Incidental Mutation 'R5340:Gm28042'
| ID |
422266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm28042
|
| Ensembl Gene |
ENSMUSG00000033852 |
| Gene Name |
predicted gene, 28042 |
| Synonyms |
|
| MMRRC Submission |
042919-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R5340 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119871929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 960
(S960P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126150]
[ENSMUST00000129685]
[ENSMUST00000162393]
[ENSMUST00000156805]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126150
AA Change: S737P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: S737P
| 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: S960P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: S960P
| 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: ENSMUST00000143794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153571
|
| 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 |
|
| 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: ENSMUST00000156805
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,420,231 (GRCm39) |
I793V |
probably benign |
Het |
| Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
| Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,852,781 (GRCm39) |
D391G |
probably benign |
Het |
| Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
| Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
| Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
| Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
| H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
| Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,359,427 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
| Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
| Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
| Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
| Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
| Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,670 (GRCm39) |
N683D |
probably benign |
Het |
| Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
| Ttll11 |
G |
T |
2: 35,792,801 (GRCm39) |
H347Q |
probably damaging |
Het |
| Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGTTCTGTGACCCAGC -3'
(R):5'- TGTCACTCCGGCCTAAACTG -3'
Sequencing Primer
(F):5'- TTCTGTGACCCAGCCCAGC -3'
(R):5'- GGCCTAAACTGTTTGCGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation