Mutagenetix > Incidental Mutation

Incidental Mutation 'R7796:Ociad1'

600224

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

045852-MU

Accession Numbers

Essential gene?

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

Stock #

R7796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73450127-73471412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73452290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 27 (P27L)

Ref Sequence

ENSEMBL: ENSMUSP00000031038 (fasta)

Gene Model

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

AlphaFold

Q9CRD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031038
AA Change: P27L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: P27L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071081
AA Change: P27L

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

SMART Domains

Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
AA Change: P27L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166823
AA Change: P27L

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

SMART Domains

Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
AA Change: P27L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200935
AA Change: P27L

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

SMART Domains

Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
AA Change: P27L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201505
AA Change: P27L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000201556
AA Change: P27L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
AA Change: P27L

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: ENSMUST00000202237

SMART Domains

Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202250
AA Change: P27L

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

SMART Domains

Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
AA Change: P27L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	T	A	16: 97,867,024 (GRCm39)	I313F	probably benign	Het
Acot2	T	A	12: 84,035,257 (GRCm39)		probably null	Het
Agbl4	G	T	4: 110,518,165 (GRCm39)	G152V	unknown	Het
Arap2	A	G	5: 62,888,105 (GRCm39)	S414P	probably damaging	Het
Cep85l	A	C	10: 53,157,497 (GRCm39)	N735K	probably damaging	Het
Col12a1	T	C	9: 79,585,833 (GRCm39)	S1209G	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dpf1	C	G	7: 29,011,106 (GRCm39)	N168K	possibly damaging	Het
Dync1li2	T	A	8: 105,157,181 (GRCm39)	Y184F	probably damaging	Het
Epb41l2	A	G	10: 25,319,727 (GRCm39)	T187A	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fndc3b	G	A	3: 27,515,892 (GRCm39)	T638I	probably benign	Het
Gm11564	A	G	11: 99,706,424 (GRCm39)	V2A	unknown	Het
Gm3159	A	G	14: 4,400,560 (GRCm38)	*206W	probably null	Het
Gm32742	A	G	9: 51,071,123 (GRCm39)		probably null	Het
Gm4847	G	A	1: 166,469,819 (GRCm39)	H85Y	probably damaging	Het
Gprc5c	A	T	11: 114,755,358 (GRCm39)	D345V	probably damaging	Het
Kalrn	A	T	16: 34,007,854 (GRCm39)	Y1363*	probably null	Het
Kdm5a	T	C	6: 120,367,724 (GRCm39)	V473A	probably damaging	Het
Kidins220	T	C	12: 25,032,350 (GRCm39)	C28R	probably damaging	Het
Klhl5	T	C	5: 65,321,965 (GRCm39)	Y664H	probably damaging	Het
Krt17	A	G	11: 100,151,698 (GRCm39)	S32P	probably benign	Het
Krt87	A	G	15: 101,383,865 (GRCm39)	V424A	possibly damaging	Het
Lipo3	T	C	19: 33,759,634 (GRCm39)	T201A	possibly damaging	Het
Map2	A	G	1: 66,455,654 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,410,731 (GRCm39)	T680N	possibly damaging	Het
Metap1d	T	A	2: 71,342,506 (GRCm39)	D178E	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mki67	A	G	7: 135,299,923 (GRCm39)	S1704P	probably damaging	Het
Nr2f2	A	G	7: 70,007,901 (GRCm39)	S194P	probably benign	Het
Nrsn2	T	A	2: 152,218,471 (GRCm39)		probably benign	Het
Or13p5	T	A	4: 118,591,882 (GRCm39)	I52N	probably damaging	Het
Or4a39	T	A	2: 89,237,157 (GRCm39)	T89S	possibly damaging	Het
Patj	A	T	4: 98,435,220 (GRCm39)	M1L	probably benign	Het
Pcdhb2	A	G	18: 37,428,446 (GRCm39)	I140V	possibly damaging	Het
Pla2g6	T	C	15: 79,202,025 (GRCm39)	N49D	probably benign	Het
Pramel22	T	A	4: 143,380,727 (GRCm39)	D432V	possibly damaging	Het
Pxdc1	T	A	13: 34,836,354 (GRCm39)	N22I	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,865 (GRCm39)	Y672H	probably damaging	Het
Rps23rg1	T	C	8: 3,634,160 (GRCm39)	V111A	probably benign	Het
Safb2	T	C	17: 56,873,327 (GRCm39)	R779G	possibly damaging	Het
Skic2	C	T	17: 35,063,394 (GRCm39)	G628S	probably damaging	Het
Smg5	A	T	3: 88,256,739 (GRCm39)	Q299L	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sulf1	T	C	1: 12,929,044 (GRCm39)	L864S	probably benign	Het
Tas1r1	A	G	4: 152,119,212 (GRCm39)	V119A	probably benign	Het
Tasp1	T	C	2: 139,850,705 (GRCm39)	N106S	probably damaging	Het
Tcf4	T	A	18: 69,697,140 (GRCm39)	N156K	probably benign	Het
Trav14n-3	T	A	14: 53,607,827 (GRCm39)	Y52*	probably null	Het
Ttn	T	C	2: 76,665,222 (GRCm39)	E11598G	unknown	Het
Unc80	A	G	1: 66,542,873 (GRCm39)	I376V	probably benign	Het
Ybx3	T	C	6: 131,345,479 (GRCm39)	E298G	probably damaging	Het
Yipf7	T	C	5: 69,684,596 (GRCm39)	Y73C	possibly damaging	Het
Zdbf2	G	A	1: 63,342,583 (GRCm39)	A321T	possibly damaging	Het
Zfp369	A	G	13: 65,444,029 (GRCm39)	R391G	probably benign	Het
Zfp54	A	G	17: 21,654,982 (GRCm39)	E492G	probably damaging	Het
Zfp971	A	G	2: 177,673,403 (GRCm39)	T51A	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
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
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'- CCTGTCTGACTAGTGGGTAGTAAG -3'
(R):5'- ATCCCAAAAGTGTCCCAATATAGTC -3'

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

Posted On

2019-11-26