Incidental Mutation 'R5177:Gm28042'
ID |
399549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm28042
|
Ensembl Gene |
ENSMUSG00000033852 |
Gene Name |
predicted gene, 28042 |
Synonyms |
|
MMRRC Submission |
042757-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.531)
|
Stock # |
R5177 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 119872082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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: F788I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118458 Gene: ENSMUSG00000098488 AA Change: F788I
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: F1011I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000115498 Gene: ENSMUSG00000033852 AA Change: F1011I
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 null
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 |
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (71/73) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,115,639 (GRCm39) |
R575Q |
probably damaging |
Het |
Arhgap22 |
T |
G |
14: 33,088,650 (GRCm39) |
V377G |
probably benign |
Het |
Asic4 |
T |
C |
1: 75,427,483 (GRCm39) |
I3T |
probably damaging |
Het |
Atp2b4 |
T |
C |
1: 133,656,506 (GRCm39) |
T715A |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,103,992 (GRCm39) |
L464P |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,917,508 (GRCm39) |
H283L |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,152,683 (GRCm39) |
S176P |
probably benign |
Het |
Cfb |
A |
G |
17: 35,078,002 (GRCm39) |
V976A |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,595,989 (GRCm39) |
T1250A |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,180,730 (GRCm39) |
D131E |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,026,651 (GRCm39) |
S1920P |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,108,185 (GRCm39) |
H197Y |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,349,924 (GRCm39) |
|
probably null |
Het |
Ears2 |
A |
G |
7: 121,643,683 (GRCm39) |
|
probably benign |
Het |
Epgn |
A |
C |
5: 91,176,136 (GRCm39) |
|
probably benign |
Het |
Ern1 |
T |
C |
11: 106,302,601 (GRCm39) |
T418A |
probably benign |
Het |
F12 |
G |
A |
13: 55,567,981 (GRCm39) |
P476S |
probably benign |
Het |
Gal3st2c |
C |
T |
1: 93,936,930 (GRCm39) |
Q292* |
probably null |
Het |
Galnt7 |
C |
A |
8: 58,037,061 (GRCm39) |
Q109H |
possibly damaging |
Het |
Gimap1 |
G |
T |
6: 48,720,032 (GRCm39) |
G215W |
probably damaging |
Het |
Gm5414 |
A |
G |
15: 101,534,252 (GRCm39) |
I284T |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,992,914 (GRCm39) |
E10G |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,305,266 (GRCm39) |
K31E |
probably damaging |
Het |
Hspg2 |
A |
C |
4: 137,246,083 (GRCm39) |
Y989S |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,086,141 (GRCm39) |
T402M |
probably benign |
Het |
Klhdc4 |
A |
T |
8: 122,540,529 (GRCm39) |
L115* |
probably null |
Het |
Lama2 |
C |
T |
10: 27,066,699 (GRCm39) |
V1061M |
possibly damaging |
Het |
Llgl1 |
C |
T |
11: 60,602,833 (GRCm39) |
T836I |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,025,922 (GRCm39) |
D304G |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,660 (GRCm39) |
Q915R |
possibly damaging |
Het |
Myo18a |
A |
G |
11: 77,755,668 (GRCm39) |
|
probably benign |
Het |
Myorg |
C |
A |
4: 41,498,407 (GRCm39) |
E408* |
probably null |
Het |
Nbn |
A |
T |
4: 15,965,132 (GRCm39) |
|
probably null |
Het |
Nek8 |
G |
A |
11: 78,061,297 (GRCm39) |
Q383* |
probably null |
Het |
Nme7 |
T |
G |
1: 164,208,245 (GRCm39) |
Y304* |
probably null |
Het |
Nol8 |
A |
T |
13: 49,814,588 (GRCm39) |
H214L |
probably benign |
Het |
Nostrin |
A |
T |
2: 69,006,098 (GRCm39) |
I261F |
possibly damaging |
Het |
Oprk1 |
T |
G |
1: 5,672,897 (GRCm39) |
C345G |
probably damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,102 (GRCm39) |
T8A |
probably benign |
Het |
Or52j3 |
A |
T |
7: 102,836,710 (GRCm39) |
I301L |
probably benign |
Het |
Polrmt |
T |
C |
10: 79,573,310 (GRCm39) |
S998G |
probably benign |
Het |
Ppp1r12c |
T |
A |
7: 4,487,495 (GRCm39) |
R393* |
probably null |
Het |
Prpf3 |
T |
A |
3: 95,757,036 (GRCm39) |
|
probably benign |
Het |
Rabl6 |
T |
C |
2: 25,475,385 (GRCm39) |
M563V |
probably benign |
Het |
Rasa2 |
C |
A |
9: 96,426,844 (GRCm39) |
E775* |
probably null |
Het |
Rc3h1 |
G |
T |
1: 160,779,222 (GRCm39) |
V552L |
probably damaging |
Het |
Rhot1 |
A |
T |
11: 80,137,592 (GRCm39) |
N365Y |
possibly damaging |
Het |
Rimbp3 |
G |
A |
16: 17,027,781 (GRCm39) |
V402M |
possibly damaging |
Het |
Rusc2 |
A |
T |
4: 43,421,805 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
T |
C |
11: 70,536,643 (GRCm39) |
E141G |
probably damaging |
Het |
Slc34a1 |
A |
T |
13: 55,548,975 (GRCm39) |
I142F |
probably damaging |
Het |
Socs6 |
A |
C |
18: 88,887,504 (GRCm39) |
Y470* |
probably null |
Het |
Sox12 |
A |
T |
2: 152,239,098 (GRCm39) |
L174Q |
unknown |
Het |
Srl |
A |
G |
16: 4,314,267 (GRCm39) |
|
probably null |
Het |
Tacc1 |
A |
T |
8: 25,691,237 (GRCm39) |
V22E |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,379,582 (GRCm39) |
C947* |
probably null |
Het |
Tlr12 |
A |
C |
4: 128,512,169 (GRCm39) |
V27G |
probably damaging |
Het |
Tmprss4 |
C |
A |
9: 45,085,260 (GRCm39) |
V398L |
probably benign |
Het |
Trip6 |
T |
C |
5: 137,310,434 (GRCm39) |
D270G |
probably damaging |
Het |
Uba5 |
T |
G |
9: 103,926,497 (GRCm39) |
N355T |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,006,761 (GRCm39) |
Y1171H |
probably benign |
Het |
Vmn2r57 |
A |
G |
7: 41,049,664 (GRCm39) |
I695T |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,199 (GRCm39) |
I695L |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,651,177 (GRCm39) |
M192K |
probably damaging |
Het |
Vps16 |
G |
T |
2: 130,285,288 (GRCm39) |
E782* |
probably null |
Het |
Zfp783 |
A |
G |
6: 47,923,737 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGTGAATCTGTCTTCTTCTGAC -3'
(R):5'- AGCTTCCAGCCTAGACTCTG -3'
Sequencing Primer
(F):5'- TTCTGACTCCCCATACCACTACAC -3'
(R):5'- TCCAGCCTAGACTCTGTGACAG -3'
|
Posted On |
2016-07-06 |