Incidental Mutation 'IGL03365:Ofd1'
ID420045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ofd1
Ensembl Gene ENSMUSG00000040586
Gene NameOFD1, centriole and centriolar satellite protein
SynonymsDXGgc7e, ORF2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL03365
Quality Score
Status
ChromosomeX
Chromosomal Location166390033-166440704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 166392516 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 951 (V951F)
Ref Sequence ENSEMBL: ENSMUSP00000041744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049501] [ENSMUST00000060210] [ENSMUST00000112223] [ENSMUST00000112224] [ENSMUST00000112226] [ENSMUST00000112227] [ENSMUST00000112228] [ENSMUST00000112229] [ENSMUST00000112233] [ENSMUST00000112235]
Predicted Effect probably damaging
Transcript: ENSMUST00000049501
AA Change: V951F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041744
Gene: ENSMUSG00000040586
AA Change: V951F

DomainStartEndE-ValueType
LisH 71 103 3.09e-3 SMART
coiled coil region 231 262 N/A INTRINSIC
coiled coil region 289 350 N/A INTRINSIC
low complexity region 368 380 N/A INTRINSIC
coiled coil region 391 559 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
coiled coil region 628 661 N/A INTRINSIC
low complexity region 724 742 N/A INTRINSIC
low complexity region 775 784 N/A INTRINSIC
coiled coil region 898 968 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060210
SMART Domains Protein: ENSMUSP00000060442
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 144 204 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112223
SMART Domains Protein: ENSMUSP00000107842
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 203 263 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112224
SMART Domains Protein: ENSMUSP00000107843
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 163 223 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112226
SMART Domains Protein: ENSMUSP00000107845
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 163 223 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112227
SMART Domains Protein: ENSMUSP00000107846
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 203 263 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112228
SMART Domains Protein: ENSMUSP00000107847
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 163 223 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112229
SMART Domains Protein: ENSMUSP00000107848
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 203 263 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112233
SMART Domains Protein: ENSMUSP00000107852
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 144 204 3.3e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112235
SMART Domains Protein: ENSMUSP00000107854
Gene: ENSMUSG00000031342

DomainStartEndE-ValueType
PLP 144 204 3.3e-43 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Hemizygous conditional deletion of this gene results in embryonic lethality during organogenesis, impaired left-right axis patterning, and malformation of Henson's node cells. Heterozygous conditional deletion of this gene results in neonatal lethality, cystic kidneys, polydactyly, and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Ofd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03008:Ofd1 APN X 166409534 missense probably benign
R0614:Ofd1 UTSW X 166435540 splice site probably benign
R1771:Ofd1 UTSW X 166406006 missense probably benign 0.16
R1776:Ofd1 UTSW X 166406006 missense probably benign 0.16
R1969:Ofd1 UTSW X 166427214 missense probably benign 0.23
R1970:Ofd1 UTSW X 166427214 missense probably benign 0.23
R1971:Ofd1 UTSW X 166427214 missense probably benign 0.23
Posted On2016-08-02