Incidental Mutation 'IGL03084:Gm28042'
| ID |
418013 |
| 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: 0.530)
|
| Stock # |
IGL03084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119870986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 833
(Q833R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126150]
[ENSMUST00000129685]
[ENSMUST00000156805]
[ENSMUST00000162393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126150
AA Change: Q610R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: Q610R
| 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: ENSMUST00000129685
AA Change: Q833R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: Q833R
| 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: ENSMUST00000130018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153571
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156805
AA Change: Q833R
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: Q833R
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000156159
|
| SMART Domains |
Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
60 |
160 |
2.54e-6 |
SMART |
|
SPEC
|
166 |
266 |
1.32e-13 |
SMART |
|
SPEC
|
272 |
372 |
4.41e-15 |
SMART |
|
SPEC
|
378 |
477 |
1.56e-15 |
SMART |
|
SPEC
|
483 |
583 |
1.11e-11 |
SMART |
|
SPEC
|
589 |
689 |
8.47e-26 |
SMART |
|
SPEC
|
695 |
795 |
5.56e-12 |
SMART |
|
SPEC
|
801 |
902 |
7.01e-9 |
SMART |
|
SPEC
|
908 |
1032 |
4.44e-1 |
SMART |
|
SPEC
|
1038 |
1138 |
3.73e-13 |
SMART |
|
Pfam:Spectrin
|
1141 |
1206 |
2.2e-6 |
PFAM |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
T |
8: 111,768,261 (GRCm39) |
V211L |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,860,285 (GRCm39) |
D1285E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,499,944 (GRCm39) |
T147A |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,101 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,880 (GRCm39) |
L9F |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,990,560 (GRCm39) |
H1704R |
probably benign |
Het |
| Dmkn |
T |
G |
7: 30,470,481 (GRCm39) |
N367K |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,604,534 (GRCm39) |
D152Y |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,812 (GRCm39) |
S250G |
possibly damaging |
Het |
| Gnpat |
A |
C |
8: 125,605,638 (GRCm39) |
Y336S |
probably damaging |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,736 (GRCm39) |
|
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,485,036 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,355 (GRCm39) |
N31S |
possibly damaging |
Het |
| Larp1 |
T |
A |
11: 57,947,921 (GRCm39) |
L939Q |
probably damaging |
Het |
| Lrrc69 |
G |
A |
4: 14,708,631 (GRCm39) |
P238S |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,413,605 (GRCm39) |
I207T |
possibly damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,538,641 (GRCm39) |
G152E |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,691 (GRCm39) |
T1097A |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,777 (GRCm39) |
|
probably null |
Het |
| Nab2 |
C |
T |
10: 127,500,346 (GRCm39) |
V249M |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,819,000 (GRCm39) |
D498V |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,353,886 (GRCm39) |
T404A |
probably damaging |
Het |
| Or51i1 |
A |
G |
7: 103,670,838 (GRCm39) |
V229A |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,569 (GRCm39) |
C241* |
probably null |
Het |
| Or5c1 |
T |
C |
2: 37,222,413 (GRCm39) |
I218T |
probably damaging |
Het |
| Or8c9 |
T |
G |
9: 38,241,513 (GRCm39) |
I210S |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,319,573 (GRCm39) |
I1104V |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,989,651 (GRCm39) |
V1187A |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,413 (GRCm39) |
W346* |
probably null |
Het |
| Rpl4 |
A |
G |
9: 64,085,599 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,915,053 (GRCm39) |
I1206F |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,865,776 (GRCm39) |
S61P |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,638,094 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
A |
G |
11: 75,281,433 (GRCm39) |
H302R |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Stx8 |
C |
T |
11: 67,911,782 (GRCm39) |
Q167* |
probably null |
Het |
| Sycp2 |
C |
A |
2: 178,033,584 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,626,742 (GRCm39) |
V13088D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,243 (GRCm39) |
M39L |
probably benign |
Het |
| Utp6 |
A |
T |
11: 79,853,042 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,008 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r11 |
T |
A |
5: 109,207,209 (GRCm39) |
D37V |
probably benign |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,292 (GRCm39) |
F16V |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,592,354 (GRCm39) |
M538K |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,668,818 (GRCm39) |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation