Mutagenetix > Incidental Mutations

Incidental Mutation 'R1366:Cir1'

156023

Institutional Source

Beutler Lab

Gene Symbol

Cir1

Ensembl Gene

ENSMUSG00000041777

Gene Name

corepressor interacting with RBPJ, 1

Synonyms

CIR, 1700023B02Rik, 2810021A19Rik

MMRRC Submission

039431-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73283105-73312701 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 73306413 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058615]

Predicted Effect

probably benign
Transcript: ENSMUST00000058615

SMART Domains

Protein: ENSMUSP00000049834
Gene: ENSMUSG00000041777

Domain	Start	End	E-Value	Type
Cir_N	13	49	6.03e-14	SMART
low complexity region	79	97	N/A	INTRINSIC
Blast:ZnF_C2HC	127	145	9e-6	BLAST
coiled coil region	213	261	N/A	INTRINSIC
low complexity region	385	412	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136519

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	A	5: 31,487,517	C205S	probably benign	Het
Aasdh	A	T	5: 76,888,804	S297T	probably benign	Het
Acsm1	T	C	7: 119,658,288		probably benign	Het
Ankar	T	A	1: 72,698,649	N125Y	probably damaging	Het
Chd1l	T	C	3: 97,581,149	D517G	probably damaging	Het
Cpxm1	G	A	2: 130,396,122	R136W	probably damaging	Het
Cyhr1	T	C	15: 76,648,969	R190G	probably damaging	Het
Dnah10	A	T	5: 124,753,326	E761D	probably benign	Het
Fam186a	T	A	15: 99,943,389	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,539,386		probably benign	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Frmd6	T	C	12: 70,887,889		probably benign	Het
Gmpr2	T	C	14: 55,676,743		probably benign	Het
Hck	G	A	2: 153,138,295	G348D	probably damaging	Het
Ifnab	T	A	4: 88,691,100	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,387,215	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,928,847	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,405,917	T134A	probably benign	Het
Mmp9	T	A	2: 164,953,342	V628E	probably damaging	Het
Msi2	A	T	11: 88,716,580	V67D	probably damaging	Het
Ncapd3	T	A	9: 27,057,940	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316	V73A	probably damaging	Het
Nphp4	T	A	4: 152,502,926	D245E	probably damaging	Het
Olfr1014	G	A	2: 85,777,004	C140Y	probably benign	Het
Olfr114	T	C	17: 37,589,764	I196M	probably benign	Het
Olfr57	T	G	10: 79,035,042	M82R	probably damaging	Het
Pkd1l1	T	C	11: 8,941,038		probably benign	Het
Plcxd1	A	C	5: 110,102,230	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Scube2	A	G	7: 109,804,614	Y890H	probably damaging	Het
Slco6c1	T	A	1: 97,128,203		probably null	Het
Tnfaip2	T	G	12: 111,449,322	F485V	probably benign	Het
Tpd52	T	C	3: 8,963,933	D17G	probably damaging	Het
Ube4b	T	C	4: 149,335,149	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,593,237	Q556*	probably null	Het

Other mutations in Cir1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Cir1	APN	2	73287724	splice site	probably null
IGL02969:Cir1	APN	2	73303776	missense	probably null	1.00
IGL03019:Cir1	APN	2	73286348	missense	unknown
magellanic	UTSW	2	73306413	splice site	probably benign
penguin	UTSW	2	73312479	missense	probably damaging	1.00
R0532:Cir1	UTSW	2	73310455	critical splice donor site	probably null
R1052:Cir1	UTSW	2	73287643	missense	probably damaging	1.00
R1752:Cir1	UTSW	2	73310538	missense	probably damaging	1.00
R2140:Cir1	UTSW	2	73312437	missense	probably damaging	1.00
R4740:Cir1	UTSW	2	73312523	unclassified	probably benign
R4954:Cir1	UTSW	2	73310504	missense	probably benign	0.40
R5096:Cir1	UTSW	2	73303761	missense	probably damaging	1.00
R5134:Cir1	UTSW	2	73284503	nonsense	probably null
R5821:Cir1	UTSW	2	73312460	missense	probably damaging	1.00
R7006:Cir1	UTSW	2	73310490	missense	probably damaging	0.99
R7183:Cir1	UTSW	2	73286386	missense	probably damaging	1.00
R7706:Cir1	UTSW	2	73312479	missense	probably damaging	1.00
R7724:Cir1	UTSW	2	73306890	missense	possibly damaging	0.85
R7921:Cir1	UTSW	2	73310455	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCGCACTGTTTGTAGGAGGTAAGTC -3'
(R):5'- TACTGGCAGAGGTACATTCAGCCC -3'

Sequencing Primer
(F):5'- TGGTCAGTGAACCTTAACAAGC -3'
(R):5'- TGGAAAGTCTACTCATTGCCAG -3'

Posted On

2014-02-11