Mutagenetix > Incidental Mutation

Incidental Mutation 'R2848:Ociad1'

251818

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

040441-MU

Accession Numbers

Essential gene?

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

Stock #

R2848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73450127-73471412 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 73451694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143799 (fasta)

Gene Model

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

AlphaFold

Q9CRD0

Predicted Effect

probably null
Transcript: ENSMUST00000031038

SMART Domains

Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152

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

Predicted Effect

probably null
Transcript: ENSMUST00000071081

SMART Domains

Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152

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

Predicted Effect

probably null
Transcript: ENSMUST00000166823

SMART Domains

Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152

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

Predicted Effect

probably null
Transcript: ENSMUST00000200935

SMART Domains

Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152

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

Predicted Effect

probably null
Transcript: ENSMUST00000201505

Predicted Effect

probably null
Transcript: ENSMUST00000201556

SMART Domains

Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201739

Predicted Effect

probably null
Transcript: ENSMUST00000202250

SMART Domains

Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,894 (GRCm39)	F101Y	possibly damaging	Het
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Adamts14	T	A	10: 61,054,214 (GRCm39)	Q606L	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Baz2b	A	T	2: 59,755,010 (GRCm39)	Y1073N	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Dnah3	A	G	7: 119,567,161 (GRCm39)	V2355A	probably benign	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,268,446 (GRCm39)	W396*	probably null	Het
Itga8	A	T	2: 12,165,215 (GRCm39)	V798D	probably damaging	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Myh4	A	G	11: 67,139,459 (GRCm39)	N592S	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nek8	A	G	11: 78,058,967 (GRCm39)	S513P	probably damaging	Het
Or1j4	A	G	2: 36,740,811 (GRCm39)	Y251C	probably damaging	Het
Or2t35	C	T	14: 14,407,398 (GRCm38)	P57S	probably damaging	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pcdh7	G	A	5: 57,877,618 (GRCm39)	G391E	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppargc1a	A	G	5: 51,631,151 (GRCm39)	F493L	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Shfl	A	T	9: 20,784,868 (GRCm39)	H225L	probably damaging	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Try5	C	T	6: 41,290,410 (GRCm39)	V25I	probably benign	Het
Ttn	G	T	2: 76,749,551 (GRCm39)	Q3833K	probably benign	Het
Usp53	G	A	3: 122,728,140 (GRCm39)	P814L	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
R1130:Ociad1	UTSW	5	73,451,675 (GRCm39)	missense	probably benign	0.00
R1744:Ociad1	UTSW	5	73,458,062 (GRCm39)	critical splice donor 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'- TTCAATCAAAGGGTCGAATGTG -3'
(R):5'- AATGTCCTTACCCAGAAAGTGTTAC -3'

Sequencing Primer
(F):5'- GCACCAGGCATGTTAGTGTATAC -3'
(R):5'- TACTTAATATGGAAGTTACCAGGAGG -3'

Posted On

2014-12-04