Mutagenetix > Incidental Mutation

Incidental Mutation 'R9541:Ciart'

719863

Institutional Source

Beutler Lab

Gene Symbol

Ciart

Ensembl Gene

ENSMUSG00000038550

Gene Name

circadian associated repressor of transcription

Synonyms

Gm129, LOC229599

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R9541 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95785815-95789563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95788527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 104 (C104F)

Ref Sequence

ENSEMBL: ENSMUSP00000049308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036360] [ENSMUST00000036418] [ENSMUST00000090476] [ENSMUST00000159739] [ENSMUST00000159863] [ENSMUST00000161866] [ENSMUST00000161867] [ENSMUST00000161994] [ENSMUST00000171519]

AlphaFold

Q3TQ03

Predicted Effect

probably benign
Transcript: ENSMUST00000036360

SMART Domains

Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	145	3.6e-64	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036418
AA Change: C104F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049308
Gene: ENSMUSG00000038550
AA Change: C104F

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC
low complexity region	300	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090476

SMART Domains

Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.8e-65	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159739
AA Change: C104F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124943
Gene: ENSMUSG00000038550
AA Change: C104F

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC
Pfam:DUF4664	85	361	3.3e-170	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159863

Predicted Effect

probably benign
Transcript: ENSMUST00000161866

SMART Domains

Protein: ENSMUSP00000135072
Gene: ENSMUSG00000038550

Domain	Start	End	E-Value	Type
low complexity region	166	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161867
AA Change: C11F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161994
AA Change: C104F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124125
Gene: ENSMUSG00000038550
AA Change: C104F

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171519

SMART Domains

Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.5e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Null mutants have slightly prolonged expression of circadian genes [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,801,079 (GRCm39)	I450V	probably benign	Het
Adam21	T	C	12: 81,607,724 (GRCm39)	T13A	probably benign	Het
Adamts4	C	A	1: 171,084,695 (GRCm39)	P644H	probably damaging	Het
Ak9	C	T	10: 41,243,173 (GRCm39)	A689V		Het
Ankhd1	G	A	18: 36,757,697 (GRCm39)	S209N		Het
Anks1b	A	T	10: 90,412,947 (GRCm39)	T32S	probably benign	Het
Atp13a4	G	T	16: 29,241,544 (GRCm39)	T708K		Het
B4gat1	C	T	19: 5,089,896 (GRCm39)	P298S	probably damaging	Het
Btbd9	A	G	17: 30,439,438 (GRCm39)	L583P	possibly damaging	Het
Coq5	T	C	5: 115,417,901 (GRCm39)	S44P	probably benign	Het
Dennd5b	A	G	6: 148,899,872 (GRCm39)	V1175A	probably benign	Het
Filip1	T	A	9: 79,727,135 (GRCm39)	K495*	probably null	Het
Fscn2	G	A	11: 120,258,771 (GRCm39)	V439M	probably damaging	Het
Gcn1	A	G	5: 115,754,416 (GRCm39)	I2339V	probably benign	Het
Gmppa	T	A	1: 75,417,094 (GRCm39)	S176R	probably damaging	Het
Gpatch3	G	A	4: 133,305,595 (GRCm39)	E277K	probably benign	Het
Hcn4	A	G	9: 58,767,685 (GRCm39)	D1082G	probably damaging	Het
Hdgfl2	T	A	17: 56,405,976 (GRCm39)	D487E	unknown	Het
Ifna14	A	T	4: 88,490,010 (GRCm39)	M9K	probably null	Het
Igkv4-81	A	G	6: 68,967,925 (GRCm39)	Y59H		Het
Il2rb	T	A	15: 78,372,393 (GRCm39)	N108I	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm5d	T	G	Y: 910,801 (GRCm39)	C304W	probably damaging	Het
Khnyn	T	C	14: 56,124,109 (GRCm39)	I121T	possibly damaging	Het
Lmcd1	A	T	6: 112,306,824 (GRCm39)	H332L	probably damaging	Het
Lrp1b	T	C	2: 41,234,600 (GRCm39)	D1117G		Het
Med25	A	G	7: 44,541,267 (GRCm39)	V82A	possibly damaging	Het
Mindy2	G	A	9: 70,512,508 (GRCm39)	R581C	possibly damaging	Het
Mindy3	T	C	2: 12,391,449 (GRCm39)	T257A	probably damaging	Het
Myo1e	A	T	9: 70,204,628 (GRCm39)	Y76F	probably damaging	Het
Npas2	A	T	1: 39,377,194 (GRCm39)	I519F	possibly damaging	Het
Or2h2c	C	T	17: 37,422,824 (GRCm39)	D17N	probably benign	Het
Or4f52	T	A	2: 111,061,275 (GRCm39)	T288S	probably damaging	Het
Or5ak25	T	A	2: 85,269,025 (GRCm39)	H159L	possibly damaging	Het
Otx1	A	G	11: 21,947,052 (GRCm39)	F86L	probably damaging	Het
Pcm1	A	G	8: 41,780,616 (GRCm39)	D1856G	probably benign	Het
Pcsk7	G	A	9: 45,820,768 (GRCm39)	E67K	probably benign	Het
Pkd2	A	G	5: 104,607,927 (GRCm39)	Y142C	probably damaging	Het
Ptpre	A	G	7: 135,266,740 (GRCm39)	D236G	probably benign	Het
Rasd2	T	C	8: 75,945,200 (GRCm39)	C10R	probably benign	Het
Rd3	C	A	1: 191,717,294 (GRCm39)	R140S	possibly damaging	Het
Rusc1	T	G	3: 88,998,922 (GRCm39)	T287P	possibly damaging	Het
Slc22a7	T	C	17: 46,749,084 (GRCm39)	S78G	probably damaging	Het
Sltm	A	T	9: 70,481,057 (GRCm39)	H303L	unknown	Het
Syne4	G	A	7: 30,016,343 (GRCm39)	V228I	probably benign	Het
Timm22	T	A	11: 76,300,641 (GRCm39)	C138S	possibly damaging	Het
Trib2	T	A	12: 15,866,827 (GRCm39)	I15L	unknown	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyro3	T	C	2: 119,642,589 (GRCm39)	V591A	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,209 (GRCm39)	V643A	probably benign	Het
Zfp281	G	T	1: 136,555,303 (GRCm39)	Q760H	probably damaging	Het

Other mutations in Ciart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02943:Ciart	APN	3	95,786,314 (GRCm39)	missense	possibly damaging	0.55
PIT4453001:Ciart	UTSW	3	95,787,788 (GRCm39)	missense	probably damaging	1.00
R2044:Ciart	UTSW	3	95,786,013 (GRCm39)	missense	probably benign	0.00
R2079:Ciart	UTSW	3	95,786,350 (GRCm39)	missense	probably damaging	1.00
R5831:Ciart	UTSW	3	95,786,214 (GRCm39)	missense	probably damaging	0.96
R6251:Ciart	UTSW	3	95,788,323 (GRCm39)	unclassified	probably benign
R7024:Ciart	UTSW	3	95,786,392 (GRCm39)	missense	probably benign	0.30
R7801:Ciart	UTSW	3	95,788,656 (GRCm39)	missense	probably damaging	1.00
R7961:Ciart	UTSW	3	95,788,629 (GRCm39)	missense	possibly damaging	0.58
R7993:Ciart	UTSW	3	95,786,206 (GRCm39)	nonsense	probably null
R8009:Ciart	UTSW	3	95,788,629 (GRCm39)	missense	possibly damaging	0.58
R8098:Ciart	UTSW	3	95,788,656 (GRCm39)	missense	probably damaging	1.00
R8099:Ciart	UTSW	3	95,788,656 (GRCm39)	missense	probably damaging	1.00
R8100:Ciart	UTSW	3	95,788,656 (GRCm39)	missense	probably damaging	1.00
R9452:Ciart	UTSW	3	95,788,527 (GRCm39)	missense	probably benign	0.02
R9676:Ciart	UTSW	3	95,786,214 (GRCm39)	missense	probably benign	0.41
Z1177:Ciart	UTSW	3	95,786,335 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCGTATGAACCCTTGGAGTTC -3'
(R):5'- TCCCTTCTGATAACGAGAGGG -3'

Sequencing Primer
(F):5'- GTATGAACCCTTGGAGTTCTTTACAC -3'
(R):5'- ATGAGCTCAGGCCAGACACTG -3'

Posted On

2022-07-18