Incidental Mutation 'IGL02966:Wdhd1'
ID365566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdhd1
Ensembl Gene ENSMUSG00000037572
Gene NameWD repeat and HMG-box DNA binding protein 1
SynonymsAND-1, D630024B06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.980) question?
Stock #IGL02966
Quality Score
Status
Chromosome14
Chromosomal Location47240944-47276857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47241644 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1072 (K1072E)
Ref Sequence ENSEMBL: ENSMUSP00000107422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111791
AA Change: K1109E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: K1109E

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 possibly damaging
Transcript: ENSMUST00000111792
AA Change: K1072E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: K1072E

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 possibly damaging
Transcript: ENSMUST00000187531
AA Change: K1109E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: K1109E

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: ENSMUST00000228810
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 G147E probably damaging Het
Adam18 A T 8: 24,611,149 probably benign Het
Ahcyl2 G A 6: 29,880,557 V175I probably benign Het
Alox12 T A 11: 70,250,085 T375S probably damaging Het
Batf2 C A 19: 6,171,789 Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 S76P probably damaging Het
Bphl A T 13: 34,063,997 H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 E82D probably damaging Het
Calu A T 6: 29,356,585 K39* probably null Het
Capns1 T C 7: 30,192,193 D142G probably damaging Het
Ccr8 T C 9: 120,094,140 V107A probably damaging Het
Cep170b G A 12: 112,736,444 G447D possibly damaging Het
Chat C T 14: 32,448,946 V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 V918L probably damaging Het
Cyp27a1 A G 1: 74,732,090 T145A probably benign Het
Dgkq T A 5: 108,656,421 probably null Het
Dnhd1 A G 7: 105,720,741 I4458V probably benign Het
Enpp1 T A 10: 24,660,274 E409D probably damaging Het
Fam78b G T 1: 167,078,888 L205F probably damaging Het
Foxr2 C A X: 153,130,681 R183S probably damaging Het
Ganc T C 2: 120,433,648 S361P probably damaging Het
Gfra4 C A 2: 131,042,640 A15S possibly damaging Het
Gm8011 A T 14: 42,466,000 D145V unknown Het
Gnb4 A G 3: 32,585,223 V307A probably benign Het
Hdac4 A T 1: 92,054,945 V17E possibly damaging Het
Herc6 G A 6: 57,583,333 probably null Het
Hivep3 A G 4: 120,132,186 T1945A probably benign Het
Ica1l A T 1: 60,010,139 N218K probably damaging Het
Kmt2b A T 7: 30,575,462 L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
March8 C T 6: 116,403,538 R117C probably damaging Het
Megf6 T C 4: 154,253,777 S327P probably damaging Het
Mocos T G 18: 24,676,611 C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 W14R probably benign Het
Mysm1 A T 4: 94,975,286 D23E probably benign Het
Naa35 T A 13: 59,586,271 D34E probably benign Het
Nid1 A G 13: 13,482,221 I646V probably benign Het
Nupr1 T C 7: 126,624,901 probably benign Het
Olfr1449 A T 19: 12,934,800 I21F probably benign Het
Olfr171 G T 16: 19,624,301 H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 L309R probably benign Het
Pcbp2 A C 15: 102,484,249 probably benign Het
Pde8b T C 13: 95,095,648 Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 S885P probably benign Het
Poc1b T A 10: 99,144,314 C136S probably damaging Het
Pole2 T C 12: 69,209,875 D292G probably damaging Het
Prpf39 T C 12: 65,042,779 V97A probably benign Het
Rbbp8 T A 18: 11,705,812 H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 T600M possibly damaging Het
Spata32 T C 11: 103,208,803 Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 probably benign Het
Sult3a1 A C 10: 33,877,273 probably benign Het
Tpm3-rs7 C T 14: 113,315,378 Q235* probably null Het
Trbv2 A T 6: 41,047,751 T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 Y193C probably benign Het
Ttn T C 2: 76,708,458 K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 Y433H probably damaging Het
Other mutations in Wdhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Wdhd1 APN 14 47250782 missense possibly damaging 0.87
IGL01789:Wdhd1 APN 14 47274817 missense probably benign 0.10
IGL01981:Wdhd1 APN 14 47261450 missense probably damaging 1.00
IGL02034:Wdhd1 APN 14 47261351 missense probably benign 0.02
IGL02932:Wdhd1 APN 14 47272134 critical splice donor site probably null
IGL03355:Wdhd1 APN 14 47243889 missense possibly damaging 0.78
R0165:Wdhd1 UTSW 14 47267068 missense probably benign 0.00
R0414:Wdhd1 UTSW 14 47276588 missense probably benign
R0603:Wdhd1 UTSW 14 47263586 missense probably damaging 1.00
R1503:Wdhd1 UTSW 14 47247400 missense probably benign 0.00
R1539:Wdhd1 UTSW 14 47245050 missense possibly damaging 0.63
R1541:Wdhd1 UTSW 14 47268192 nonsense probably null
R1588:Wdhd1 UTSW 14 47256236 missense probably damaging 1.00
R1686:Wdhd1 UTSW 14 47256215 missense probably damaging 1.00
R1916:Wdhd1 UTSW 14 47258577 missense possibly damaging 0.89
R1952:Wdhd1 UTSW 14 47270190 missense probably damaging 1.00
R2320:Wdhd1 UTSW 14 47274028 missense probably benign 0.06
R2421:Wdhd1 UTSW 14 47258584 missense probably benign 0.00
R3731:Wdhd1 UTSW 14 47247892 missense possibly damaging 0.89
R3818:Wdhd1 UTSW 14 47243801 critical splice donor site probably null
R3836:Wdhd1 UTSW 14 47245054 missense probably benign 0.01
R4789:Wdhd1 UTSW 14 47268692 missense probably benign 0.01
R4963:Wdhd1 UTSW 14 47268689 missense possibly damaging 0.66
R4994:Wdhd1 UTSW 14 47268654 critical splice donor site probably null
R5225:Wdhd1 UTSW 14 47250816 missense probably benign 0.01
R5347:Wdhd1 UTSW 14 47268724 nonsense probably null
R5377:Wdhd1 UTSW 14 47272221 missense probably benign 0.15
R6038:Wdhd1 UTSW 14 47263580 missense possibly damaging 0.89
R6038:Wdhd1 UTSW 14 47263580 missense possibly damaging 0.89
R6046:Wdhd1 UTSW 14 47273210 nonsense probably null
R6156:Wdhd1 UTSW 14 47268196 missense probably damaging 0.99
R6289:Wdhd1 UTSW 14 47258496 missense possibly damaging 0.95
R6298:Wdhd1 UTSW 14 47273122 missense possibly damaging 0.67
R6345:Wdhd1 UTSW 14 47251922 missense probably damaging 0.99
R6405:Wdhd1 UTSW 14 47243867 missense possibly damaging 0.91
R6500:Wdhd1 UTSW 14 47250760 splice site probably null
R6564:Wdhd1 UTSW 14 47248042 missense probably benign
R6897:Wdhd1 UTSW 14 47248130 missense probably damaging 1.00
Posted On2015-12-18