Mutagenetix > Incidental Mutation

Incidental Mutation 'R2245:Jarid2'

240639

Institutional Source

Beutler Lab

Gene Symbol

Jarid2

Ensembl Gene

ENSMUSG00000038518

Gene Name

jumonji and AT-rich interaction domain containing 2

Synonyms

jumonji, Jmj

MMRRC Submission

040245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2245 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (31/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	G	7: 82,099,308 (GRCm39)	Q154R	probably damaging	Het
Alpk2	A	G	18: 65,438,234 (GRCm39)	L1520P	probably benign	Het
Brd1	A	G	15: 88,574,063 (GRCm39)		probably null	Het
Ccdc158	A	G	5: 92,757,811 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,754,766 (GRCm39)	V1950F	probably benign	Het
Csnk1d	A	G	11: 120,863,229 (GRCm39)	I237T	probably damaging	Het
Ddah2	T	C	17: 35,280,561 (GRCm39)	L234P	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ephb1	A	C	9: 101,873,973 (GRCm39)		probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myadml2	A	T	11: 120,538,656 (GRCm39)	F60I	probably damaging	Het
Myo15a	T	C	11: 60,399,925 (GRCm39)	V2893A	probably damaging	Het
Ntn1	A	G	11: 68,276,120 (GRCm39)	V276A	probably benign	Het
Or11h6	T	A	14: 50,880,062 (GRCm39)	I102N	probably damaging	Het
Or4c111	A	T	2: 88,843,493 (GRCm39)	I305K	probably benign	Het
Or7a39	A	G	10: 78,715,765 (GRCm39)	Y253C	probably damaging	Het
Otof	T	C	5: 30,527,551 (GRCm39)	Y1962C	probably damaging	Het
Pcf11	T	C	7: 92,315,080 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,626,009 (GRCm39)	S1676P	unknown	Het
Prpf40b	A	G	15: 99,203,047 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,576,345 (GRCm39)	D305G	probably benign	Het
Rdh16f2	A	G	10: 127,712,145 (GRCm39)	K201E	probably damaging	Het
Slc19a3	T	C	1: 82,991,691 (GRCm39)	Y439C	possibly damaging	Het
Son	G	T	16: 91,444,848 (GRCm39)		probably null	Het
Specc1	T	C	11: 62,022,713 (GRCm39)	L710P	probably damaging	Het
Tex15	A	G	8: 34,061,524 (GRCm39)	D592G	possibly damaging	Het
Tmem237	A	T	1: 59,147,863 (GRCm39)	D209E	probably damaging	Het
Vmn2r106	T	C	17: 20,488,423 (GRCm39)	T659A	probably benign	Het
Vmn2r71	T	A	7: 85,273,388 (GRCm39)	I734N	probably damaging	Het
Wdr7	A	T	18: 64,057,980 (GRCm39)	I1270F	possibly 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
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

Predicted Primers

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

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

Posted On

2014-10-15