Incidental Mutation 'R1718:Gm28042'
ID |
191182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm28042
|
Ensembl Gene |
ENSMUSG00000033852 |
Gene Name |
predicted gene, 28042 |
Synonyms |
|
MMRRC Submission |
039751-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.531)
|
Stock # |
R1718 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119866872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 172
(S172T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000126150]
[ENSMUST00000129685]
[ENSMUST00000156805]
[ENSMUST00000162393]
|
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: S172T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118458 Gene: ENSMUSG00000098488 AA Change: S172T
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: S395T
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000115498 Gene: ENSMUSG00000033852 AA Change: S395T
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: ENSMUST00000130176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134380
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156805
AA Change: S395T
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117535 Gene: ENSMUSG00000033852 AA Change: S395T
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: ENSMUST00000143794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153571
|
Meta Mutation Damage Score |
0.0983 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
G |
T |
13: 77,393,489 (GRCm39) |
|
probably benign |
Het |
Acot3 |
T |
G |
12: 84,100,717 (GRCm39) |
|
probably null |
Het |
Acox1 |
A |
T |
11: 116,065,508 (GRCm39) |
C523* |
probably null |
Het |
Adamts19 |
G |
A |
18: 59,105,897 (GRCm39) |
C764Y |
probably damaging |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Apob |
A |
G |
12: 8,066,087 (GRCm39) |
K4319R |
probably benign |
Het |
AU016765 |
A |
C |
17: 64,862,433 (GRCm39) |
|
noncoding transcript |
Het |
Bpifb1 |
T |
A |
2: 154,055,903 (GRCm39) |
|
probably null |
Het |
Btn2a2 |
A |
G |
13: 23,666,106 (GRCm39) |
V242A |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,168,481 (GRCm39) |
S1281P |
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,959,772 (GRCm39) |
K306E |
probably benign |
Het |
Cemip |
A |
G |
7: 83,584,866 (GRCm39) |
V1350A |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,531,783 (GRCm39) |
L674* |
probably null |
Het |
Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,968,867 (GRCm39) |
V379A |
possibly damaging |
Het |
Dnah9 |
T |
A |
11: 66,058,905 (GRCm39) |
H130L |
possibly damaging |
Het |
Enpp7 |
A |
G |
11: 118,881,809 (GRCm39) |
Y318C |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,702,748 (GRCm39) |
|
probably null |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm7808 |
T |
A |
9: 19,839,299 (GRCm39) |
|
probably benign |
Het |
Gpr61 |
C |
T |
3: 108,057,696 (GRCm39) |
V322M |
possibly damaging |
Het |
H2-T5 |
A |
G |
17: 36,472,676 (GRCm39) |
|
probably benign |
Het |
Hapln3 |
A |
G |
7: 78,773,198 (GRCm39) |
V15A |
unknown |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Klk1b4 |
A |
G |
7: 43,859,096 (GRCm39) |
Y38C |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,043,277 (GRCm39) |
K561E |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,891,953 (GRCm39) |
C1101R |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,896,229 (GRCm39) |
|
probably benign |
Het |
Mfsd2b |
G |
A |
12: 4,919,037 (GRCm39) |
T73I |
probably damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,851,199 (GRCm39) |
V19I |
probably benign |
Het |
Mgme1 |
T |
A |
2: 144,114,238 (GRCm39) |
D113E |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,297,223 (GRCm39) |
S2604P |
probably damaging |
Het |
Mob3c |
A |
G |
4: 115,688,841 (GRCm39) |
I125V |
probably benign |
Het |
Mrps9 |
G |
A |
1: 42,942,559 (GRCm39) |
R339H |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,840,875 (GRCm39) |
D269G |
probably damaging |
Het |
Nedd9 |
T |
C |
13: 41,492,402 (GRCm39) |
N30S |
probably damaging |
Het |
Notch4 |
G |
A |
17: 34,795,737 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
T |
C |
2: 85,269,149 (GRCm39) |
M118V |
probably benign |
Het |
Or5t15 |
A |
T |
2: 86,681,531 (GRCm39) |
N170K |
probably benign |
Het |
Or8b9 |
G |
A |
9: 37,766,749 (GRCm39) |
V212I |
probably benign |
Het |
Or8c10 |
A |
G |
9: 38,278,890 (GRCm39) |
D6G |
probably benign |
Het |
Papss1 |
C |
A |
3: 131,324,946 (GRCm39) |
R447S |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,747,274 (GRCm39) |
|
probably benign |
Het |
Rab11fip2 |
A |
G |
19: 59,924,081 (GRCm39) |
F266L |
probably damaging |
Het |
Ralgapb |
T |
A |
2: 158,285,200 (GRCm39) |
Y554* |
probably null |
Het |
Rem2 |
T |
C |
14: 54,716,607 (GRCm39) |
V240A |
probably damaging |
Het |
Retsat |
T |
C |
6: 72,579,654 (GRCm39) |
V143A |
probably benign |
Het |
Rnf141 |
G |
T |
7: 110,420,480 (GRCm39) |
Q175K |
probably damaging |
Het |
Rtcb |
C |
A |
10: 85,777,881 (GRCm39) |
G431V |
probably damaging |
Het |
Slc7a6os |
A |
G |
8: 106,930,971 (GRCm39) |
W222R |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,304,867 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,755,828 (GRCm39) |
Y218N |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
Speg |
A |
G |
1: 75,398,388 (GRCm39) |
Q1945R |
possibly damaging |
Het |
Sprtn |
T |
C |
8: 125,625,096 (GRCm39) |
V67A |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tnks1bp1 |
G |
T |
2: 84,902,082 (GRCm39) |
E997D |
probably benign |
Het |
Tti1 |
A |
T |
2: 157,850,144 (GRCm39) |
V365E |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,272,715 (GRCm39) |
I590V |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,950,121 (GRCm39) |
D847G |
probably benign |
Het |
Zfp184 |
A |
G |
13: 22,143,442 (GRCm39) |
T383A |
possibly damaging |
Het |
Zik1 |
T |
A |
7: 10,226,268 (GRCm39) |
E33V |
probably damaging |
Het |
Zik1 |
C |
A |
7: 10,226,269 (GRCm39) |
E33* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGCACGTTGAACTGAAGAGGAC -3'
(R):5'- TGACCTGACAGACAGGAGCAGTATG -3'
Sequencing Primer
(F):5'- GATCCAAAGAGTGAGTTCTGTCCTC -3'
(R):5'- GAACAGCTCAGGCTGAGAC -3'
|
Posted On |
2014-05-14 |