Incidental Mutation 'IGL02479:Wdr37'
ID295098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr37
Ensembl Gene ENSMUSG00000021147
Gene NameWD repeat domain 37
Synonyms3110035P10Rik, 4933417A01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02479
Quality Score
Status
Chromosome13
Chromosomal Location8802968-8871909 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8842784 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 224 (H224Q)
Ref Sequence ENSEMBL: ENSMUSP00000062174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021572] [ENSMUST00000054251] [ENSMUST00000176098] [ENSMUST00000176329] [ENSMUST00000176813]
Predicted Effect probably damaging
Transcript: ENSMUST00000021572
AA Change: H224Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: H224Q

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
WD40 145 185 9.75e-3 SMART
WD40 188 227 4.27e-8 SMART
WD40 272 311 1.06e-3 SMART
WD40 314 353 4.91e-8 SMART
WD40 358 396 2.38e-6 SMART
Blast:WD40 400 438 8e-17 BLAST
WD40 445 486 6.19e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000054251
AA Change: H224Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: H224Q

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
WD40 145 185 9.75e-3 SMART
WD40 188 227 4.27e-8 SMART
WD40 272 311 1.06e-3 SMART
WD40 314 353 4.91e-8 SMART
WD40 358 396 2.38e-6 SMART
Blast:WD40 400 438 8e-17 BLAST
WD40 445 486 6.19e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176098
AA Change: H55Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147
AA Change: H55Q

DomainStartEndE-ValueType
WD40 19 58 4.27e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176329
AA Change: H179Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
AA Change: H179Q

DomainStartEndE-ValueType
WD40 100 140 9.75e-3 SMART
WD40 143 182 4.27e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176429
SMART Domains Protein: ENSMUSP00000134916
Gene: ENSMUSG00000021147

DomainStartEndE-ValueType
WD40 26 66 9.75e-3 SMART
WD40 69 113 3.81e-5 SMART
WD40 118 156 2.38e-6 SMART
Blast:WD40 160 193 2e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176813
SMART Domains Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
SCOP:d1ijqa1 128 180 3e-4 SMART
Blast:WD40 145 180 5e-19 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000177537
AA Change: H30Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221401
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Wdr37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Wdr37 APN 13 8820505 missense probably damaging 1.00
IGL00753:Wdr37 APN 13 8861174 missense probably damaging 1.00
profound UTSW 13 8842728 critical splice donor site probably null
radical UTSW 13 8847674 unclassified probably null
R0885:Wdr37 UTSW 13 8835252 intron probably null
R1073:Wdr37 UTSW 13 8805840 missense probably damaging 0.99
R1085:Wdr37 UTSW 13 8805928 missense probably damaging 1.00
R1537:Wdr37 UTSW 13 8837003 missense probably benign 0.01
R1538:Wdr37 UTSW 13 8836792 missense probably benign
R1541:Wdr37 UTSW 13 8820538 missense probably benign 0.26
R1868:Wdr37 UTSW 13 8836851 missense probably damaging 1.00
R2240:Wdr37 UTSW 13 8861232 start gained probably benign
R3815:Wdr37 UTSW 13 8853596 intron probably benign
R3817:Wdr37 UTSW 13 8853596 intron probably benign
R3818:Wdr37 UTSW 13 8853596 intron probably benign
R3819:Wdr37 UTSW 13 8853596 intron probably benign
R4721:Wdr37 UTSW 13 8854029 missense possibly damaging 0.89
R5080:Wdr37 UTSW 13 8847674 unclassified probably null
R6297:Wdr37 UTSW 13 8842728 critical splice donor site probably null
R6761:Wdr37 UTSW 13 8849648 missense probably benign 0.07
Posted On2015-04-16