Mutagenetix > Incidental Mutation

Incidental Mutation 'R5483:Ociad1'

434429

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

043044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5483 (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 73452314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 35 (F35S)

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 damaging
Transcript: ENSMUST00000031038
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: F35S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071081
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
AA Change: F35S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166823
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
AA Change: F35S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200935
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
AA Change: F35S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201505
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000201556
AA Change: F35S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
AA Change: F35S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201739

Predicted Effect

probably damaging
Transcript: ENSMUST00000202250
AA Change: F35S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
AA Change: F35S

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: 97.5%
10x: 94.8%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap206	G	T	4: 34,711,404 (GRCm39)	Q498K	probably benign	Het
Dnmt3a	A	G	12: 3,949,615 (GRCm39)	Y524C	probably damaging	Het
Dnttip2	A	T	3: 122,070,446 (GRCm39)	T554S	probably damaging	Het
Emc1	A	G	4: 139,102,687 (GRCm39)	T949A	probably damaging	Het
Enkur	A	T	2: 21,199,109 (GRCm39)	F142I	probably benign	Het
Fbxo24	C	T	5: 137,617,002 (GRCm39)	A362T	probably damaging	Het
Heatr1	A	G	13: 12,413,795 (GRCm39)	H124R	probably damaging	Het
Hira	T	A	16: 18,788,290 (GRCm39)	I1011N	possibly damaging	Het
Ipo5	T	A	14: 121,157,450 (GRCm39)	I96N	probably benign	Het
Kctd16	A	G	18: 40,663,929 (GRCm39)	I353V	probably benign	Het
Klf11	T	A	12: 24,705,410 (GRCm39)	L288*	probably null	Het
Kmt2a	A	T	9: 44,735,921 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,783,989 (GRCm39)	Y373H	probably damaging	Het
Mlh1	G	A	9: 111,060,126 (GRCm39)	A584V	possibly damaging	Het
Or11l3	T	A	11: 58,516,783 (GRCm39)	I30F	possibly damaging	Het
Or6c208	T	C	10: 129,223,526 (GRCm39)	I8T	probably benign	Het
Or8u3-ps	C	T	2: 85,952,962 (GRCm39)	Q232*	probably null	Het
Pkd1l1	C	T	11: 8,851,141 (GRCm39)		probably null	Het
Pole	T	A	5: 110,442,434 (GRCm39)	D287E	probably damaging	Het
Polh	G	T	17: 46,483,671 (GRCm39)	S531R	probably benign	Het
Prss29	A	G	17: 25,541,177 (GRCm39)	K207R	probably benign	Het
Rasgrp3	T	G	17: 75,832,013 (GRCm39)	S611R	probably damaging	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Scrib	A	G	15: 75,939,508 (GRCm39)		probably null	Het
Serpinb3a	T	A	1: 106,974,899 (GRCm39)	K211N	probably benign	Het
Slc22a3	C	T	17: 12,683,354 (GRCm39)	A170T	probably damaging	Het
Socs5	T	G	17: 87,442,402 (GRCm39)	F447L	probably damaging	Het
Srrm2	T	A	17: 24,040,246 (GRCm39)	S2393T	probably damaging	Het
Usp7	T	A	16: 8,516,404 (GRCm39)	Y585F	probably benign	Het
Vps39	A	T	2: 120,153,564 (GRCm39)	I670N	probably benign	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
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
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'- GCCTGTCTGACTAGTGGGTAGTAAG -3'
(R):5'- TCCCAAAAGTGTCCCAATATAGTC -3'

Sequencing Primer
(F):5'- AGTGACAAGCCAGTTGTC -3'
(R):5'- GCAAACACTAGGCTCTGAGTTCTG -3'

Posted On

2016-10-06