Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Arid3c'

242378

Institutional Source

Beutler Lab

Gene Symbol

Arid3c

Ensembl Gene

ENSMUSG00000066224

Gene Name

AT-rich interaction domain 3C

Synonyms

OTTMUSG00000006683

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R2270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41723836-41731142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41724744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 364 (I364F)

Ref Sequence

ENSEMBL: ENSMUSP00000127678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030158] [ENSMUST00000084698] [ENSMUST00000108041] [ENSMUST00000150809] [ENSMUST00000171251] [ENSMUST00000171641]

AlphaFold

A6PWV5

Predicted Effect

probably benign
Transcript: ENSMUST00000030158

SMART Domains

Protein: ENSMUSP00000030158
Gene: ENSMUSG00000028447

Domain	Start	End	E-Value	Type
Pfam:Dynactin_p22	6	170	2.8e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084698
AA Change: I364F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: I364F

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	18	32	N/A	INTRINSIC
low complexity region	41	71	N/A	INTRINSIC
ARID	107	198	5.47e-35	SMART
BRIGHT	111	203	3.7e-39	SMART
low complexity region	235	257	N/A	INTRINSIC
Blast:ARID	283	327	2e-12	BLAST
low complexity region	387	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108041

SMART Domains

Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147120

Predicted Effect

probably benign
Transcript: ENSMUST00000150809

SMART Domains

Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	18	32	N/A	INTRINSIC
low complexity region	41	71	N/A	INTRINSIC
ARID	107	198	5.47e-35	SMART
BRIGHT	111	203	3.7e-39	SMART
low complexity region	235	257	N/A	INTRINSIC
Blast:ARID	283	327	2e-12	BLAST
low complexity region	357	379	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171251
AA Change: I364F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: I364F

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	18	32	N/A	INTRINSIC
low complexity region	41	71	N/A	INTRINSIC
ARID	107	198	5.47e-35	SMART
BRIGHT	111	203	3.7e-39	SMART
low complexity region	235	257	N/A	INTRINSIC
Blast:ARID	283	327	2e-12	BLAST
low complexity region	387	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171641

SMART Domains

Protein: ENSMUSP00000130988
Gene: ENSMUSG00000028447

Domain	Start	End	E-Value	Type
Pfam:Dynactin_p22	1	149	1.4e-63	PFAM

Meta Mutation Damage Score

0.4420

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Olfm4	C	A	14: 80,249,315 (GRCm39)	T144K	probably damaging	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Phf12	G	T	11: 77,875,001 (GRCm39)	A76S	possibly damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het
Zpbp	A	T	11: 11,368,272 (GRCm39)	M133K	probably benign	Het

Other mutations in Arid3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02297:Arid3c	APN	4	41,730,021 (GRCm39)	missense	possibly damaging	0.72
R0445:Arid3c	UTSW	4	41,725,172 (GRCm39)	missense	probably benign	0.00
R0675:Arid3c	UTSW	4	41,725,958 (GRCm39)	missense	probably damaging	1.00
R1617:Arid3c	UTSW	4	41,725,103 (GRCm39)	missense	probably damaging	1.00
R1711:Arid3c	UTSW	4	41,725,947 (GRCm39)	missense	probably damaging	0.99
R1929:Arid3c	UTSW	4	41,724,744 (GRCm39)	missense	probably damaging	1.00
R2271:Arid3c	UTSW	4	41,724,744 (GRCm39)	missense	probably damaging	1.00
R2272:Arid3c	UTSW	4	41,724,744 (GRCm39)	missense	probably damaging	1.00
R2867:Arid3c	UTSW	4	41,725,958 (GRCm39)	missense	probably damaging	1.00
R2867:Arid3c	UTSW	4	41,725,958 (GRCm39)	missense	probably damaging	1.00
R4818:Arid3c	UTSW	4	41,730,072 (GRCm39)	missense	possibly damaging	0.72
R5622:Arid3c	UTSW	4	41,729,959 (GRCm39)	missense	probably benign	0.02
R6289:Arid3c	UTSW	4	41,724,285 (GRCm39)	unclassified	probably benign
R6995:Arid3c	UTSW	4	41,725,087 (GRCm39)	missense	probably damaging	1.00
R7339:Arid3c	UTSW	4	41,729,883 (GRCm39)	critical splice donor site	probably null
R8244:Arid3c	UTSW	4	41,729,997 (GRCm39)	missense	possibly damaging	0.61
R9009:Arid3c	UTSW	4	41,729,925 (GRCm39)	missense	probably benign	0.00
R9324:Arid3c	UTSW	4	41,730,138 (GRCm39)	missense	possibly damaging	0.86
R9573:Arid3c	UTSW	4	41,726,003 (GRCm39)	missense	probably benign	0.42
R9772:Arid3c	UTSW	4	41,724,723 (GRCm39)	missense	probably damaging	1.00
Z1177:Arid3c	UTSW	4	41,730,177 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GCCTTGTAGACAAACTCTTGAATCC -3'
(R):5'- CACATGCTGAATGCTGGAGG -3'

Sequencing Primer
(F):5'- CCTGAACGTCATGCTCAT -3'
(R):5'- TGGTACAGGCAGGTCCCTTG -3'

Posted On

2014-10-16