Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Cir1'

679301

Institutional Source

Beutler Lab

Gene Symbol

Cir1

Ensembl Gene

ENSMUSG00000041777

Gene Name

corepressor interacting with RBPJ, 1

Synonyms

CIR, 2810021A19Rik, 1700023B02Rik

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73113445-73142922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73118053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 164 (S164L)

Ref Sequence

ENSEMBL: ENSMUSP00000049834 (fasta)

Gene Model

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

AlphaFold

Q9DA19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058615
AA Change: S164L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049834
Gene: ENSMUSG00000041777
AA Change: S164L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly damaging	Het

Other mutations in Cir1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Cir1	APN	2	73,118,068 (GRCm39)	splice site	probably null
IGL02969:Cir1	APN	2	73,134,120 (GRCm39)	missense	probably null	1.00
IGL03019:Cir1	APN	2	73,116,692 (GRCm39)	missense	unknown
magellanic	UTSW	2	73,136,757 (GRCm39)	splice site	probably benign
penguin	UTSW	2	73,142,823 (GRCm39)	missense	probably damaging	1.00
R0532:Cir1	UTSW	2	73,140,799 (GRCm39)	critical splice donor site	probably null
R1052:Cir1	UTSW	2	73,117,987 (GRCm39)	missense	probably damaging	1.00
R1366:Cir1	UTSW	2	73,136,757 (GRCm39)	splice site	probably benign
R1752:Cir1	UTSW	2	73,140,882 (GRCm39)	missense	probably damaging	1.00
R2140:Cir1	UTSW	2	73,142,781 (GRCm39)	missense	probably damaging	1.00
R4740:Cir1	UTSW	2	73,142,867 (GRCm39)	unclassified	probably benign
R4954:Cir1	UTSW	2	73,140,848 (GRCm39)	missense	probably benign	0.40
R5096:Cir1	UTSW	2	73,134,105 (GRCm39)	missense	probably damaging	1.00
R5134:Cir1	UTSW	2	73,114,847 (GRCm39)	nonsense	probably null
R5821:Cir1	UTSW	2	73,142,804 (GRCm39)	missense	probably damaging	1.00
R7006:Cir1	UTSW	2	73,140,834 (GRCm39)	missense	probably damaging	0.99
R7183:Cir1	UTSW	2	73,116,730 (GRCm39)	missense	probably damaging	1.00
R7706:Cir1	UTSW	2	73,142,823 (GRCm39)	missense	probably damaging	1.00
R7724:Cir1	UTSW	2	73,137,234 (GRCm39)	missense	possibly damaging	0.85
R7921:Cir1	UTSW	2	73,140,799 (GRCm39)	critical splice donor site	probably null
R9514:Cir1	UTSW	2	73,142,781 (GRCm39)	missense	probably damaging	1.00
R9746:Cir1	UTSW	2	73,134,152 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTTCAGTTAGACGTTTTATCCAC -3'
(R):5'- CTCCAGACTGCTGTTTTAGAAAATC -3'

Sequencing Primer
(F):5'- GTTTTATCCACATAAACCCAAAGGAG -3'
(R):5'- TCATATCTGATTATTTGCTCAGCAG -3'

Posted On

2021-08-02