Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Arid3c'

39306

Institutional Source

Beutler Lab

Gene Symbol

Arid3c

Ensembl Gene

ENSMUSG00000066224

Gene Name

AT-rich interaction domain 3C

Synonyms

OTTMUSG00000006683

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R0445 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

41723836-41731142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41725172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 292 (P292T)

Ref Sequence

ENSEMBL: ENSMUSP00000127678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030158] [ENSMUST00000084698] [ENSMUST00000108041] [ENSMUST00000150809] [ENSMUST00000159930] [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 benign
Transcript: ENSMUST00000084698
AA Change: P292T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: P292T

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
AA Change: P292T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224
AA Change: P292T

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 benign
Transcript: ENSMUST00000159930

SMART Domains

Protein: ENSMUSP00000124563
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

Predicted Effect

probably benign
Transcript: ENSMUST00000171251
AA Change: P292T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: P292T

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably damaging	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
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
R2270: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'- TATCAAGGGACCTGCCTGTACCAC -3'
(R):5'- GGAGAGACAACCTGGCTTATCTGC -3'

Sequencing Primer
(F):5'- TCCAGCATTCAGCATGTGAAG -3'
(R):5'- ATGCAAACACGGGTTGGT -3'

Posted On

2013-05-23