Incidental Mutation 'IGL01941:Jmjd6'
| ID |
181183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jmjd6
|
| Ensembl Gene |
ENSMUSG00000056962 |
| Gene Name |
jumonji domain containing 6 |
| Synonyms |
5730436I23Rik, Ptdsr, PSR, PtdSerR |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116728258-116734275 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 116732184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047616]
[ENSMUST00000047616]
[ENSMUST00000106370]
[ENSMUST00000140349]
[ENSMUST00000140513]
[ENSMUST00000142495]
|
| AlphaFold |
Q9ERI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047616
|
| SMART Domains |
Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
305 |
6.09e-48 |
SMART |
|
low complexity region
|
340 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000047616
|
| SMART Domains |
Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
305 |
6.09e-48 |
SMART |
|
low complexity region
|
340 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106370
|
| SMART Domains |
Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_16
|
48 |
203 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124831
|
| SMART Domains |
Protein: ENSMUSP00000122867
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JmjC
|
1 |
81 |
6.3e-20 |
PFAM |
|
low complexity region
|
150 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140349
|
| SMART Domains |
Protein: ENSMUSP00000120850
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
93 |
257 |
6.09e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140513
|
| SMART Domains |
Protein: ENSMUSP00000115086
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
98 |
262 |
6.09e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142495
|
| SMART Domains |
Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
270 |
4.17e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140869
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein functions in differentiation of multiple tissues during development, and in anti-inflammatory cytokine signaling. It was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that this protein does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show perinatal lethality. Abnormalities are observed in the nervous. respiratory, cardiovascular, digestive, renal, hematopoietic, and immune systems. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,094,802 (GRCm39) |
L123Q |
probably benign |
Het |
| Abca2 |
C |
T |
2: 25,333,107 (GRCm39) |
S1602F |
probably benign |
Het |
| Abcc9 |
C |
A |
6: 142,551,630 (GRCm39) |
C1191F |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,171,462 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,539,677 (GRCm39) |
G202V |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,486,083 (GRCm39) |
N57D |
possibly damaging |
Het |
| Asic1 |
A |
T |
15: 99,596,982 (GRCm39) |
H548L |
possibly damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,294,724 (GRCm39) |
I233T |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,769 (GRCm39) |
Q307K |
probably benign |
Het |
| Cep120 |
T |
C |
18: 53,856,220 (GRCm39) |
D399G |
probably benign |
Het |
| Cnn2 |
G |
A |
10: 79,828,388 (GRCm39) |
V122M |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,852,281 (GRCm39) |
S472P |
probably damaging |
Het |
| Dock5 |
A |
C |
14: 68,049,681 (GRCm39) |
I701S |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,347,184 (GRCm39) |
E570G |
probably benign |
Het |
| Eln |
G |
A |
5: 134,747,024 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,831 (GRCm39) |
V81A |
probably benign |
Het |
| Fbxw21 |
T |
G |
9: 108,977,224 (GRCm39) |
I162L |
probably benign |
Het |
| Fhl2 |
G |
A |
1: 43,170,832 (GRCm39) |
Q161* |
probably null |
Het |
| Gabrg2 |
A |
G |
11: 41,862,548 (GRCm39) |
Y179H |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grik5 |
A |
T |
7: 24,764,607 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,408 (GRCm39) |
K156* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,490,895 (GRCm39) |
Y699C |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,335,811 (GRCm39) |
V202G |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,030 (GRCm39) |
R584G |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,834,185 (GRCm39) |
I1416T |
possibly damaging |
Het |
| Matn1 |
T |
C |
4: 130,679,572 (GRCm39) |
|
probably benign |
Het |
| Mavs |
T |
C |
2: 131,088,525 (GRCm39) |
V443A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,204,624 (GRCm39) |
S1798R |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,812 (GRCm39) |
C139* |
probably null |
Het |
| Otud7b |
G |
T |
3: 96,062,776 (GRCm39) |
G672C |
probably benign |
Het |
| Palld |
T |
A |
8: 61,988,734 (GRCm39) |
T572S |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,570,902 (GRCm39) |
V379E |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,059 (GRCm39) |
V623A |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,698,083 (GRCm39) |
|
probably benign |
Het |
| Rxra |
T |
C |
2: 27,644,253 (GRCm39) |
I315T |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,416,338 (GRCm39) |
A55V |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,404 (GRCm39) |
N123D |
possibly damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,301 (GRCm39) |
S66G |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,829 (GRCm39) |
M82T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,472,116 (GRCm39) |
E113G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,994 (GRCm39) |
K3062E |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,510,656 (GRCm39) |
S310P |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,785,826 (GRCm39) |
L167S |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,869 (GRCm39) |
C169* |
probably null |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,407 (GRCm39) |
F334I |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,820 (GRCm39) |
I710N |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr26 |
A |
G |
1: 181,038,635 (GRCm39) |
|
probably benign |
Het |
| Wnt7a |
A |
G |
6: 91,371,645 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp940 |
C |
T |
7: 29,546,295 (GRCm39) |
V34M |
probably damaging |
Het |
|
| Other mutations in Jmjd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Jmjd6
|
APN |
11 |
116,733,202 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01877:Jmjd6
|
APN |
11 |
116,733,519 (GRCm39) |
missense |
probably benign |
|
|
IGL02316:Jmjd6
|
APN |
11 |
116,733,928 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03396:Jmjd6
|
APN |
11 |
116,732,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jumanji
|
UTSW |
11 |
116,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Jmjd6
|
UTSW |
11 |
116,731,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Jmjd6
|
UTSW |
11 |
116,733,266 (GRCm39) |
missense |
probably benign |
|
|
R2259:Jmjd6
|
UTSW |
11 |
116,732,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Jmjd6
|
UTSW |
11 |
116,731,991 (GRCm39) |
missense |
probably benign |
|
|
R4284:Jmjd6
|
UTSW |
11 |
116,733,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Jmjd6
|
UTSW |
11 |
116,731,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Jmjd6
|
UTSW |
11 |
116,730,682 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Jmjd6
|
UTSW |
11 |
116,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Jmjd6
|
UTSW |
11 |
116,733,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Jmjd6
|
UTSW |
11 |
116,734,055 (GRCm39) |
start gained |
probably benign |
|
|
R9370:Jmjd6
|
UTSW |
11 |
116,729,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9790:Jmjd6
|
UTSW |
11 |
116,733,438 (GRCm39) |
missense |
probably benign |
|
|
R9791:Jmjd6
|
UTSW |
11 |
116,733,438 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation