Incidental Mutation 'IGL01335:Wdhd1'
ID74577
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? Essential (E-score: 1.000) question?
Stock #IGL01335
Quality Score
Status
Chromosome14
Chromosomal Location47240944-47276857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47250782 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 756 (E756G)
Ref Sequence ENSEMBL: ENSMUSP00000141182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531] [ENSMUST00000227041]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111791
AA Change: E756G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: E756G

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: E719G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: E719G

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: E756G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: E756G

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,973,605 probably benign Het
6820408C15Rik T A 2: 152,442,387 M300K possibly damaging Het
Adamts14 T A 10: 61,198,681 R1143W possibly damaging Het
Ankrd28 T C 14: 31,702,024 Y1083C probably damaging Het
Anxa8 T C 14: 34,089,590 M34T probably damaging Het
Aox1 G T 1: 58,082,153 E928* probably null Het
Atp8b5 T A 4: 43,302,628 F50L possibly damaging Het
Brpf1 A G 6: 113,319,337 S863G probably damaging Het
Cdc42bpb A G 12: 111,294,096 probably benign Het
Cdh6 C T 15: 13,051,309 A413T probably benign Het
Cfap97 A G 8: 46,170,455 Q294R probably damaging Het
Cit C T 5: 115,908,830 probably benign Het
Dmbt1 A G 7: 131,088,767 Y736C possibly damaging Het
Eno2 C T 6: 124,766,655 G107E probably damaging Het
Gja8 T C 3: 96,919,242 Q368R probably benign Het
Gm3633 T A 14: 42,640,638 probably benign Het
Gm4987 A T X: 46,455,878 noncoding transcript Het
Gna13 G A 11: 109,365,743 R164Q probably damaging Het
Grhl1 A T 12: 24,608,058 E351D probably damaging Het
Idua A G 5: 108,680,871 Q280R probably benign Het
Igsf5 T A 16: 96,373,153 probably benign Het
Mrpl52 T C 14: 54,427,199 Y39H probably damaging Het
Naa16 A T 14: 79,345,116 probably benign Het
Naa35 T A 13: 59,616,796 L338Q probably damaging Het
Nat8l A T 5: 33,998,447 Y149F probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Ncoa1 A T 12: 4,297,520 S351R probably benign Het
Olfr1046 A T 2: 86,217,572 L46Q probably damaging Het
Olfr1145 A T 2: 87,810,446 T209S probably damaging Het
Olfr1490 A T 19: 13,655,176 H249L probably damaging Het
Olfr765 T C 10: 129,046,511 K184R probably benign Het
Pacs1 A T 19: 5,142,632 V624E probably damaging Het
Pde6b G A 5: 108,423,513 R444H probably benign Het
Pigk A T 3: 152,742,536 T226S probably benign Het
Prkdc T C 16: 15,816,896 probably null Het
Ptbp1 G A 10: 79,862,874 probably null Het
Pyroxd1 T C 6: 142,361,758 V418A probably damaging Het
Rhot1 A T 11: 80,250,229 D421V probably damaging Het
Rimkla T C 4: 119,477,959 T76A possibly damaging Het
Rtn1 A G 12: 72,308,350 V274A probably benign Het
Tatdn2 T A 6: 113,704,056 M289K probably benign Het
Trak1 A G 9: 121,454,316 T476A possibly damaging Het
Ube2i C A 17: 25,269,436 Q11H probably damaging Het
Ugt2a3 A T 5: 87,336,785 C127S probably damaging Het
Uimc1 T A 13: 55,034,911 Q619L probably benign Het
Upk3a T A 15: 85,019,585 Y162N probably damaging Het
Usp33 T C 3: 152,392,217 S849P probably damaging Het
Vmn2r120 G A 17: 57,525,732 T149I possibly damaging Het
Vmn2r15 G A 5: 109,286,736 P701S possibly damaging Het
Vmn2r28 T C 7: 5,481,088 I704M possibly damaging Het
Xlr3c C A X: 73,260,033 V102F probably benign Het
Zfp384 T G 6: 125,025,053 D220E probably benign Het
Zfp521 A T 18: 13,844,719 V879E probably benign Het
Other mutations in Wdhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02966:Wdhd1 APN 14 47241644 missense possibly damaging 0.93
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
R7262:Wdhd1 UTSW 14 47251973 missense probably benign 0.08
R7444:Wdhd1 UTSW 14 47251948 nonsense probably null
R7496:Wdhd1 UTSW 14 47274024 missense probably benign 0.39
R7503:Wdhd1 UTSW 14 47250791 missense probably benign 0.25
Posted On2013-10-07