Incidental Mutation 'IGL01981:Wdhd1'
ID 183497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdhd1
Ensembl Gene ENSMUSG00000037572
Gene Name WD repeat and HMG-box DNA binding protein 1
Synonyms AND-1, D630024B06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 14
Chromosomal Location 47478401-47514314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47498907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 509 (L509P)
Ref Sequence ENSEMBL: ENSMUSP00000107422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111790] [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000111790
AA Change: L546P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: L546P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:DUF3639 525 551 2.4e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111791
AA Change: L546P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: L546P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:Mcl1_mid 424 708 1.6e-103 PFAM
coiled coil region 802 834 N/A INTRINSIC
HMG 1003 1073 2.64e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111792
AA Change: L509P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: L509P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 316 326 N/A INTRINSIC
Pfam:DUF3639 488 514 7.1e-13 PFAM
coiled coil region 765 797 N/A INTRINSIC
HMG 966 1036 2.64e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187531
AA Change: L546P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: L546P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:DUF3639 525 551 3e-13 PFAM
coiled coil region 802 834 N/A INTRINSIC
HMG 1003 1073 2.64e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228742
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 contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Wdhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Wdhd1 APN 14 47,488,239 (GRCm39) missense possibly damaging 0.87
IGL01789:Wdhd1 APN 14 47,512,274 (GRCm39) missense probably benign 0.10
IGL02034:Wdhd1 APN 14 47,498,808 (GRCm39) missense probably benign 0.02
IGL02932:Wdhd1 APN 14 47,509,591 (GRCm39) critical splice donor site probably null
IGL02966:Wdhd1 APN 14 47,479,101 (GRCm39) missense possibly damaging 0.93
IGL03355:Wdhd1 APN 14 47,481,346 (GRCm39) missense possibly damaging 0.78
R0165:Wdhd1 UTSW 14 47,504,525 (GRCm39) missense probably benign 0.00
R0414:Wdhd1 UTSW 14 47,514,045 (GRCm39) missense probably benign
R0603:Wdhd1 UTSW 14 47,501,043 (GRCm39) missense probably damaging 1.00
R1503:Wdhd1 UTSW 14 47,484,857 (GRCm39) missense probably benign 0.00
R1539:Wdhd1 UTSW 14 47,482,507 (GRCm39) missense possibly damaging 0.63
R1541:Wdhd1 UTSW 14 47,505,649 (GRCm39) nonsense probably null
R1588:Wdhd1 UTSW 14 47,493,693 (GRCm39) missense probably damaging 1.00
R1686:Wdhd1 UTSW 14 47,493,672 (GRCm39) missense probably damaging 1.00
R1916:Wdhd1 UTSW 14 47,496,034 (GRCm39) missense possibly damaging 0.89
R1952:Wdhd1 UTSW 14 47,507,647 (GRCm39) missense probably damaging 1.00
R2320:Wdhd1 UTSW 14 47,511,485 (GRCm39) missense probably benign 0.06
R2421:Wdhd1 UTSW 14 47,496,041 (GRCm39) missense probably benign 0.00
R3731:Wdhd1 UTSW 14 47,485,349 (GRCm39) missense possibly damaging 0.89
R3818:Wdhd1 UTSW 14 47,481,258 (GRCm39) critical splice donor site probably null
R3836:Wdhd1 UTSW 14 47,482,511 (GRCm39) missense probably benign 0.01
R4789:Wdhd1 UTSW 14 47,506,149 (GRCm39) missense probably benign 0.01
R4963:Wdhd1 UTSW 14 47,506,146 (GRCm39) missense possibly damaging 0.66
R4994:Wdhd1 UTSW 14 47,506,111 (GRCm39) critical splice donor site probably null
R5225:Wdhd1 UTSW 14 47,488,273 (GRCm39) missense probably benign 0.01
R5347:Wdhd1 UTSW 14 47,506,181 (GRCm39) nonsense probably null
R5377:Wdhd1 UTSW 14 47,509,678 (GRCm39) missense probably benign 0.15
R6038:Wdhd1 UTSW 14 47,501,037 (GRCm39) missense possibly damaging 0.89
R6038:Wdhd1 UTSW 14 47,501,037 (GRCm39) missense possibly damaging 0.89
R6046:Wdhd1 UTSW 14 47,510,667 (GRCm39) nonsense probably null
R6156:Wdhd1 UTSW 14 47,505,653 (GRCm39) missense probably damaging 0.99
R6289:Wdhd1 UTSW 14 47,495,953 (GRCm39) missense possibly damaging 0.95
R6298:Wdhd1 UTSW 14 47,510,579 (GRCm39) missense possibly damaging 0.67
R6345:Wdhd1 UTSW 14 47,489,379 (GRCm39) missense probably damaging 0.99
R6405:Wdhd1 UTSW 14 47,481,324 (GRCm39) missense possibly damaging 0.91
R6500:Wdhd1 UTSW 14 47,488,217 (GRCm39) splice site probably null
R6564:Wdhd1 UTSW 14 47,485,499 (GRCm39) missense probably benign
R6897:Wdhd1 UTSW 14 47,485,587 (GRCm39) missense probably damaging 1.00
R7262:Wdhd1 UTSW 14 47,489,430 (GRCm39) missense probably benign 0.08
R7444:Wdhd1 UTSW 14 47,489,405 (GRCm39) nonsense probably null
R7496:Wdhd1 UTSW 14 47,511,481 (GRCm39) missense probably benign 0.39
R7503:Wdhd1 UTSW 14 47,488,248 (GRCm39) missense probably benign 0.25
R8317:Wdhd1 UTSW 14 47,500,994 (GRCm39) missense probably damaging 1.00
R8323:Wdhd1 UTSW 14 47,512,252 (GRCm39) missense possibly damaging 0.85
R8331:Wdhd1 UTSW 14 47,509,702 (GRCm39) splice site probably null
R8338:Wdhd1 UTSW 14 47,506,120 (GRCm39) missense probably benign
R8363:Wdhd1 UTSW 14 47,513,989 (GRCm39) missense probably damaging 1.00
R8944:Wdhd1 UTSW 14 47,504,470 (GRCm39) missense probably benign
R8946:Wdhd1 UTSW 14 47,482,752 (GRCm39) missense probably benign 0.01
R9045:Wdhd1 UTSW 14 47,511,409 (GRCm39) missense probably benign 0.01
R9428:Wdhd1 UTSW 14 47,489,427 (GRCm39) nonsense probably null
R9444:Wdhd1 UTSW 14 47,488,324 (GRCm39) missense possibly damaging 0.85
R9491:Wdhd1 UTSW 14 47,505,616 (GRCm39) nonsense probably null
Posted On 2014-05-07