Incidental Mutation 'IGL02825:Gm28042'
| ID |
361156 |
| 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 # |
IGL02825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119862125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 232
(M232K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000066058]
[ENSMUST00000126150]
[ENSMUST00000129679]
[ENSMUST00000129685]
[ENSMUST00000156805]
[ENSMUST00000162393]
[ENSMUST00000135365]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044675
AA Change: M232K
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
AA Change: M232K
| 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: ENSMUST00000066058
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
80 |
121 |
8.75e-5 |
SMART |
|
WD40
|
124 |
165 |
3.64e-2 |
SMART |
|
WD40
|
168 |
205 |
4.62e-1 |
SMART |
|
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
|
WD40
|
264 |
301 |
2.65e1 |
SMART |
|
WD40
|
332 |
367 |
1.99e0 |
SMART |
|
WD40
|
374 |
422 |
1.29e-2 |
SMART |
|
WD40
|
463 |
502 |
3.9e-2 |
SMART |
|
WD40
|
505 |
547 |
2.77e-1 |
SMART |
|
WD40
|
551 |
592 |
2.67e-1 |
SMART |
|
WD40
|
599 |
639 |
2.21e1 |
SMART |
|
WD40
|
642 |
684 |
5.75e-1 |
SMART |
|
WD40
|
687 |
726 |
6.04e-8 |
SMART |
|
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1054 |
N/A |
INTRINSIC |
|
coiled coil region
|
1400 |
1427 |
N/A |
INTRINSIC |
|
low complexity region
|
1460 |
1477 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000126150
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
| 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: M232K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: M232K
| 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 |
probably damaging
Transcript: ENSMUST00000156805
AA Change: M232K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: M232K
| 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: ENSMUST00000136042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143794
|
| 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 |
|---|
| Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
| Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
| Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,502,592 (GRCm39) |
V575D |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,585 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrpl19 |
G |
T |
6: 81,942,796 (GRCm39) |
T38K |
probably benign |
Het |
| Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
| Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,083,509 (GRCm39) |
K587R |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
| Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
| Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
| Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
probably benign |
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 |
|
IGL02539:Gm28042
|
APN |
2 |
119,865,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Gm28042
|
APN |
2 |
119,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation