Incidental Mutation 'R3276:Gm5592'
ID |
475825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5592
|
Ensembl Gene |
ENSMUSG00000072259 |
Gene Name |
predicted gene 5592 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R3276 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40937804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 362
(E362G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
AlphaFold |
Q3V0A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097044
AA Change: E362G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094809 Gene: ENSMUSG00000072259 AA Change: E362G
Domain | Start | End | E-Value | Type |
Pfam:DUF4629
|
435 |
580 |
6.1e-60 |
PFAM |
low complexity region
|
607 |
612 |
N/A |
INTRINSIC |
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206490
AA Change: E362G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
C |
T |
8: 87,233,495 (GRCm39) |
R1269H |
probably damaging |
Het |
Ace |
A |
G |
11: 105,867,528 (GRCm39) |
E164G |
probably null |
Het |
Als2 |
A |
T |
1: 59,209,167 (GRCm39) |
V1464E |
possibly damaging |
Het |
Atox1 |
A |
G |
11: 55,341,379 (GRCm39) |
L52P |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
Cdkn3 |
T |
C |
14: 47,008,934 (GRCm39) |
|
probably benign |
Het |
Col16a1 |
A |
G |
4: 129,951,792 (GRCm39) |
K72E |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,429 (GRCm39) |
H36R |
probably benign |
Het |
Cyp4b1 |
T |
C |
4: 115,483,047 (GRCm39) |
N415D |
possibly damaging |
Het |
Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,418,436 (GRCm39) |
F25L |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,587,805 (GRCm39) |
F584S |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,689,801 (GRCm39) |
T715A |
probably benign |
Het |
Eogt |
T |
A |
6: 97,108,355 (GRCm39) |
I229F |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,780,187 (GRCm39) |
T164A |
possibly damaging |
Het |
Fam133b |
A |
T |
5: 3,608,522 (GRCm39) |
N84I |
probably damaging |
Het |
Fbxl21 |
T |
A |
13: 56,684,935 (GRCm39) |
Y346* |
probably null |
Het |
Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
Golga3 |
T |
C |
5: 110,349,864 (GRCm39) |
|
probably benign |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,537,377 (GRCm39) |
N1119S |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,682,063 (GRCm39) |
I207V |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl5 |
T |
C |
17: 28,798,920 (GRCm39) |
I143T |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,955,269 (GRCm39) |
K431E |
possibly damaging |
Het |
Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
Maml3 |
A |
T |
3: 51,764,351 (GRCm39) |
N204K |
possibly damaging |
Het |
Mmut |
A |
G |
17: 41,269,763 (GRCm39) |
|
probably null |
Het |
Mrpl19 |
T |
C |
6: 81,941,047 (GRCm39) |
S115G |
probably damaging |
Het |
Mthfd1l |
G |
C |
10: 4,098,025 (GRCm39) |
G954A |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,783,001 (GRCm39) |
I172V |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,530 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
T |
C |
2: 168,348,914 (GRCm39) |
N638D |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,014,215 (GRCm39) |
|
probably benign |
Het |
Or52r1c |
C |
A |
7: 102,734,957 (GRCm39) |
D72E |
probably damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,939 (GRCm39) |
C141S |
probably damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
Prcd |
A |
G |
11: 116,550,637 (GRCm39) |
E103G |
possibly damaging |
Het |
Prkx |
A |
T |
X: 76,814,881 (GRCm39) |
F260I |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,631,142 (GRCm39) |
|
probably null |
Het |
Ranbp1 |
T |
C |
16: 18,065,293 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,319,590 (GRCm39) |
M1003K |
probably benign |
Het |
Scap |
A |
T |
9: 110,203,093 (GRCm39) |
M256L |
probably benign |
Het |
Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
Septin4 |
T |
C |
11: 87,458,070 (GRCm39) |
V148A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
Tmem120b |
T |
A |
5: 123,252,167 (GRCm39) |
I146N |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
Ube3a |
T |
A |
7: 58,926,267 (GRCm39) |
C348* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,149,166 (GRCm39) |
D1777E |
probably benign |
Het |
Unc79 |
C |
A |
12: 103,079,476 (GRCm39) |
D1880E |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly damaging |
Het |
|
Other mutations in Gm5592 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Gm5592
|
APN |
7 |
40,938,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01472:Gm5592
|
APN |
7 |
40,935,498 (GRCm39) |
splice site |
probably benign |
|
IGL01718:Gm5592
|
APN |
7 |
40,938,617 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01981:Gm5592
|
APN |
7 |
40,935,795 (GRCm39) |
nonsense |
probably null |
|
IGL02318:Gm5592
|
APN |
7 |
40,936,212 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02346:Gm5592
|
APN |
7 |
40,938,889 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02904:Gm5592
|
APN |
7 |
40,937,810 (GRCm39) |
missense |
probably damaging |
1.00 |
I1329:Gm5592
|
UTSW |
7 |
40,935,778 (GRCm39) |
nonsense |
probably null |
|
R0465:Gm5592
|
UTSW |
7 |
40,805,481 (GRCm39) |
intron |
probably benign |
|
R0669:Gm5592
|
UTSW |
7 |
40,805,254 (GRCm39) |
intron |
probably benign |
|
R0675:Gm5592
|
UTSW |
7 |
40,938,811 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1381:Gm5592
|
UTSW |
7 |
40,935,596 (GRCm39) |
missense |
probably benign |
|
R1731:Gm5592
|
UTSW |
7 |
40,937,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R3149:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
R3150:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
R3176:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
R3177:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
R3277:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
R3623:Gm5592
|
UTSW |
7 |
40,807,052 (GRCm39) |
intron |
probably benign |
|
R3797:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
R3854:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
R3856:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
R4009:Gm5592
|
UTSW |
7 |
40,938,934 (GRCm39) |
missense |
probably benign |
0.01 |
R4010:Gm5592
|
UTSW |
7 |
40,936,052 (GRCm39) |
missense |
probably benign |
0.05 |
R4011:Gm5592
|
UTSW |
7 |
40,938,934 (GRCm39) |
missense |
probably benign |
0.01 |
R4127:Gm5592
|
UTSW |
7 |
40,938,491 (GRCm39) |
missense |
probably benign |
0.00 |
R4162:Gm5592
|
UTSW |
7 |
40,867,202 (GRCm39) |
intron |
probably benign |
|
R4289:Gm5592
|
UTSW |
7 |
40,808,336 (GRCm39) |
intron |
probably benign |
|
R4304:Gm5592
|
UTSW |
7 |
40,935,686 (GRCm39) |
missense |
probably benign |
0.20 |
R4332:Gm5592
|
UTSW |
7 |
40,865,542 (GRCm39) |
intron |
probably benign |
|
R4408:Gm5592
|
UTSW |
7 |
40,935,872 (GRCm39) |
missense |
probably benign |
0.04 |
R4572:Gm5592
|
UTSW |
7 |
40,865,583 (GRCm39) |
intron |
probably benign |
|
R4764:Gm5592
|
UTSW |
7 |
40,865,542 (GRCm39) |
intron |
probably benign |
|
R4822:Gm5592
|
UTSW |
7 |
40,805,314 (GRCm39) |
intron |
probably benign |
|
R4836:Gm5592
|
UTSW |
7 |
40,864,958 (GRCm39) |
intron |
probably benign |
|
R4854:Gm5592
|
UTSW |
7 |
40,866,895 (GRCm39) |
intron |
probably benign |
|
R5032:Gm5592
|
UTSW |
7 |
40,939,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Gm5592
|
UTSW |
7 |
40,808,387 (GRCm39) |
intron |
probably benign |
|
R5369:Gm5592
|
UTSW |
7 |
40,867,635 (GRCm39) |
intron |
probably benign |
|
R5424:Gm5592
|
UTSW |
7 |
40,805,017 (GRCm39) |
intron |
probably benign |
|
R5700:Gm5592
|
UTSW |
7 |
40,808,003 (GRCm39) |
intron |
probably benign |
|
R5741:Gm5592
|
UTSW |
7 |
40,938,625 (GRCm39) |
missense |
probably benign |
|
R5802:Gm5592
|
UTSW |
7 |
40,868,529 (GRCm39) |
intron |
probably benign |
|
R5945:Gm5592
|
UTSW |
7 |
40,865,036 (GRCm39) |
intron |
probably benign |
|
R6117:Gm5592
|
UTSW |
7 |
40,937,888 (GRCm39) |
missense |
probably benign |
0.00 |
R6324:Gm5592
|
UTSW |
7 |
40,935,959 (GRCm39) |
missense |
probably damaging |
0.98 |
R6449:Gm5592
|
UTSW |
7 |
40,938,010 (GRCm39) |
missense |
probably benign |
0.09 |
R6571:Gm5592
|
UTSW |
7 |
40,937,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R6776:Gm5592
|
UTSW |
7 |
40,939,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R7595:Gm5592
|
UTSW |
7 |
40,935,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R7658:Gm5592
|
UTSW |
7 |
40,938,134 (GRCm39) |
missense |
probably benign |
0.03 |
R7699:Gm5592
|
UTSW |
7 |
40,935,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7700:Gm5592
|
UTSW |
7 |
40,935,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7774:Gm5592
|
UTSW |
7 |
40,939,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7788:Gm5592
|
UTSW |
7 |
40,936,118 (GRCm39) |
missense |
probably benign |
0.01 |
R7890:Gm5592
|
UTSW |
7 |
40,936,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Gm5592
|
UTSW |
7 |
40,935,887 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8417:Gm5592
|
UTSW |
7 |
40,937,975 (GRCm39) |
missense |
probably benign |
0.38 |
R8866:Gm5592
|
UTSW |
7 |
40,938,246 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9044:Gm5592
|
UTSW |
7 |
40,938,274 (GRCm39) |
missense |
probably benign |
0.25 |
R9057:Gm5592
|
UTSW |
7 |
40,938,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9258:Gm5592
|
UTSW |
7 |
40,938,407 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9451:Gm5592
|
UTSW |
7 |
40,935,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R9760:Gm5592
|
UTSW |
7 |
40,939,234 (GRCm39) |
missense |
possibly damaging |
0.57 |
X0021:Gm5592
|
UTSW |
7 |
40,937,932 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Gm5592
|
UTSW |
7 |
40,938,105 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Gm5592
|
UTSW |
7 |
40,935,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Gm5592
|
UTSW |
7 |
40,935,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-05-11 |