Incidental Mutation 'IGL01628:Wdr33'
ID 92844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr33
Ensembl Gene ENSMUSG00000024400
Gene Name WD repeat domain 33
Synonyms 8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL01628
Quality Score
Status
Chromosome 18
Chromosomal Location 31937143-32040450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32021363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 638 (G638C)
Ref Sequence ENSEMBL: ENSMUSP00000025264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264]
AlphaFold Q8K4P0
Predicted Effect unknown
Transcript: ENSMUST00000025264
AA Change: G638C
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: G638C

DomainStartEndE-ValueType
WD40 107 147 2.15e-1 SMART
WD40 150 189 5.77e-5 SMART
WD40 191 230 1.89e-9 SMART
WD40 233 274 2.59e-7 SMART
WD40 277 316 2.73e-6 SMART
WD40 320 360 1.71e-7 SMART
WD40 364 403 1.52e-4 SMART
low complexity region 481 499 N/A INTRINSIC
coiled coil region 531 559 N/A INTRINSIC
low complexity region 573 587 N/A INTRINSIC
low complexity region 608 624 N/A INTRINSIC
low complexity region 628 668 N/A INTRINSIC
low complexity region 679 722 N/A INTRINSIC
low complexity region 725 761 N/A INTRINSIC
internal_repeat_1 778 803 3.47e-9 PROSPERO
low complexity region 806 818 N/A INTRINSIC
internal_repeat_1 821 845 3.47e-9 PROSPERO
low complexity region 848 881 N/A INTRINSIC
low complexity region 920 935 N/A INTRINSIC
low complexity region 938 951 N/A INTRINSIC
low complexity region 1000 1018 N/A INTRINSIC
low complexity region 1041 1049 N/A INTRINSIC
low complexity region 1057 1100 N/A INTRINSIC
low complexity region 1137 1154 N/A INTRINSIC
low complexity region 1190 1207 N/A INTRINSIC
low complexity region 1251 1262 N/A INTRINSIC
low complexity region 1287 1330 N/A INTRINSIC
Coding Region Coverage
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), which 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. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik T C 4: 154,045,436 (GRCm39) V155A probably damaging Het
Agtpbp1 T A 13: 59,655,877 (GRCm39) probably benign Het
Bltp1 T G 3: 37,062,634 (GRCm39) V3382G probably damaging Het
Cd300ld A G 11: 114,876,999 (GRCm39) I144T probably benign Het
Cmc1 A T 9: 117,944,452 (GRCm39) I22K probably benign Het
Cyp3a59 A G 5: 146,036,629 (GRCm39) N277S possibly damaging Het
Edil3 G T 13: 89,467,945 (GRCm39) probably benign Het
Glipr2 C A 4: 43,977,565 (GRCm39) A136E probably damaging Het
Gm8297 G A 14: 16,164,995 (GRCm39) M1I probably null Het
Insrr C A 3: 87,708,099 (GRCm39) C180* probably null Het
Kat2b A G 17: 53,917,925 (GRCm39) N95D possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Or2h2 A T 17: 37,396,192 (GRCm39) Y288* probably null Het
Parp9 A G 16: 35,777,285 (GRCm39) T177A possibly damaging Het
Rmdn2 T A 17: 79,979,817 (GRCm39) Y361* probably null Het
Rusc2 A C 4: 43,425,729 (GRCm39) Q1278P probably damaging Het
Setbp1 A T 18: 78,899,992 (GRCm39) L1225Q probably damaging Het
Slc39a10 A T 1: 46,874,683 (GRCm39) H206Q probably benign Het
Slc4a10 A G 2: 62,099,010 (GRCm39) Y586C probably damaging Het
Sos1 C T 17: 80,730,106 (GRCm39) probably benign Het
Tnn A G 1: 159,975,172 (GRCm39) I85T possibly damaging Het
Ttn A G 2: 76,769,036 (GRCm39) probably null Het
Zfp976 T C 7: 42,261,935 (GRCm39) Y634C unknown Het
Other mutations in Wdr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr33 APN 18 32,011,169 (GRCm39) missense probably damaging 1.00
IGL01099:Wdr33 APN 18 32,039,842 (GRCm39) unclassified probably benign
IGL03296:Wdr33 APN 18 31,960,444 (GRCm39) missense probably benign 0.03
R0103:Wdr33 UTSW 18 31,966,388 (GRCm39) missense probably damaging 1.00
R0279:Wdr33 UTSW 18 32,021,377 (GRCm39) missense unknown
R0563:Wdr33 UTSW 18 32,019,792 (GRCm39) missense possibly damaging 0.94
R0730:Wdr33 UTSW 18 31,968,429 (GRCm39) splice site probably benign
R1077:Wdr33 UTSW 18 31,968,514 (GRCm39) missense probably benign 0.03
R1377:Wdr33 UTSW 18 32,021,694 (GRCm39) missense unknown
R1712:Wdr33 UTSW 18 32,029,684 (GRCm39) missense unknown
R1855:Wdr33 UTSW 18 32,039,909 (GRCm39) unclassified probably benign
R2013:Wdr33 UTSW 18 32,022,029 (GRCm39) missense unknown
R2014:Wdr33 UTSW 18 31,966,652 (GRCm39) missense probably damaging 1.00
R4497:Wdr33 UTSW 18 32,026,132 (GRCm39) missense unknown
R4727:Wdr33 UTSW 18 32,021,500 (GRCm39) missense unknown
R4739:Wdr33 UTSW 18 32,019,139 (GRCm39) missense probably benign 0.17
R4777:Wdr33 UTSW 18 32,014,301 (GRCm39) missense probably damaging 1.00
R4907:Wdr33 UTSW 18 32,040,046 (GRCm39) makesense probably null
R5811:Wdr33 UTSW 18 32,035,673 (GRCm39) missense unknown
R6053:Wdr33 UTSW 18 32,011,116 (GRCm39) missense possibly damaging 0.93
R6454:Wdr33 UTSW 18 31,963,028 (GRCm39) missense possibly damaging 0.47
R7112:Wdr33 UTSW 18 32,026,056 (GRCm39) missense unknown
R7369:Wdr33 UTSW 18 32,019,719 (GRCm39) missense probably benign 0.00
R7519:Wdr33 UTSW 18 32,029,823 (GRCm39) missense unknown
R8278:Wdr33 UTSW 18 31,960,405 (GRCm39) missense possibly damaging 0.59
R8558:Wdr33 UTSW 18 31,962,947 (GRCm39) missense probably benign 0.10
R8952:Wdr33 UTSW 18 31,960,393 (GRCm39) missense possibly damaging 0.61
R8994:Wdr33 UTSW 18 31,960,459 (GRCm39) missense probably benign 0.02
R9586:Wdr33 UTSW 18 31,966,669 (GRCm39) missense probably damaging 1.00
R9775:Wdr33 UTSW 18 32,037,406 (GRCm39) missense unknown
RF014:Wdr33 UTSW 18 32,014,326 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09