Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Arid5a'

189852

Institutional Source

Beutler Lab

Gene Symbol

Arid5a

Ensembl Gene

ENSMUSG00000037447

Gene Name

AT-rich interaction domain 5A

Synonyms

D430024K22Rik, Mrf1

MMRRC Submission

039736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36346814-36363110 bp(+) (GRCm39)

Type of Mutation

splice site (2133 bp from exon)

DNA Base Change (assembly)

T to A at 36358656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119953 (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: L411Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: L411Q

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 damaging
Transcript: ENSMUST00000115029
AA Change: L223Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: L223Q

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: L476Q

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

SMART Domains

Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: L476Q

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: L382Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: L382Q

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

noncoding transcript
Transcript: ENSMUST00000124280

Predicted Effect

probably null
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: L324Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: L324Q

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

noncoding transcript
Transcript: ENSMUST00000140218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147123

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.2529

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,431 (GRCm39)	Y401*	probably null	Het
4932415M13Rik	C	A	17: 54,032,065 (GRCm39)		noncoding transcript	Het
Abtb3	A	G	10: 85,223,248 (GRCm39)	D19G	unknown	Het
Acoxl	T	A	2: 127,820,692 (GRCm39)	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,584,924 (GRCm39)	C915R	probably damaging	Het
Adgra3	C	T	5: 50,164,117 (GRCm39)	M287I	probably benign	Het
Afg1l	T	G	10: 42,276,395 (GRCm39)	D250A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Amfr	T	C	8: 94,700,871 (GRCm39)	T530A	probably benign	Het
Ank2	C	T	3: 126,723,415 (GRCm39)	V971M	probably damaging	Het
App	A	G	16: 84,762,656 (GRCm39)	S656P	probably damaging	Het
Asic5	T	A	3: 81,907,029 (GRCm39)	V60D	possibly damaging	Het
Atm	G	T	9: 53,412,000 (GRCm39)	H1019N	probably benign	Het
Cep250	A	G	2: 155,807,466 (GRCm39)	K277R	probably benign	Het
Chrna7	C	T	7: 62,749,255 (GRCm39)	R409H	probably damaging	Het
Chrng	A	T	1: 87,138,628 (GRCm39)	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,087,739 (GRCm39)	S199G	probably benign	Het
Clstn2	A	T	9: 97,340,290 (GRCm39)	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,391,181 (GRCm39)		probably benign	Het
Cyp2c69	T	A	19: 39,864,810 (GRCm39)	I223F	probably benign	Het
Dennd1b	A	T	1: 139,097,492 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,917,575 (GRCm39)	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,213,463 (GRCm39)	M506V	probably benign	Het
Ecsit	A	G	9: 21,986,107 (GRCm39)	V173A	probably damaging	Het
Fam13b	T	C	18: 34,584,492 (GRCm39)		probably null	Het
Fgl2	T	A	5: 21,577,730 (GRCm39)	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,767,038 (GRCm39)	R503H	probably damaging	Het
Gramd1a	C	T	7: 30,838,959 (GRCm39)	V247M	possibly damaging	Het
Grip2	A	T	6: 91,754,379 (GRCm39)	I632N	probably damaging	Het
Hspg2	T	C	4: 137,286,462 (GRCm39)	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,691,390 (GRCm39)	Y660C	probably benign	Het
Isg15	T	C	4: 156,284,265 (GRCm39)	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,730,870 (GRCm39)	D388E	probably benign	Het
Jhy	T	C	9: 40,856,133 (GRCm39)	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kif21a	A	G	15: 90,833,250 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,142,667 (GRCm39)	Y604N	probably damaging	Het
Lrp3	T	G	7: 34,912,586 (GRCm39)	S34R	possibly damaging	Het
Lrrc37	C	T	11: 103,431,700 (GRCm39)	V1372I	probably benign	Het
Lyn	T	C	4: 3,738,867 (GRCm39)		probably null	Het
Mroh8	C	T	2: 157,113,896 (GRCm39)	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,098,093 (GRCm39)	F977L	probably damaging	Het
Nol8	C	T	13: 49,820,933 (GRCm39)	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,515,845 (GRCm39)	N169K	probably damaging	Het
Oplah	A	G	15: 76,180,867 (GRCm39)	Y1279H	probably benign	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or4c101	T	A	2: 88,390,599 (GRCm39)	M262K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,458 (GRCm39)	N129S	probably benign	Het
Pcyt2	G	T	11: 120,503,894 (GRCm39)	P185T	probably benign	Het
Pdlim2	A	G	14: 70,411,784 (GRCm39)		probably null	Het
Pgs1	T	C	11: 117,905,554 (GRCm39)		probably benign	Het
Qprt	A	G	7: 126,707,343 (GRCm39)	V251A	probably benign	Het
Rasal2	A	C	1: 156,985,170 (GRCm39)	L834R	probably damaging	Het
Reg1	T	C	6: 78,405,432 (GRCm39)	C161R	probably damaging	Het
Rp1	T	A	1: 4,415,392 (GRCm39)	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,155,346 (GRCm39)	D360G	possibly damaging	Het
Sart3	C	A	5: 113,890,280 (GRCm39)	V482F	probably benign	Het
Scarf2	A	G	16: 17,620,713 (GRCm39)	E127G	probably damaging	Het
Serinc5	T	C	13: 92,825,305 (GRCm39)	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,821,087 (GRCm39)	R57L	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sgca	A	T	11: 94,860,217 (GRCm39)	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,154,000 (GRCm39)	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 82,920,869 (GRCm39)		noncoding transcript	Het
Spam1	A	T	6: 24,796,256 (GRCm39)	D69V	probably damaging	Het
Tanc1	A	G	2: 59,673,365 (GRCm39)	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,123,416 (GRCm39)	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tlx1	A	G	19: 45,144,443 (GRCm39)	D55G	possibly damaging	Het
Tram2	G	T	1: 21,074,458 (GRCm39)	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,744 (GRCm39)	Y325C	probably damaging	Het
Ubac2	T	A	14: 122,142,582 (GRCm39)	S27T	probably benign	Het
Utrn	G	A	10: 12,603,473 (GRCm39)		probably benign	Het
Vnn3	A	T	10: 23,741,828 (GRCm39)	M378L	probably benign	Het
Vps18	T	A	2: 119,119,538 (GRCm39)	D6E	probably benign	Het
Xkr5	T	A	8: 18,989,134 (GRCm39)	I253F	probably benign	Het
Yeats4	A	T	10: 117,051,628 (GRCm39)	C210S	probably benign	Het
Zdhhc20	A	G	14: 58,076,545 (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
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
R8739:Arid5a	UTSW	1	36,358,677 (GRCm39)	missense	probably benign	0.02
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'- GCGGCTCTTGTCAAGCTTTTACTG -3'
(R):5'- TCTTGCCACCATGAGCGAATCC -3'

Sequencing Primer
(F):5'- ATGGCATCATGTCACCACTGG -3'
(R):5'- TCCAAGCCGCGCTTACTG -3'

Posted On

2014-05-14