Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Ocel1'

506118

Institutional Source

Beutler Lab

Gene Symbol

Ocel1

Ensembl Gene

ENSMUSG00000002396

Gene Name

occludin/ELL domain containing 1

Synonyms

MMRRC Submission

044373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6256 (G1)

Quality Score

85.0076

Status

Validated

Chromosome

Chromosomal Location

71371298-71379361 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 71371828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002466] [ENSMUST00000002469] [ENSMUST00000019169] [ENSMUST00000110051] [ENSMUST00000110052] [ENSMUST00000110053] [ENSMUST00000110054] [ENSMUST00000137058] [ENSMUST00000139541]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002466

SMART Domains

Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
ZnF_C4	54	125	1.48e-38	SMART
low complexity region	173	185	N/A	INTRINSIC
HOLI	191	351	1.07e-39	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000002469
AA Change: S52P

SMART Domains

Protein: ENSMUSP00000002469
Gene: ENSMUSG00000002396
AA Change: S52P

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC
Pfam:Occludin_ELL	106	207	8.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019169

SMART Domains

Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	266	9.7e-110	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000110051
AA Change: S52P

SMART Domains

Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396
AA Change: S52P

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110052
AA Change: S52P

SMART Domains

Protein: ENSMUSP00000105679
Gene: ENSMUSG00000002396
AA Change: S52P

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110053

SMART Domains

Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	30	280	4.6e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110054

SMART Domains

Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	266	9.7e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124732

SMART Domains

Protein: ENSMUSP00000116498
Gene: ENSMUSG00000002393

Domain	Start	End	E-Value	Type
ZnF_C4	38	80	4.35e-4	SMART
low complexity region	128	140	N/A	INTRINSIC
HOLI	146	254	2.72e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156270

Predicted Effect

probably benign
Transcript: ENSMUST00000137058

SMART Domains

Protein: ENSMUSP00000121648
Gene: ENSMUSG00000002393

Domain	Start	End	E-Value	Type
low complexity region	39	62	N/A	INTRINSIC
ZnF_C4	76	118	4.35e-4	SMART
Pfam:Hormone_recep	175	270	9.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142685

Predicted Effect

probably benign
Transcript: ENSMUST00000139541

SMART Domains

Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	74	2e-25	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Ocel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1084:Ocel1	UTSW	8	71371988	splice site	probably null
R4744:Ocel1	UTSW	8	71372753	missense	probably damaging	1.00
R5560:Ocel1	UTSW	8	71372478	missense	probably damaging	0.99
R7653:Ocel1	UTSW	8	71371916	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCGGTTTCAAGAATGGGGC -3'
(R):5'- TCTTACAACGAGTGGGCAC -3'

Sequencing Primer
(F):5'- AGCCACTCTCGAGCATGACG -3'
(R):5'- CTCACAGCTCGTAGTCAGGTAC -3'

Posted On

2018-02-28