Mutagenetix > Incidental Mutation

Incidental Mutation 'R3111:Jarid2'

263793

Institutional Source

Beutler Lab

Gene Symbol

Jarid2

Ensembl Gene

ENSMUSG00000038518

Gene Name

jumonji and AT-rich interaction domain containing 2

Synonyms

jumonji, Jmj

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3111 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44882950-45075119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45059752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 661 (N661K)

Ref Sequence

ENSEMBL: ENSMUSP00000134675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]

AlphaFold

Q62315

Predicted Effect

probably damaging
Transcript: ENSMUST00000044608
AA Change: N661K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: N661K

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1191	2.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173246
AA Change: N661K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: N661K

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1191	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173367

SMART Domains

Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
low complexity region	126	146	N/A	INTRINSIC
low complexity region	195	214	N/A	INTRINSIC
JmjN	415	456	1.77e-20	SMART
PDB:2RQ5\|A	476	507	3e-14	PDB
Blast:ARID	477	507	2e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000173704
AA Change: N661K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: N661K

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1190	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173906
AA Change: N623K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: N623K

Domain	Start	End	E-Value	Type
low complexity region	48	61	N/A	INTRINSIC
low complexity region	143	157	N/A	INTRINSIC
low complexity region	227	247	N/A	INTRINSIC
low complexity region	296	315	N/A	INTRINSIC
JmjN	516	557	1.77e-20	SMART
ARID	578	669	4.96e-24	SMART
BRIGHT	582	674	1.7e-29	SMART
low complexity region	753	762	N/A	INTRINSIC
JmjC	844	1008	1.04e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174683

Meta Mutation Damage Score

0.3303

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Disp1	A	T	1: 182,869,087 (GRCm39)	M1111K	probably damaging	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gad1-ps	A	G	10: 99,280,383 (GRCm39)		noncoding transcript	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Mfap3	T	C	11: 57,420,406 (GRCm39)	V129A	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Myh4	T	A	11: 67,137,276 (GRCm39)	L499Q	possibly damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nmnat3	T	A	9: 98,281,533 (GRCm39)	I45N	probably damaging	Het
Or1e32	T	C	11: 73,705,012 (GRCm39)	R299G	probably benign	Het
Osbpl9	T	C	4: 108,940,290 (GRCm39)	I232V	probably benign	Het
Pcdha12	A	T	18: 37,155,243 (GRCm39)	H654L	probably damaging	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Pds5b	T	C	5: 150,643,372 (GRCm39)	S65P	probably damaging	Het
Pgm1	C	T	4: 99,813,222 (GRCm39)	T11I	probably benign	Het
Phf24	G	A	4: 42,938,316 (GRCm39)	V226I	probably benign	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,629 (GRCm39)	D1713G	probably damaging	Het
Rbp3	G	T	14: 33,676,069 (GRCm39)	V6F	probably benign	Het
Sac3d1	T	C	19: 6,168,387 (GRCm39)	K77R	probably benign	Het
Slc1a6	T	A	10: 78,624,915 (GRCm39)	S107T	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Tgfbi	T	C	13: 56,757,547 (GRCm39)	Y30H	probably damaging	Het
Tmem217	A	T	17: 29,745,532 (GRCm39)	V66D	probably damaging	Het
Tnn	C	A	1: 159,934,625 (GRCm39)	D1263Y	probably damaging	Het
Ylpm1	T	C	12: 85,076,145 (GRCm39)	F499L	probably damaging	Het

Other mutations in Jarid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Jarid2	APN	13	45,038,311 (GRCm39)	missense	probably damaging	1.00
IGL02217:Jarid2	APN	13	45,066,677 (GRCm39)	missense	probably damaging	1.00
IGL02378:Jarid2	APN	13	45,067,801 (GRCm39)	missense	probably damaging	0.98
IGL02604:Jarid2	APN	13	45,027,877 (GRCm39)	missense	probably damaging	1.00
IGL02865:Jarid2	APN	13	45,064,036 (GRCm39)	missense	probably damaging	1.00
IGL02926:Jarid2	APN	13	45,056,405 (GRCm39)	missense	probably benign	0.03
R0057:Jarid2	UTSW	13	45,038,332 (GRCm39)	missense	probably damaging	0.96
R0426:Jarid2	UTSW	13	44,994,358 (GRCm39)	critical splice donor site	probably null
R0545:Jarid2	UTSW	13	45,056,307 (GRCm39)	missense	probably benign	0.10
R0562:Jarid2	UTSW	13	45,055,835 (GRCm39)	missense	probably damaging	0.99
R1192:Jarid2	UTSW	13	45,060,021 (GRCm39)	missense	probably damaging	1.00
R1241:Jarid2	UTSW	13	45,038,368 (GRCm39)	splice site	probably benign
R1254:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1464:Jarid2	UTSW	13	45,001,857 (GRCm39)	missense	probably damaging	0.97
R1464:Jarid2	UTSW	13	45,001,857 (GRCm39)	missense	probably damaging	0.97
R1552:Jarid2	UTSW	13	45,064,675 (GRCm39)	missense	probably damaging	1.00
R1728:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1729:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1730:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1739:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1783:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1785:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1844:Jarid2	UTSW	13	45,056,219 (GRCm39)	missense	possibly damaging	0.71
R1896:Jarid2	UTSW	13	45,038,358 (GRCm39)	critical splice donor site	probably null
R1965:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1966:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R1995:Jarid2	UTSW	13	45,027,917 (GRCm39)	missense	probably damaging	1.00
R2120:Jarid2	UTSW	13	45,059,812 (GRCm39)	missense	probably benign	0.17
R2142:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R2172:Jarid2	UTSW	13	45,056,015 (GRCm39)	missense	probably damaging	0.99
R2242:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R2245:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R3110:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R3112:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R3115:Jarid2	UTSW	13	45,049,942 (GRCm39)	missense	probably damaging	1.00
R3620:Jarid2	UTSW	13	45,059,752 (GRCm39)	missense	probably damaging	1.00
R3704:Jarid2	UTSW	13	45,055,831 (GRCm39)	missense	probably benign
R3802:Jarid2	UTSW	13	45,056,307 (GRCm39)	missense	probably benign	0.10
R3804:Jarid2	UTSW	13	45,056,307 (GRCm39)	missense	probably benign	0.10
R4126:Jarid2	UTSW	13	45,055,732 (GRCm39)	missense	probably damaging	1.00
R4127:Jarid2	UTSW	13	45,055,732 (GRCm39)	missense	probably damaging	1.00
R4128:Jarid2	UTSW	13	45,055,732 (GRCm39)	missense	probably damaging	1.00
R4153:Jarid2	UTSW	13	45,063,902 (GRCm39)	missense	probably damaging	1.00
R4844:Jarid2	UTSW	13	45,067,248 (GRCm39)	missense	probably damaging	0.96
R5044:Jarid2	UTSW	13	45,060,041 (GRCm39)	missense	probably damaging	1.00
R5329:Jarid2	UTSW	13	45,059,747 (GRCm39)	missense	possibly damaging	0.49
R5632:Jarid2	UTSW	13	45,049,766 (GRCm39)	missense	probably damaging	0.97
R5820:Jarid2	UTSW	13	45,055,777 (GRCm39)	missense	possibly damaging	0.96
R6267:Jarid2	UTSW	13	45,056,539 (GRCm39)	missense	possibly damaging	0.93
R6296:Jarid2	UTSW	13	45,056,539 (GRCm39)	missense	possibly damaging	0.93
R6479:Jarid2	UTSW	13	45,001,765 (GRCm39)	missense	probably benign	0.22
R6619:Jarid2	UTSW	13	45,027,872 (GRCm39)	missense	probably damaging	1.00
R6633:Jarid2	UTSW	13	45,038,353 (GRCm39)	missense	probably damaging	0.97
R6970:Jarid2	UTSW	13	45,056,461 (GRCm39)	missense	probably damaging	1.00
R7020:Jarid2	UTSW	13	45,038,300 (GRCm39)	missense	probably damaging	1.00
R7155:Jarid2	UTSW	13	45,055,938 (GRCm39)	missense	probably damaging	1.00
R7223:Jarid2	UTSW	13	45,049,798 (GRCm39)	missense	possibly damaging	0.89
R7265:Jarid2	UTSW	13	45,055,748 (GRCm39)	missense	probably benign	0.29
R8321:Jarid2	UTSW	13	45,001,862 (GRCm39)	missense	probably damaging	0.96
R8872:Jarid2	UTSW	13	45,055,984 (GRCm39)	missense	possibly damaging	0.88
R9064:Jarid2	UTSW	13	44,994,326 (GRCm39)	missense
R9065:Jarid2	UTSW	13	44,994,326 (GRCm39)	missense
R9067:Jarid2	UTSW	13	44,994,326 (GRCm39)	missense
R9153:Jarid2	UTSW	13	45,064,678 (GRCm39)	missense	probably damaging	1.00
R9163:Jarid2	UTSW	13	45,064,727 (GRCm39)	missense	possibly damaging	0.92
R9468:Jarid2	UTSW	13	45,073,306 (GRCm39)	missense	probably damaging	1.00
R9541:Jarid2	UTSW	13	45,068,253 (GRCm39)	missense	possibly damaging	0.93
R9558:Jarid2	UTSW	13	45,068,253 (GRCm39)	missense	possibly damaging	0.93
R9559:Jarid2	UTSW	13	45,068,253 (GRCm39)	missense	possibly damaging	0.93
R9762:Jarid2	UTSW	13	45,068,253 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGCAGTGCTCAAAACTGTTTG -3'
(R):5'- AACTTGTGGTGGTCGCTCTC -3'

Sequencing Primer
(F):5'- TGTACATACAAGCTGGCTGC -3'
(R):5'- CGTGTGCCCCTCTAATGG -3'

Posted On

2015-02-05