Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Arid5a'

710918

Institutional Source

Beutler Lab

Gene Symbol

Arid5a

Ensembl Gene

ENSMUSG00000037447

Gene Name

AT-rich interaction domain 5A

Synonyms

D430024K22Rik, Mrf1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9398 (G1)

Quality Score

214.009

Status

Not validated

Chromosome

Chromosomal Location

36346814-36363110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36358073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 217 (T217A)

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: T217A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: T217A

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: T29A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: T29A

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 benign
Transcript: ENSMUST00000115031
AA Change: T282A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: T282A

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: T188A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: T188A

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
AA Change: T187A

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

SMART Domains

Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: T187A

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: T130A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: T130A

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: 99.8%
20x: 99.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	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
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
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'- TTTCTGAAGATCAGCTGACACCTG -3'
(R):5'- GCGCCCCTTTGCAGTAAAAG -3'

Sequencing Primer
(F):5'- GAACCCTACGTTCCGATTGTGG -3'
(R):5'- CCCTTTGCAGTAAAAGCTTGAC -3'

Posted On

2022-04-18