q413K possibly damaging Het
D630045J12Rik T C 6: 38,151,238 (GRCm39) E1220G probably damaging Het
Dap A G 15: 31,235,985 (GRCm39) D41G probably damaging Het
Dnah14 A G 1: 181,590,967 (GRCm39) I3287V probably benign Het
Dsp A G 13: 38,356,819 (GRCm39) H233R probably damaging Het
Dst T C 1: 34,231,770 (GRCm39) I3121T probably benign Het
Espnl T G 1: 91,250,036 (GRCm39) L61R probably damaging Het
Evc2 T C 5: 37,527,983 (GRCm39) S331P possibly damaging Het
Gars1 A G 6: 55,050,344 (GRCm39) E535G probably benign Het
Hfm1 A G 5: 107,043,084 (GRCm39) I650T possibly damaging Het
Iyd T A 10: 3,495,690 (GRCm39) I116N probably damaging Het
Kif16b A G 2: 142,553,792 (GRCm39) L1002S probably damaging Het
Kifbp C T 10: 62,394,843 (GRCm39) V600I possibly damaging Het
Lgi1 G A 19: 38,272,468 (GRCm39) G113D probably damaging Het
Lgi2 G A 5: 52,695,604 (GRCm39) R452C probably damaging Het
Man2b2 T G 5: 36,970,722 (GRCm39) N764T probably damaging Het
Mrps18b A G 17: 36,221,587 (GRCm39) I246T probably benign Het
Muc5b A G 7: 141,426,287 (GRCm39) T4795A possibly damaging Het
Mybl2 G A 2: 162,924,513 (GRCm39) G627D possibly damaging Het
Ndufb8 C T 19: 44,543,794 (GRCm39) R16K probably benign Het
Or5k17 A T 16: 58,746,121 (GRCm39) V271E possibly damaging Het
P4htm C T 9: 108,457,991 (GRCm39) V335M probably damaging Het
Pbx3 A G 2: 34,094,889 (GRCm39) I249T probably damaging Het
Plod3 G T 5: 137,019,335 (GRCm39) V360L probably benign Het
Podxl2 C T 6: 88,826,632 (GRCm39) D161N probably benign Het
Polr1b G T 2: 128,960,993 (GRCm39) V651L probably benign Het
Prr14 T C 7: 127,075,749 (GRCm39) S586P probably benign Het
Pum3 C T 19: 27,371,728 (GRCm39) G575D probably benign Het
Rnf157 C A 11: 116,251,192 (GRCm39) A111S probably benign Het
Robo3 A G 9: 37,344,212 (GRCm39) L29P probably damaging Het
Smarca5 T C 8: 81,452,680 (GRCm39) N342S probably damaging Het
Specc1 T A 11: 62,009,078 (GRCm39) I198K probably benign Het
Tmem177 A T 1: 119,837,744 (GRCm39) *312R probably null Het
Tom1l2 A T 11: 60,152,026 (GRCm39) M172K probably benign Het
Tsc22d4 T C 5: 137,756,414 (GRCm39) V3A unknown Het
Vmn1r128 G T 7: 21,083,668 (GRCm39) G124V probably damaging Het
Vmn1r15 T C 6: 57,235,342 (GRCm39) I70T probably benign Het
Vmn2r60 A G 7: 41,844,631 (GRCm39) T665A probably damaging Het
Vmn2r83 T C 10: 79,314,790 (GRCm39) F346S probably benign 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
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'- TGTTAATGACCCAGAAGCCC -3'
(R):5'- TGCGGTATCCATAGTAAGGTTG -3'

Sequencing Primer
(F):5'- GTTAATGACCCAGAAGCCCTAAAAAG -3'
(R):5'- CCGGTACTCAGGGTCACTATC -3'
Posted On 2019-09-13