Incidental Mutation 'IGL02539:Gm28042'
ID |
297629 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm28042
|
Ensembl Gene |
ENSMUSG00000033852 |
Gene Name |
predicted gene, 28042 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.531)
|
Stock # |
IGL02539
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119865702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 313
(D313G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000126150]
[ENSMUST00000129679]
[ENSMUST00000129685]
[ENSMUST00000156805]
[ENSMUST00000162393]
[ENSMUST00000135365]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044675
|
SMART Domains |
Protein: ENSMUSP00000041220 Gene: ENSMUSG00000098789
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
JmjC
|
128 |
307 |
4.31e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125805
|
SMART Domains |
Protein: ENSMUSP00000122869 Gene: ENSMUSG00000033852
Domain | Start | End | E-Value | Type |
Pfam:Cupin_8
|
2 |
62 |
2.8e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126150
AA Change: D90G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118458 Gene: ENSMUSG00000098488 AA Change: D90G
Domain | Start | End | E-Value | Type |
C2
|
19 |
119 |
1.79e-17 |
SMART |
PLAc
|
233 |
789 |
1.99e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129679
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129685
AA Change: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115498 Gene: ENSMUSG00000033852 AA Change: D313G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
C2
|
242 |
342 |
1.79e-17 |
SMART |
PLAc
|
456 |
1012 |
1.99e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134380
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156805
AA Change: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117535 Gene: ENSMUSG00000033852 AA Change: D313G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
C2
|
242 |
342 |
1.79e-17 |
SMART |
PLAc
|
456 |
892 |
8.56e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162393
|
SMART Domains |
Protein: ENSMUSP00000125329 Gene: ENSMUSG00000033852
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
JmjC
|
128 |
242 |
4.42e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135365
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This locus represents naturally-occurring readthrough transcription between the neighboring Jmjd7 (jumonji domain containing 7) and Pla2g4b (phospholipase A2, group IVB (cytosolic)) genes on chromosome 2. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Oct 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
probably damaging |
Het |
|
Other mutations in Gm28042 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00754:Gm28042
|
APN |
2 |
119,860,837 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01148:Gm28042
|
APN |
2 |
119,869,519 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02005:Gm28042
|
APN |
2 |
119,865,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02237:Gm28042
|
APN |
2 |
119,870,380 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02747:Gm28042
|
APN |
2 |
119,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02825:Gm28042
|
APN |
2 |
119,862,125 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02998:Gm28042
|
APN |
2 |
119,870,635 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03057:Gm28042
|
APN |
2 |
119,862,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03084:Gm28042
|
APN |
2 |
119,870,986 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03160:Gm28042
|
APN |
2 |
119,866,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4520001:Gm28042
|
UTSW |
2 |
119,870,148 (GRCm39) |
nonsense |
probably null |
|
R0147:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
R0270:Gm28042
|
UTSW |
2 |
119,872,073 (GRCm39) |
missense |
probably benign |
0.06 |
R0315:Gm28042
|
UTSW |
2 |
119,869,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R1421:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
R1589:Gm28042
|
UTSW |
2 |
119,871,887 (GRCm39) |
missense |
probably benign |
0.05 |
R1599:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
R1656:Gm28042
|
UTSW |
2 |
119,869,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:Gm28042
|
UTSW |
2 |
119,866,872 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1969:Gm28042
|
UTSW |
2 |
119,872,096 (GRCm39) |
makesense |
probably null |
|
R2164:Gm28042
|
UTSW |
2 |
119,867,229 (GRCm39) |
missense |
probably benign |
0.01 |
R2275:Gm28042
|
UTSW |
2 |
119,867,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R3976:Gm28042
|
UTSW |
2 |
119,867,237 (GRCm39) |
missense |
probably benign |
0.11 |
R4483:Gm28042
|
UTSW |
2 |
119,866,321 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4614:Gm28042
|
UTSW |
2 |
119,871,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R4802:Gm28042
|
UTSW |
2 |
119,872,535 (GRCm39) |
utr 3 prime |
probably benign |
|
R4976:Gm28042
|
UTSW |
2 |
119,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Gm28042
|
UTSW |
2 |
119,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5177:Gm28042
|
UTSW |
2 |
119,872,082 (GRCm39) |
splice site |
probably null |
|
R5340:Gm28042
|
UTSW |
2 |
119,871,929 (GRCm39) |
missense |
probably benign |
|
R5861:Gm28042
|
UTSW |
2 |
119,865,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R6641:Gm28042
|
UTSW |
2 |
119,870,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Gm28042
|
UTSW |
2 |
119,870,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R7488:Gm28042
|
UTSW |
2 |
119,870,438 (GRCm39) |
missense |
probably benign |
0.00 |
R7699:Gm28042
|
UTSW |
2 |
119,870,197 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7700:Gm28042
|
UTSW |
2 |
119,870,197 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8432:Gm28042
|
UTSW |
2 |
119,869,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R9120:Gm28042
|
UTSW |
2 |
119,869,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R9265:Gm28042
|
UTSW |
2 |
119,871,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R9803:Gm28042
|
UTSW |
2 |
119,868,984 (GRCm39) |
missense |
possibly damaging |
0.88 |
X0019:Gm28042
|
UTSW |
2 |
119,870,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |