Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Arid5a'

663203

Institutional Source

Beutler Lab

Gene Symbol

Arid5a

Ensembl Gene

ENSMUSG00000037447

Gene Name

AT-rich interaction domain 5A

Synonyms

D430024K22Rik, Mrf1

MMRRC Submission

068586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36346814-36363110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36358677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 418 (N418S)

Ref Sequence

ENSEMBL: ENSMUSP00000095385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097778] [ENSMUST00000115029] [ENSMUST00000115031] [ENSMUST00000115032] [ENSMUST00000116629] [ENSMUST00000126413] [ENSMUST00000137906] [ENSMUST00000142319]

AlphaFold

Q3U108

Predicted Effect

probably benign
Transcript: ENSMUST00000097778
AA Change: N418S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: N418S

Domain	Start	End	E-Value	Type
ARID	76	167	4.69e-34	SMART
BRIGHT	80	172	8.63e-31	SMART
low complexity region	453	467	N/A	INTRINSIC
low complexity region	512	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115029
AA Change: N230S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: N230S

Domain	Start	End	E-Value	Type
Blast:ARID	1	85	6e-24	BLAST
low complexity region	265	279	N/A	INTRINSIC
low complexity region	324	334	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115031
AA Change: N483S

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: N483S

Domain	Start	End	E-Value	Type
ARID	46	232	1.82e-31	SMART
Blast:ARID	281	338	6e-11	BLAST
low complexity region	518	532	N/A	INTRINSIC
low complexity region	577	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115032
AA Change: N389S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: N389S

Domain	Start	End	E-Value	Type
ARID	47	138	4.69e-34	SMART
BRIGHT	51	143	8.63e-31	SMART
low complexity region	424	438	N/A	INTRINSIC
low complexity region	483	493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116629

SMART Domains

Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
Blast:ARID	22	55	8e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000126413

SMART Domains

Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
ARID	46	137	4.69e-34	SMART
BRIGHT	50	142	8.63e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137906
AA Change: N331S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: N331S

Domain	Start	End	E-Value	Type
SCOP:d1ig6a_	41	98	7e-19	SMART
PDB:2OEH\|A	42	98	2e-26	PDB
Blast:ARID	42	186	4e-50	BLAST
low complexity region	366	380	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142319

SMART Domains

Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
SCOP:d1kkxa_	49	81	3e-9	SMART
Blast:ARID	56	121	2e-41	BLAST
PDB:2OEH\|A	56	121	2e-9	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced serum interleukin-6 and tumor necrosis factor levels following LPS treatment, and decreased susceptibility to experimental autoimmune encephalomyelitis along with decreased T-helper 17 cell number and increased IFN-gamma producing T cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		probably null	Het

Other mutations in Arid5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Arid5a	APN	1	36,358,514 (GRCm39)	missense	possibly damaging	0.54
IGL02000:Arid5a	APN	1	36,358,578 (GRCm39)	missense	probably damaging	1.00
IGL02322:Arid5a	APN	1	36,358,497 (GRCm39)	missense	probably benign	0.09
PIT4504001:Arid5a	UTSW	1	36,356,706 (GRCm39)	missense	probably damaging	1.00
R0063:Arid5a	UTSW	1	36,357,645 (GRCm39)	missense	probably damaging	1.00
R0063:Arid5a	UTSW	1	36,357,645 (GRCm39)	missense	probably damaging	1.00
R1556:Arid5a	UTSW	1	36,359,245 (GRCm39)	nonsense	probably null
R1703:Arid5a	UTSW	1	36,358,656 (GRCm39)	splice site	probably null
R2424:Arid5a	UTSW	1	36,357,582 (GRCm39)	missense	probably damaging	1.00
R4583:Arid5a	UTSW	1	36,356,745 (GRCm39)	critical splice donor site	probably null
R5725:Arid5a	UTSW	1	36,358,211 (GRCm39)	nonsense	probably null
R6056:Arid5a	UTSW	1	36,358,473 (GRCm39)	missense	probably benign	0.01
R7023:Arid5a	UTSW	1	36,356,631 (GRCm39)	unclassified	probably benign
R7996:Arid5a	UTSW	1	36,356,526 (GRCm39)	missense	unknown
R9072:Arid5a	UTSW	1	36,358,626 (GRCm39)	missense	probably benign	0.01
R9073:Arid5a	UTSW	1	36,358,626 (GRCm39)	missense	probably benign	0.01
R9398:Arid5a	UTSW	1	36,358,073 (GRCm39)	missense	probably benign	0.08
R9583:Arid5a	UTSW	1	36,356,739 (GRCm39)	missense	possibly damaging	0.82
R9679:Arid5a	UTSW	1	36,357,648 (GRCm39)	missense	possibly damaging	0.89
X0020:Arid5a	UTSW	1	36,358,656 (GRCm39)	splice site	probably null
Z1176:Arid5a	UTSW	1	36,358,436 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTGAGAACTCTGAACACC -3'
(R):5'- ACCATGAGCGAATCCCTCTTC -3'

Sequencing Primer
(F):5'- AAGGATTGCAGGCCCCTG -3'
(R):5'- ATGAGCGAATCCCTCTTCTTCCAAG -3'

Posted On

2021-03-08