Incidental Mutation 'R5347:Wdhd1'
ID 422698
Institutional Source Beutler Lab
Gene Symbol Wdhd1
Ensembl Gene ENSMUSG00000037572
Gene Name WD repeat and HMG-box DNA binding protein 1
Synonyms AND-1, D630024B06Rik
MMRRC Submission 042926-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5347 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 47478401-47514314 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 47506181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 244 (Y244*)
Ref Sequence ENSEMBL: ENSMUSP00000141182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111790] [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000111790
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: Y244*

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 null
Transcript: ENSMUST00000111791
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: Y244*

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 null
Transcript: ENSMUST00000111792
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: Y244*

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 noncoding transcript
Transcript: ENSMUST00000122699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139124
Predicted Effect probably null
Transcript: ENSMUST00000187531
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: Y244*

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,782,166 (GRCm39) Y233C probably damaging Het
Agl A G 3: 116,584,814 (GRCm39) S169P probably damaging Het
Arid1b C T 17: 5,341,332 (GRCm39) Q879* probably null Het
Bbs2 A G 8: 94,819,178 (GRCm39) S64P probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Cacna2d2 A G 9: 107,391,313 (GRCm39) T447A probably benign Het
Ccdc168 T A 1: 44,096,955 (GRCm39) Y1381F probably benign Het
Ccdc169 A T 3: 55,049,740 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,546 (GRCm39) S275P possibly damaging Het
Cdh15 A G 8: 123,588,802 (GRCm39) N292S probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnnm1 A G 19: 43,430,301 (GRCm39) H473R probably benign Het
Cplx4 G A 18: 66,103,157 (GRCm39) probably benign Het
Crb1 C T 1: 139,265,109 (GRCm39) G103E probably damaging Het
Dnaja3 T A 16: 4,512,346 (GRCm39) V250E possibly damaging Het
Dync2h1 T G 9: 7,129,727 (GRCm39) Q1757P probably damaging Het
Edem3 A G 1: 151,683,202 (GRCm39) Q626R probably damaging Het
Eif2b1 T C 5: 124,716,862 (GRCm39) probably benign Het
Esf1 T A 2: 139,996,801 (GRCm39) K521* probably null Het
Fbxl3 A C 14: 103,320,730 (GRCm39) V239G probably damaging Het
Fhip2a A G 19: 57,367,051 (GRCm39) D198G probably benign Het
Fto A G 8: 92,118,107 (GRCm39) probably benign Het
Gm5773 T C 3: 93,681,090 (GRCm39) L254P probably damaging Het
Gm5916 A T 9: 36,032,012 (GRCm39) W91R probably benign Het
Gpam A T 19: 55,077,269 (GRCm39) L174H probably damaging Het
Grk1 G A 8: 13,464,478 (GRCm39) R450Q probably damaging Het
Hc G A 2: 34,927,636 (GRCm39) A326V probably benign Het
Hectd4 T C 5: 121,442,511 (GRCm39) I1317T probably benign Het
Hlcs A G 16: 94,068,383 (GRCm39) V426A possibly damaging Het
Ighv1-23 T C 12: 114,728,376 (GRCm39) probably benign Het
Itgax G A 7: 127,740,474 (GRCm39) V754I probably benign Het
Krt24 T A 11: 99,173,556 (GRCm39) D255V probably damaging Het
Lnpk T C 2: 74,403,935 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,454,237 (GRCm39) R478L probably damaging Het
Lrrc56 A G 7: 140,789,537 (GRCm39) Q518R probably benign Het
Mbl1 A T 14: 40,880,786 (GRCm39) I225F probably damaging Het
Mmp21 T C 7: 133,277,651 (GRCm39) S392G probably benign Het
Mug2 T G 6: 122,058,551 (GRCm39) F1318V probably damaging Het
Myo5c A G 9: 75,202,487 (GRCm39) N1447S probably null Het
Nbea A C 3: 55,948,297 (GRCm39) V543G probably damaging Het
Necap1 A G 6: 122,857,706 (GRCm39) I96V probably benign Het
Nr3c2 T A 8: 77,937,377 (GRCm39) M872K possibly damaging Het
Nrf1 C T 6: 30,118,967 (GRCm39) T362M probably benign Het
Or14j2 T C 17: 37,885,618 (GRCm39) E232G probably damaging Het
Pcare A G 17: 72,056,930 (GRCm39) S916P probably benign Het
Plekhm3 T C 1: 64,859,149 (GRCm39) E685G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sbk3 A T 7: 4,970,422 (GRCm39) S316T probably benign Het
Serpinb9e T C 13: 33,441,767 (GRCm39) L233P probably damaging Het
Set T A 2: 29,959,422 (GRCm39) S132T possibly damaging Het
Slc17a4 C T 13: 24,092,800 (GRCm39) E11K possibly damaging Het
Slc22a6 T A 19: 8,595,917 (GRCm39) N86K possibly damaging Het
Slco1a6 A G 6: 142,032,325 (GRCm39) L600P probably damaging Het
Sp8 A G 12: 118,812,246 (GRCm39) K34E possibly damaging Het
Spen T A 4: 141,198,796 (GRCm39) E3254V probably benign Het
Tcf12 G A 9: 71,792,525 (GRCm39) P53S probably damaging Het
Tcf3 A G 10: 80,246,045 (GRCm39) V626A probably damaging Het
Trpc4ap A G 2: 155,514,908 (GRCm39) probably null Het
Ttc3 T A 16: 94,230,479 (GRCm39) V892D probably damaging Het
Tub G T 7: 108,625,978 (GRCm39) R243L possibly damaging Het
Tubgcp5 A G 7: 55,473,433 (GRCm39) Y837C probably damaging Het
Utp25 A T 1: 192,810,687 (GRCm39) D105E probably benign Het
Xdh T A 17: 74,232,027 (GRCm39) T228S probably benign Het
Zfp418 A C 7: 7,185,534 (GRCm39) Q499P probably benign Het
Zfpm1 G A 8: 123,062,269 (GRCm39) E443K possibly damaging Het
Zfy1 T C Y: 725,950 (GRCm39) H605R possibly damaging 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
IGL01981:Wdhd1 APN 14 47,498,907 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGTATTCAATCCTTAGCACCACC -3'
(R):5'- CTCCTGGCTAACAAAATGACATG -3'

Sequencing Primer
(F):5'- CTACAGAACATTATGGCGTGCATGC -3'
(R):5'- GGCTAACAAAATGACATGATATTTGC -3'
Posted On 2016-08-04