Incidental Mutation 'IGL03253:Wdr73'
ID 414578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr73
Ensembl Gene ENSMUSG00000025722
Gene Name WD repeat domain 73
Synonyms 2410008B13Rik, 1200011I23Rik
Accession Numbers

Genbank: NM_028026; MGI: 1919218

Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL03253
Quality Score
Status
Chromosome 7
Chromosomal Location 80890723-80901269 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80897946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 110 (M110T)
Ref Sequence ENSEMBL: ENSMUSP00000026816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026816] [ENSMUST00000026817] [ENSMUST00000119428]
AlphaFold Q9CWR1
Predicted Effect probably benign
Transcript: ENSMUST00000026816
AA Change: M110T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: M110T

DomainStartEndE-ValueType
WD40 67 112 8.52e1 SMART
Blast:WD40 162 204 3e-6 BLAST
Blast:WD40 208 254 3e-17 BLAST
WD40 263 304 2.57e0 SMART
WD40 314 364 8.91e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026817
SMART Domains Protein: ENSMUSP00000026817
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119428
SMART Domains Protein: ENSMUSP00000113407
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145923
Predicted Effect unknown
Transcript: ENSMUST00000146402
AA Change: M108T
SMART Domains Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: M108T

DomainStartEndE-ValueType
Blast:WD40 66 111 3e-26 BLAST
Blast:WD40 182 228 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152518
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,140,883 V98I probably benign Het
Aadacl4 G T 4: 144,623,288 V372L probably benign Het
Acp5 A T 9: 22,127,787 I210N probably damaging Het
Ash1l G A 3: 88,984,674 A1287T probably damaging Het
AU018091 A T 7: 3,164,172 C72S probably damaging Het
Ccdc178 G A 18: 21,845,011 Q800* probably null Het
Cd47 A T 16: 49,894,198 H190L probably benign Het
Clca2 T A 3: 145,071,563 H849L probably benign Het
Cmya5 G A 13: 93,091,270 Q2437* probably null Het
Depdc5 T C 5: 32,868,813 probably benign Het
Erp44 T A 4: 48,208,750 I237F probably benign Het
Gm8394 A G 10: 85,313,692 noncoding transcript Het
Gramd1a C T 7: 31,139,846 W8* probably null Het
Gucy2d C T 7: 98,451,664 A398V probably benign Het
Hecw2 T C 1: 53,832,716 E1357G possibly damaging Het
Ighv1-11 T C 12: 114,615,848 probably benign Het
Itih3 A C 14: 30,911,923 probably null Het
Kcnk5 A G 14: 20,142,337 V252A probably benign Het
Kif14 A G 1: 136,487,460 E771G probably damaging Het
Klc1 T C 12: 111,781,644 probably benign Het
Myom3 A G 4: 135,783,097 E567G possibly damaging Het
Olfr1242 A G 2: 89,493,799 V171A possibly damaging Het
Pfpl A G 19: 12,430,029 D548G probably damaging Het
Rad54l2 A G 9: 106,704,223 V833A probably damaging Het
Scnn1g A T 7: 121,737,933 K6* probably null Het
Sun1 T C 5: 139,223,586 probably benign Het
Synj2 A G 17: 6,003,159 probably null Het
Ttc1 T A 11: 43,738,823 E172V probably benign Het
Ttn A G 2: 76,769,020 V19215A probably damaging Het
Vwa3a A G 7: 120,778,869 I461V probably benign Het
Zfand4 A T 6: 116,284,809 D111V probably damaging Het
Zscan4f T A 7: 11,401,343 N225K probably benign Het
Other mutations in Wdr73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Wdr73 APN 7 80893663 missense probably benign 0.01
IGL02183:Wdr73 APN 7 80893760 missense probably damaging 1.00
3-1:Wdr73 UTSW 7 80897959 missense possibly damaging 0.91
R0469:Wdr73 UTSW 7 80897950 nonsense probably null
R0507:Wdr73 UTSW 7 80891846 missense possibly damaging 0.88
R0510:Wdr73 UTSW 7 80897950 nonsense probably null
R1349:Wdr73 UTSW 7 80893252 missense probably damaging 1.00
R1782:Wdr73 UTSW 7 80891778 missense probably damaging 1.00
R1917:Wdr73 UTSW 7 80893333 missense probably benign 0.17
R3085:Wdr73 UTSW 7 80901242 unclassified probably benign
R4478:Wdr73 UTSW 7 80893221 missense probably benign 0.06
R4479:Wdr73 UTSW 7 80893221 missense probably benign 0.06
R4480:Wdr73 UTSW 7 80893221 missense probably benign 0.06
R4910:Wdr73 UTSW 7 80891708 missense probably damaging 0.97
R4925:Wdr73 UTSW 7 80893195 missense probably benign 0.00
R5046:Wdr73 UTSW 7 80892425 unclassified probably benign
R5286:Wdr73 UTSW 7 80891809 missense probably benign 0.04
R5842:Wdr73 UTSW 7 80891710 missense probably damaging 1.00
R6991:Wdr73 UTSW 7 80891856 missense probably benign 0.17
R7182:Wdr73 UTSW 7 80893678 missense possibly damaging 0.45
R7197:Wdr73 UTSW 7 80893198 missense probably benign 0.02
R7362:Wdr73 UTSW 7 80900703 missense probably damaging 1.00
R7771:Wdr73 UTSW 7 80893227 missense probably benign 0.13
R8558:Wdr73 UTSW 7 80898506 missense probably damaging 1.00
R8950:Wdr73 UTSW 7 80900383 missense probably benign 0.00
X0022:Wdr73 UTSW 7 80897951 missense possibly damaging 0.47
Posted On 2016-08-02