Incidental Mutation 'IGL02987:Khdc3'
ID406773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khdc3
Ensembl Gene ENSMUSG00000092622
Gene NameKH domain containing 3, subcortical maternal complex member
Synonyms2410004A20Rik, FILIA, ecat1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02987
Quality Score
Status
Chromosome9
Chromosomal Location73101836-73104438 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73102666 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 53 (I53V)
Ref Sequence ENSEMBL: ENSMUSP00000133915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034737] [ENSMUST00000167514] [ENSMUST00000172578] [ENSMUST00000173734] [ENSMUST00000174203]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034737
AA Change: I53V

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034737
Gene: ENSMUSG00000092622
AA Change: I53V

DomainStartEndE-ValueType
Pfam:MOEP19 28 113 4.5e-34 PFAM
internal_repeat_1 117 217 6.81e-11 PROSPERO
internal_repeat_1 218 316 6.81e-11 PROSPERO
internal_repeat_2 275 397 3.62e-8 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000167514
AA Change: I53V

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132527
Gene: ENSMUSG00000092622
AA Change: I53V

DomainStartEndE-ValueType
internal_repeat_1 117 212 2.21e-8 PROSPERO
internal_repeat_1 207 356 2.21e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000172578
AA Change: I53V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133850
Gene: ENSMUSG00000092622
AA Change: I53V

DomainStartEndE-ValueType
PDB:3V69|B 1 75 4e-49 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000173734
AA Change: I53V

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133915
Gene: ENSMUSG00000092622
AA Change: I53V

DomainStartEndE-ValueType
internal_repeat_2 116 194 1.27e-8 PROSPERO
internal_repeat_1 117 231 1.6e-13 PROSPERO
internal_repeat_1 231 341 1.6e-13 PROSPERO
internal_repeat_2 267 344 1.27e-8 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000174203
AA Change: I53V
SMART Domains Protein: ENSMUSP00000134473
Gene: ENSMUSG00000092310
AA Change: I53V

DomainStartEndE-ValueType
internal_repeat_1 116 173 5.47e-9 PROSPERO
internal_repeat_1 177 233 5.47e-9 PROSPERO
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 belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display a maternal effect defect in embryogenesis with delayed embryonic development and spindle abnormalities resulting in decreased litter sizes for homozygous females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Asf1a T C 10: 53,597,271 F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dgkh A G 14: 78,589,872 probably null Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gfral A G 9: 76,197,301 V143A possibly damaging Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Lce1a1 T C 3: 92,647,102 T22A unknown Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc25a54 T C 3: 109,116,337 V416A probably benign Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign Het
Other mutations in Khdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1487:Khdc3 UTSW 9 73102564 missense probably benign 0.19
R1523:Khdc3 UTSW 9 73103491 missense possibly damaging 0.53
R1545:Khdc3 UTSW 9 73103660 missense probably benign 0.05
R1951:Khdc3 UTSW 9 73103237 missense possibly damaging 0.48
R2935:Khdc3 UTSW 9 73103705 missense possibly damaging 0.92
R3076:Khdc3 UTSW 9 73102930 missense probably damaging 1.00
R3880:Khdc3 UTSW 9 73103590 missense possibly damaging 0.73
R3899:Khdc3 UTSW 9 73104346 intron probably benign
R3900:Khdc3 UTSW 9 73104346 intron probably benign
R4224:Khdc3 UTSW 9 73102871 missense possibly damaging 0.92
R4412:Khdc3 UTSW 9 73102874 missense possibly damaging 0.93
R4529:Khdc3 UTSW 9 73104019 missense possibly damaging 0.83
R4647:Khdc3 UTSW 9 73102586 missense possibly damaging 0.81
R4648:Khdc3 UTSW 9 73102586 missense possibly damaging 0.81
R5153:Khdc3 UTSW 9 73103438 missense probably benign 0.18
R5261:Khdc3 UTSW 9 73103486 missense possibly damaging 0.92
X0024:Khdc3 UTSW 9 73103924 missense probably benign 0.01
X0026:Khdc3 UTSW 9 73102983 missense possibly damaging 0.95
X0066:Khdc3 UTSW 9 73104181 missense probably benign 0.00
Posted On2016-08-02