Incidental Mutation 'R0057:Jarid2'
| ID |
16428 |
| 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 |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
44882950-45075119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45038332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 77
(H77Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044608]
[ENSMUST00000172977]
[ENSMUST00000173003]
[ENSMUST00000173246]
[ENSMUST00000173367]
[ENSMUST00000173704]
[ENSMUST00000173906]
|
| AlphaFold |
Q62315 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044608
AA Change: H216Y
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: H216Y
| 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: ENSMUST00000172977
|
| SMART Domains |
Protein: ENSMUSP00000134276
Gene: ENSMUSG00000038518
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JmjC
|
8 |
61 |
4e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173003
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173246
AA Change: H216Y
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: H216Y
| 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: ENSMUST00000173367
AA Change: H77Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: H77Y
| 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 |
possibly damaging
Transcript: ENSMUST00000173704
AA Change: H216Y
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: H216Y
| 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 |
possibly damaging
Transcript: ENSMUST00000173906
AA Change: H178Y
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: H178Y
| 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: ENSMUST00000174557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174683
|
| Meta Mutation Damage Score |
0.0851 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.8%
- 10x: 82.7%
- 20x: 75.7%
|
| Validation Efficiency |
89% (65/73) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,832,385 (GRCm39) |
F1309L |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,669,567 (GRCm39) |
A163T |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,556,156 (GRCm39) |
F392L |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,268,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,338,529 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,963 (GRCm39) |
S1003R |
probably benign |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,285,136 (GRCm39) |
I505F |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Emc8 |
A |
G |
8: 121,385,822 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
A |
G |
2: 150,600,748 (GRCm39) |
K152R |
probably null |
Het |
| Eps8l2 |
C |
T |
7: 140,922,884 (GRCm39) |
T49I |
probably benign |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gm12251 |
C |
A |
11: 58,283,867 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,803,881 (GRCm39) |
I92N |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,451,753 (GRCm39) |
R115S |
probably benign |
Het |
| Kcnk6 |
A |
T |
7: 28,925,088 (GRCm39) |
L176Q |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,217 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
A |
C |
17: 23,962,202 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,288,432 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,862,262 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mfsd4b4 |
T |
A |
10: 39,891,097 (GRCm38) |
|
probably benign |
Het |
| Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,389,578 (GRCm39) |
N3411D |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,892,611 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,268 (GRCm39) |
N79S |
probably damaging |
Het |
| Npsr1 |
A |
T |
9: 24,211,723 (GRCm39) |
I84F |
probably damaging |
Het |
| Or52h1 |
G |
T |
7: 103,829,536 (GRCm39) |
H26Q |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Or6z5 |
T |
C |
7: 6,477,679 (GRCm39) |
L190P |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rasal3 |
A |
G |
17: 32,610,357 (GRCm39) |
S977P |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Snrnp200 |
C |
G |
2: 127,079,827 (GRCm39) |
L1899V |
probably damaging |
Het |
| Snrnp48 |
T |
A |
13: 38,400,356 (GRCm39) |
C154* |
probably null |
Het |
| Tdrd6 |
G |
A |
17: 43,928,052 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,575,975 (GRCm39) |
|
probably benign |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,076,378 (GRCm39) |
R184Q |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
|
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 |
2013-01-20 |
Incidental Mutation