Mutagenetix > Incidental Mutation

Incidental Mutation 'R8009:Ciart'

616787

Institutional Source

Beutler Lab

Gene Symbol

Ciart

Ensembl Gene

ENSMUSG00000038550

Gene Name

circadian associated repressor of transcription

Synonyms

Gm129, LOC229599

MMRRC Submission

046049-MU

Accession Numbers

Essential gene?

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

Stock #

R8009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95785815-95789563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95788629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 70 (V70A)

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: V70A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049308
Gene: ENSMUSG00000038550
AA Change: V70A

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: V70A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124943
Gene: ENSMUSG00000038550
AA Change: V70A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161994
AA Change: V70A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124125
Gene: ENSMUSG00000038550
AA Change: V70A

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Baz1a	A	T	12: 54,941,816 (GRCm39)	Y1466*	probably null	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Esyt1	T	C	10: 128,347,354 (GRCm39)	E1057G	probably benign	Het
Fsip2	A	G	2: 82,818,793 (GRCm39)	E4842G	possibly damaging	Het
Gadd45b	G	A	10: 80,766,984 (GRCm39)	V90I	probably benign	Het
Gfi1	T	A	5: 107,871,667 (GRCm39)	H79L	probably damaging	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Itsn2	G	A	12: 4,714,553 (GRCm39)	A950T	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Lrch3	A	T	16: 32,826,083 (GRCm39)	D720V	possibly damaging	Het
Lrrk1	T	C	7: 65,915,222 (GRCm39)	D1622G	possibly damaging	Het
Meioc	G	C	11: 102,567,569 (GRCm39)	A788P	probably damaging	Het
Mmp1a	A	T	9: 7,467,236 (GRCm39)	T271S	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or14j5	A	T	17: 38,161,693 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	G	2: 86,563,848 (GRCm39)	L36P	probably damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Phactr3	A	C	2: 177,974,737 (GRCm39)	R523S	probably damaging	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Prkcg	A	G	7: 3,362,708 (GRCm39)	D294G	probably benign	Het
Psg28	T	A	7: 18,156,922 (GRCm39)	I438L	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Rps6ka5	T	C	12: 100,544,048 (GRCm39)	E350G	probably damaging	Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,691,636 (GRCm39)	D313G	probably damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Stxbp5	A	G	10: 9,692,046 (GRCm39)	V366A	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tlr3	G	A	8: 45,853,819 (GRCm39)	T167M	not run	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tmprss15	C	T	16: 78,887,751 (GRCm39)	V19M	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Uso1	A	T	5: 92,314,439 (GRCm39)	E115D	probably benign	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	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
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
R9541:Ciart	UTSW	3	95,788,527 (GRCm39)	missense	possibly damaging	0.92
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'- CAATTAGGTGTTTGCCACTGC -3'
(R):5'- CTGCTCCTGGACCTATGGATTC -3'

Sequencing Primer
(F):5'- GCCACTGCACTATCTTTTCTG -3'
(R):5'- TGGATTCTCCATCTAGTGTTTCTTC -3'

Posted On

2020-01-23