Incidental Mutation 'IGL02005:Gm28042'
| ID |
183148 |
| 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 # |
IGL02005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119865115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 247
(V247I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000126150
AA Change: V24I
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: V24I
| 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 |
possibly damaging
Transcript: ENSMUST00000129685
AA Change: V247I
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: V247I
| 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 |
possibly damaging
Transcript: ENSMUST00000156805
AA Change: V247I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: V247I
| 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: ENSMUST00000139862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153571
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,965,927 (GRCm39) |
D141G |
probably damaging |
Het |
| Ankhd1 |
T |
G |
18: 36,781,479 (GRCm39) |
L2177R |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,382,045 (GRCm39) |
D1136V |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,730,896 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,701 (GRCm39) |
T65A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,243,638 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,381,546 (GRCm39) |
T664M |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,867,576 (GRCm39) |
H469Y |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,616,957 (GRCm39) |
D110G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,105,779 (GRCm39) |
E1786K |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,045 (GRCm39) |
K321E |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,007 (GRCm39) |
D383G |
probably damaging |
Het |
| Crcp |
T |
G |
5: 130,071,074 (GRCm39) |
C58G |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,921,975 (GRCm39) |
Y807C |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,132 (GRCm39) |
|
probably benign |
Het |
| Glce |
A |
T |
9: 61,967,859 (GRCm39) |
L431I |
probably damaging |
Het |
| Glp1r |
C |
A |
17: 31,143,585 (GRCm39) |
T207K |
probably benign |
Het |
| Gvin-ps5 |
G |
T |
7: 105,928,627 (GRCm39) |
F423L |
unknown |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,056 (GRCm39) |
H76L |
probably benign |
Het |
| Hoxb13 |
G |
A |
11: 96,085,435 (GRCm39) |
G56D |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,842 (GRCm39) |
E27G |
possibly damaging |
Het |
| Kars1 |
A |
T |
8: 112,726,736 (GRCm39) |
L321* |
probably null |
Het |
| Klhl12 |
A |
T |
1: 134,391,652 (GRCm39) |
T95S |
possibly damaging |
Het |
| Klhl14 |
A |
T |
18: 21,757,668 (GRCm39) |
Y347* |
probably null |
Het |
| Kmt5b |
A |
G |
19: 3,836,538 (GRCm39) |
H25R |
possibly damaging |
Het |
| Krtap12-1 |
T |
A |
10: 77,556,823 (GRCm39) |
V122D |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,077 (GRCm39) |
D322G |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,920 (GRCm39) |
V422D |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,152,368 (GRCm39) |
M1051R |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,937,728 (GRCm39) |
Y242C |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,803 (GRCm39) |
I107L |
possibly damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,810 (GRCm39) |
D93G |
probably benign |
Het |
| Pgap1 |
C |
A |
1: 54,590,214 (GRCm39) |
A75S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,804,978 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Prcp |
T |
C |
7: 92,577,032 (GRCm39) |
S319P |
probably benign |
Het |
| Rasal2 |
G |
A |
1: 156,984,568 (GRCm39) |
Q1035* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,608 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,236,145 (GRCm39) |
I544T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,069,056 (GRCm39) |
V2910E |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,655,104 (GRCm39) |
L1278H |
probably damaging |
Het |
| Tti2 |
G |
T |
8: 31,645,858 (GRCm39) |
G391C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,778,363 (GRCm39) |
M1295I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,554,313 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,338 (GRCm39) |
V247M |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,734,455 (GRCm39) |
Y125H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,225 (GRCm39) |
R105H |
probably benign |
Het |
| Zc3h11a |
A |
G |
1: 133,549,880 (GRCm39) |
S699P |
probably benign |
Het |
| Zkscan14 |
C |
T |
5: 145,132,419 (GRCm39) |
V371I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,779,125 (GRCm39) |
Y1862F |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation