Incidental Mutation 'R3177:Gm5592'
| ID |
259165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
040615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3177 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (21/21) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,020 (GRCm39) |
R553G |
possibly damaging |
Het |
| Adarb2 |
A |
G |
13: 8,802,663 (GRCm39) |
N646S |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,571,008 (GRCm39) |
G1242S |
probably benign |
Het |
| Ano9 |
T |
A |
7: 140,684,037 (GRCm39) |
T543S |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,503 (GRCm39) |
D330G |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Cdx2 |
A |
T |
5: 147,240,002 (GRCm39) |
S225T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,617,120 (GRCm39) |
I843M |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,414,925 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,613 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,134,216 (GRCm39) |
V41M |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,597 (GRCm39) |
Y1206H |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,972,211 (GRCm39) |
|
probably null |
Het |
| Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,122,195 (GRCm39) |
Q1455L |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,692,873 (GRCm39) |
F49S |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gm5581 |
C |
G |
6: 131,143,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7104 |
A |
T |
12: 88,252,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hacd4 |
T |
C |
4: 88,355,747 (GRCm39) |
H46R |
probably damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,644 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,803,176 (GRCm39) |
V2175A |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,951 (GRCm39) |
S169G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hlf |
T |
C |
11: 90,236,661 (GRCm39) |
K199E |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,751,448 (GRCm39) |
A92E |
probably 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 |
| Kif2a |
A |
G |
13: 107,113,264 (GRCm39) |
I455T |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc3 |
G |
T |
2: 31,798,637 (GRCm39) |
G448C |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,583,475 (GRCm39) |
G425D |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,666,273 (GRCm39) |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
| Mdh1b |
G |
A |
1: 63,750,690 (GRCm39) |
T426M |
possibly damaging |
Het |
| Nr1h4 |
G |
A |
10: 89,314,650 (GRCm39) |
T282I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or52k2 |
T |
C |
7: 102,253,783 (GRCm39) |
V74A |
possibly 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 |
| Parp9 |
T |
C |
16: 35,768,578 (GRCm39) |
S20P |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,101,703 (GRCm39) |
F963L |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,717,943 (GRCm39) |
L294F |
probably benign |
Het |
| Radil |
A |
G |
5: 142,492,611 (GRCm39) |
L339P |
probably damaging |
Het |
| Raver1 |
G |
A |
9: 20,990,573 (GRCm39) |
P316S |
possibly damaging |
Het |
| Rell1 |
A |
G |
5: 64,084,330 (GRCm39) |
|
probably null |
Het |
| Rxrg |
A |
G |
1: 167,463,269 (GRCm39) |
D257G |
possibly damaging |
Het |
| Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
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 |
| Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,082,339 (GRCm39) |
C1642G |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Wrn |
A |
G |
8: 33,807,582 (GRCm39) |
M292T |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,508,959 (GRCm39) |
Y462H |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,234,345 (GRCm39) |
Y124N |
possibly damaging |
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 |
|
R3276: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 |
PCR Primer
(F):5'- GGACAAGGCATTAACAGCCC -3'
(R):5'- GACTGTCCAGGTTTCACAGG -3'
Sequencing Primer
(F):5'- CCCATCCACAGTCCTTCAGAG -3'
(R):5'- GTCCAGGTTTCACAGGACTGATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation