Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02865:Jarid2'

362302

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02865

Quality Score

Status

Chromosome

Chromosomal Location

44882950-45075119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45064036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 855 (L855P)

Ref Sequence

ENSEMBL: ENSMUSP00000134630 (fasta)

Gene Model

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

AlphaFold

Q62315

Predicted Effect

probably damaging
Transcript: ENSMUST00000044608
AA Change: L893P

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

SMART Domains

Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: L893P

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: L893P

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

SMART Domains

Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: L893P

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: ENSMUST00000173704
AA Change: L893P

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

SMART Domains

Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: L893P

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 damaging
Transcript: ENSMUST00000173906
AA Change: L855P

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

SMART Domains

Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: L855P

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

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	C	A	6: 56,713,858 (GRCm39)	T372N	probably damaging	Het
Ccni	C	T	5: 93,331,195 (GRCm39)	V135I	probably benign	Het
Cfap20dc	T	C	14: 8,517,940 (GRCm38)	E293G	probably benign	Het
Dnah17	A	G	11: 117,964,374 (GRCm39)	F2481S	probably damaging	Het
Dnajc10	A	G	2: 80,161,647 (GRCm39)	D295G	probably benign	Het
Homer2	A	G	7: 81,260,080 (GRCm39)	F265S	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,516 (GRCm39)	V476A	probably benign	Het
Kif26a	T	A	12: 112,144,049 (GRCm39)	C1434*	probably null	Het
Lpo	A	G	11: 87,697,803 (GRCm39)	V668A	possibly damaging	Het
Med12l	T	C	3: 59,201,713 (GRCm39)	Y1973H	probably damaging	Het
Mep1b	C	A	18: 21,226,441 (GRCm39)	H434Q	probably benign	Het
Ngly1	T	A	14: 16,290,939 (GRCm38)		probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Sema6d	T	A	2: 124,505,993 (GRCm39)	N600K	probably damaging	Het
Slc1a1	C	A	19: 28,882,738 (GRCm39)	A334E	probably damaging	Het
Son	A	G	16: 91,448,640 (GRCm39)	E67G	probably damaging	Het
Tpmt	T	C	13: 47,178,878 (GRCm39)	Y229C	probably benign	Het
Vmn2r23	A	T	6: 123,718,578 (GRCm39)	I644F	probably damaging	Het
Whrn	T	C	4: 63,333,729 (GRCm39)	M906V	probably benign	Het
Zfp938	A	T	10: 82,062,026 (GRCm39)	F198Y	probably benign	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
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
R3111: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

Posted On

2015-12-18