Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Ofd1'

420045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ofd1

Ensembl Gene

ENSMUSG00000040586

Gene Name

OFD1, centriole and centriolar satellite protein

Synonyms

oral-facial-digital syndrome 1 gene homolog (human), ORF2, DXGgc7e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.608) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

165173029-165223700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 165175512 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000112233] [ENSMUST00000112229] [ENSMUST00000112235]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PLP	144	204	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112223

SMART Domains

Protein: ENSMUSP00000107842
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	203	263	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112224

SMART Domains

Protein: ENSMUSP00000107843
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	163	223	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112226

SMART Domains

Protein: ENSMUSP00000107845
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	163	223	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112227

SMART Domains

Protein: ENSMUSP00000107846
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	203	263	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112228

SMART Domains

Protein: ENSMUSP00000107847
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	163	223	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112233

SMART Domains

Protein: ENSMUSP00000107852
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	144	204	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112229

SMART Domains

Protein: ENSMUSP00000107848
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
PLP	203	263	3.3e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112235

SMART Domains

Protein: ENSMUSP00000107854
Gene: ENSMUSG00000031342

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,248,225 (GRCm39)	V380L	probably benign	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mri1	A	G	8: 84,978,262 (GRCm39)	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Or6c208	T	A	10: 129,224,108 (GRCm39)	V202D	possibly damaging	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Pcdh11x	T	A	X: 119,425,935 (GRCm39)	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Qser1	T	A	2: 104,617,344 (GRCm39)	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	possibly damaging	Het

Other mutations in Ofd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03008:Ofd1	APN	X	165,192,530 (GRCm39)	missense	probably benign
R0614:Ofd1	UTSW	X	165,218,536 (GRCm39)	splice site	probably benign
R1771:Ofd1	UTSW	X	165,189,002 (GRCm39)	missense	probably benign	0.16
R1776:Ofd1	UTSW	X	165,189,002 (GRCm39)	missense	probably benign	0.16
R1969:Ofd1	UTSW	X	165,210,210 (GRCm39)	missense	probably benign	0.23
R1970:Ofd1	UTSW	X	165,210,210 (GRCm39)	missense	probably benign	0.23
R1971:Ofd1	UTSW	X	165,210,210 (GRCm39)	missense	probably benign	0.23
Z1177:Ofd1	UTSW	X	165,191,589 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02