Mutagenetix > Incidental Mutation

Incidental Mutation 'R1130:Ociad1'

98031

Institutional Source

Beutler Lab

Gene Symbol

Ociad1

Ensembl Gene

ENSMUSG00000029152

Gene Name

OCIA domain containing 1

Synonyms

Asrij, 6030432N09Rik, Imi2, expressed during mesenchymal induction 2, Emi2, TPA018, B230209J16Rik

MMRRC Submission

039203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1130 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73450127-73471412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73451675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 15 (S15P)

Ref Sequence

ENSEMBL: ENSMUSP00000144227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031038] [ENSMUST00000071081] [ENSMUST00000166823] [ENSMUST00000200935] [ENSMUST00000201505] [ENSMUST00000201556] [ENSMUST00000201739] [ENSMUST00000202250] [ENSMUST00000202237]

AlphaFold

Q9CRD0

Predicted Effect

probably benign
Transcript: ENSMUST00000031038
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	8	112	8e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071081
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	3	112	8.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166823
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	3	112	8.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200935
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	8	112	4.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201505
AA Change: S15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000201556
AA Change: S15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	8	112	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201739

Predicted Effect

probably benign
Transcript: ENSMUST00000202250
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
AA Change: S15P

Domain	Start	End	E-Value	Type
Pfam:OCIA	8	112	4.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202237

SMART Domains

Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152

Domain	Start	End	E-Value	Type
Pfam:OCIA	1	58	1.8e-22	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,943,561 (GRCm39)	H58Y	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Armc2	T	C	10: 41,887,830 (GRCm39)	D51G	possibly damaging	Het
Aspm	A	T	1: 139,405,572 (GRCm39)	K1486N	possibly damaging	Het
Aurka	A	T	2: 172,199,178 (GRCm39)		probably null	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cldn20	T	C	17: 3,583,243 (GRCm39)	Y139H	probably damaging	Het
Defb19	C	A	2: 152,418,109 (GRCm39)	E76*	probably null	Het
Fcho2	A	T	13: 98,884,797 (GRCm39)	D423E	probably damaging	Het
Frem1	T	G	4: 82,834,865 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,165,509 (GRCm39)	T333M	probably damaging	Het
Gm9945	T	A	11: 53,371,345 (GRCm39)		probably benign	Het
Gml2	G	A	15: 74,693,195 (GRCm39)	C66Y	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnh2	G	A	5: 24,536,823 (GRCm39)	R254*	probably null	Het
Megf10	T	C	18: 57,395,078 (GRCm39)	V480A	probably benign	Het
Nrde2	A	T	12: 100,091,929 (GRCm39)	M1152K	probably damaging	Het
Ptprj	A	G	2: 90,283,765 (GRCm39)	V803A	probably damaging	Het
Rxylt1	T	C	10: 121,931,847 (GRCm39)	I109V	possibly damaging	Het
Skint7	T	C	4: 111,841,355 (GRCm39)	I265T	probably benign	Het
Srsf2	A	G	11: 116,743,009 (GRCm39)		probably benign	Het
Tac2	A	G	10: 127,565,371 (GRCm39)	N108D	possibly damaging	Het

Other mutations in Ociad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ociad1	APN	5	73,461,886 (GRCm39)	splice site	probably benign
IGL00801:Ociad1	APN	5	73,461,909 (GRCm39)	missense	probably damaging	1.00
IGL02402:Ociad1	APN	5	73,458,037 (GRCm39)	missense	possibly damaging	0.72
IGL03197:Ociad1	APN	5	73,451,675 (GRCm39)	missense	probably benign	0.00
Bequerel	UTSW	5	73,467,725 (GRCm39)	missense	probably benign	0.00
Curie	UTSW	5	73,467,688 (GRCm39)	nonsense	probably null
R0420:Ociad1	UTSW	5	73,470,772 (GRCm39)	splice site	probably null
R0707:Ociad1	UTSW	5	73,452,255 (GRCm39)	splice site	probably benign
R1744:Ociad1	UTSW	5	73,458,062 (GRCm39)	critical splice donor site	probably null
R2848:Ociad1	UTSW	5	73,451,694 (GRCm39)	splice site	probably null
R3157:Ociad1	UTSW	5	73,467,688 (GRCm39)	nonsense	probably null
R3159:Ociad1	UTSW	5	73,467,688 (GRCm39)	nonsense	probably null
R4686:Ociad1	UTSW	5	73,464,078 (GRCm39)	missense	possibly damaging	0.77
R5002:Ociad1	UTSW	5	73,467,659 (GRCm39)	missense	possibly damaging	0.82
R5398:Ociad1	UTSW	5	73,467,755 (GRCm39)	missense	probably benign	0.00
R5483:Ociad1	UTSW	5	73,452,314 (GRCm39)	missense	probably damaging	1.00
R5921:Ociad1	UTSW	5	73,467,725 (GRCm39)	missense	probably benign	0.00
R7220:Ociad1	UTSW	5	73,470,809 (GRCm39)	missense	probably benign	0.00
R7511:Ociad1	UTSW	5	73,452,338 (GRCm39)	missense	probably damaging	1.00
R7796:Ociad1	UTSW	5	73,452,290 (GRCm39)	missense	probably damaging	0.99
R9053:Ociad1	UTSW	5	73,460,951 (GRCm39)	missense	probably damaging	1.00
R9180:Ociad1	UTSW	5	73,467,725 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTAGGGGATACAATGCAGTTTCGTTT -3'
(R):5'- GCCCGATTTCTGTTACTCAGGCAA -3'

Sequencing Primer
(F):5'- tcctatcacagtatcacaaccatc -3'
(R):5'- ggagagatggctcagcag -3'

Posted On

2014-01-05