Incidental Mutation 'R1503:Wdhd1'
ID 169482
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 039553-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1503 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 47478401-47514314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47484857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 885 (D885E)
Ref Sequence ENSEMBL: ENSMUSP00000141182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531] [ENSMUST00000227041]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000111791
AA Change: D885E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: D885E

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 benign
Transcript: ENSMUST00000111792
AA Change: D848E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: D848E

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 benign
Transcript: ENSMUST00000187531
AA Change: D885E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: D885E

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 probably benign
Transcript: ENSMUST00000227041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228810
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Atf7ip G T 6: 136,583,865 (GRCm39) V1299L probably damaging Het
Atp12a A T 14: 56,610,881 (GRCm39) N342Y probably damaging Het
Atp8b5 G A 4: 43,344,430 (GRCm39) G439D probably damaging Het
Bpifb2 G A 2: 153,731,430 (GRCm39) D269N possibly damaging Het
Btd T G 14: 31,389,612 (GRCm39) C444W probably damaging Het
Cacna1a A G 8: 85,328,575 (GRCm39) D1624G probably benign Het
Carmil3 A C 14: 55,735,737 (GRCm39) N563T probably damaging Het
Cars1 T C 7: 143,122,726 (GRCm39) R538G probably benign Het
Catsperd A G 17: 56,961,525 (GRCm39) K416E possibly damaging Het
Cc2d2a A T 5: 43,852,581 (GRCm39) Y386F probably damaging Het
Ccpg1 A G 9: 72,906,760 (GRCm39) N66S probably benign Het
Cd48 T A 1: 171,523,415 (GRCm39) L86H probably damaging Het
Cdan1 A T 2: 120,560,056 (GRCm39) H369Q probably damaging Het
Chil4 T C 3: 106,113,350 (GRCm39) D189G probably benign Het
Cit T A 5: 116,011,959 (GRCm39) Y189N possibly damaging Het
Cntn3 G A 6: 102,441,526 (GRCm39) Q7* probably null Het
Csn1s2a A T 5: 87,923,658 (GRCm39) I5F possibly damaging Het
Ctnnd1 C T 2: 84,435,523 (GRCm39) probably null Het
Dmxl2 A T 9: 54,354,272 (GRCm39) Y391* probably null Het
Dnah12 T C 14: 26,495,649 (GRCm39) S1426P probably damaging Het
Dnhd1 T G 7: 105,342,867 (GRCm39) S1404A possibly damaging Het
Drosha T A 15: 12,848,159 (GRCm39) C484S probably benign Het
Dsg4 A T 18: 20,582,736 (GRCm39) I125F probably damaging Het
Egfr T A 11: 16,819,301 (GRCm39) M277K possibly damaging Het
Eml5 G T 12: 98,797,433 (GRCm39) L1059I probably damaging Het
Erbb4 G T 1: 68,385,705 (GRCm39) H295N probably benign Het
Etl4 T G 2: 20,748,685 (GRCm39) V139G possibly damaging Het
Fhip1a T A 3: 85,579,784 (GRCm39) Y807F possibly damaging Het
Frem3 A T 8: 81,413,647 (GRCm39) E1969D probably damaging Het
Gdf3 T A 6: 122,583,296 (GRCm39) D357V probably damaging Het
Gimap8 T A 6: 48,624,463 (GRCm39) probably null Het
Gml2 C A 15: 74,693,201 (GRCm39) S68* probably null Het
Gphn A G 12: 78,551,403 (GRCm39) I248V possibly damaging Het
Greb1 A T 12: 16,774,820 (GRCm39) Y192* probably null Het
Hmbs A C 9: 44,248,729 (GRCm39) L215W probably benign Het
Iglon5 T A 7: 43,128,449 (GRCm39) T123S probably benign Het
Ints2 C T 11: 86,117,607 (GRCm39) R705H probably damaging Het
Ints8 A T 4: 11,245,842 (GRCm39) L212Q probably damaging Het
Itgad A G 7: 127,797,293 (GRCm39) Y846C probably benign Het
Kcnj1 A G 9: 32,307,788 (GRCm39) T51A probably damaging Het
Kif9 A T 9: 110,339,506 (GRCm39) K449N possibly damaging Het
Kifbp A G 10: 62,395,187 (GRCm39) V485A probably damaging Het
Klk1b11 G A 7: 43,428,333 (GRCm39) W241* probably null Het
Krt32 T C 11: 99,974,936 (GRCm39) probably null Het
Loxl1 A G 9: 58,200,923 (GRCm39) F513S probably damaging Het
Mapk8ip3 A T 17: 25,123,897 (GRCm39) S571T probably damaging Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mtss1 T C 15: 58,823,521 (GRCm39) N282S probably damaging Het
Myh13 T A 11: 67,244,500 (GRCm39) D1012E probably benign Het
Myo16 A G 8: 10,552,817 (GRCm39) T952A probably benign Het
Neb T C 2: 52,188,632 (GRCm39) D874G probably damaging Het
Nek11 A G 9: 105,040,403 (GRCm39) Y553H probably damaging Het
Nr2c2 T A 6: 92,082,312 (GRCm39) V9D probably benign Het
Nxf1 T A 19: 8,739,800 (GRCm39) F51L probably benign Het
Or1e1f T G 11: 73,855,394 (GRCm39) probably null Het
Or1j15 A T 2: 36,458,885 (GRCm39) I92F probably damaging Het
Or2aj5 A G 16: 19,425,062 (GRCm39) S119P probably benign Het
Or4c35 T C 2: 89,808,872 (GRCm39) V250A probably damaging Het
Or5bw2 A G 7: 6,573,470 (GRCm39) N160S probably damaging Het
Or6s1 A G 14: 51,308,191 (GRCm39) S220P probably damaging Het
Or6z6 T C 7: 6,491,178 (GRCm39) I232V probably damaging Het
Pcdhb8 A T 18: 37,489,572 (GRCm39) N76Y probably damaging Het
Pdzrn4 T A 15: 92,297,685 (GRCm39) F217I probably damaging Het
Ppp1r16a T A 15: 76,578,599 (GRCm39) H434Q probably benign Het
Prpf19 T A 19: 10,878,386 (GRCm39) F291I possibly damaging Het
R3hdm2 G T 10: 127,307,695 (GRCm39) E319* probably null Het
Sel1l3 A G 5: 53,295,271 (GRCm39) Y777H probably damaging Het
Serpinb5 G A 1: 106,798,019 (GRCm39) A3T possibly damaging Het
Skp2 C A 15: 9,127,998 (GRCm39) V88F probably damaging Het
Slc25a16 T C 10: 62,764,155 (GRCm39) Y71H probably damaging Het
Slc6a6 T A 6: 91,717,973 (GRCm39) I304N probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sox17 C A 1: 4,562,151 (GRCm39) G222C probably damaging Het
Trmu T A 15: 85,779,220 (GRCm39) V289E possibly damaging Het
Vdac2 A G 14: 21,887,945 (GRCm39) E96G probably damaging Het
Zfp646 A G 7: 127,479,308 (GRCm39) N495S probably damaging Het
Zfp663 T C 2: 165,194,573 (GRCm39) T549A probably damaging Het
Zfp935 G A 13: 62,602,951 (GRCm39) A83V 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
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
Predicted Primers PCR Primer
(F):5'- TGCTTAGAACCTACAGCAGCCTCC -3'
(R):5'- CCACGGGTCAGAAGTCAAGTTGAAG -3'

Sequencing Primer
(F):5'- CCTCCCAGGGATCTTAGAATG -3'
(R):5'- tcaccgacagaacacacc -3'
Posted On 2014-04-13