Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Arid5a'

555987

Institutional Source

Beutler Lab

Gene Symbol

Arid5a

Ensembl Gene

ENSMUSG00000037447

Gene Name

AT rich interactive domain 5A (MRF1-like)

Synonyms

D430024K22Rik, Mrf1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

PIT4504001 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

36307733-36324029 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36317625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 116 (I116T)

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 damaging
Transcript: ENSMUST00000097778
AA Change: I116T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: I116T

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

SMART Domains

Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447

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

probably damaging
Transcript: ENSMUST00000115031
AA Change: I181T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: I181T

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 damaging
Transcript: ENSMUST00000115032
AA Change: I87T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: I87T

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
AA Change: S47P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447
AA Change: S47P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126413
AA Change: I86T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: I86T

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

SMART Domains

Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447

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: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly damaging	Het

Other mutations in Arid5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Arid5a	APN	1	36319433	missense	possibly damaging	0.54
IGL02000:Arid5a	APN	1	36319497	missense	probably damaging	1.00
IGL02322:Arid5a	APN	1	36319416	missense	probably benign	0.09
R0063:Arid5a	UTSW	1	36318564	missense	probably damaging	1.00
R0063:Arid5a	UTSW	1	36318564	missense	probably damaging	1.00
R1556:Arid5a	UTSW	1	36320164	nonsense	probably null
R1703:Arid5a	UTSW	1	36319575	splice site	probably null
R2424:Arid5a	UTSW	1	36318501	missense	probably damaging	1.00
R4583:Arid5a	UTSW	1	36317664	critical splice donor site	probably null
R5725:Arid5a	UTSW	1	36319130	nonsense	probably null
R6056:Arid5a	UTSW	1	36319392	missense	probably benign	0.01
R7023:Arid5a	UTSW	1	36317550	unclassified	probably benign
R7996:Arid5a	UTSW	1	36317445	missense	unknown
R8739:Arid5a	UTSW	1	36319596	missense	probably benign	0.02
R9072:Arid5a	UTSW	1	36319545	missense	probably benign	0.01
R9073:Arid5a	UTSW	1	36319545	missense	probably benign	0.01
R9398:Arid5a	UTSW	1	36318992	missense	probably benign	0.08
R9583:Arid5a	UTSW	1	36317658	missense	possibly damaging	0.82
R9679:Arid5a	UTSW	1	36318567	missense	possibly damaging	0.89
X0020:Arid5a	UTSW	1	36319575	splice site	probably null
Z1176:Arid5a	UTSW	1	36319355	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTAAAGGTGACCCTGGATGC -3'
(R):5'- ACCTGCTTAGGGATGCAAAG -3'

Sequencing Primer
(F):5'- ATGCCGCCAGCCTGTAG -3'
(R):5'- GTGCACAGTCCCCCATC -3'

Posted On

2019-06-07