Incidental Mutation 'R9044:Gm5592'
| ID |
687917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
068871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40938274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 519
(K519E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097044
AA Change: K519E
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: K519E
| 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 |
probably benign
Transcript: ENSMUST00000206490
AA Change: K519E
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.2690 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,902,314 (GRCm39) |
Y667* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,373,578 (GRCm39) |
H1869R |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,441,748 (GRCm39) |
T950A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,735 (GRCm39) |
L3110Q |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,740,434 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
A |
T |
17: 29,025,871 (GRCm39) |
N315Y |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,261 (GRCm39) |
D142G |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cyba |
T |
A |
8: 123,151,630 (GRCm39) |
D189V |
probably benign |
Het |
| Dexi |
A |
G |
16: 10,321,385 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,420,247 (GRCm39) |
V156I |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,077 (GRCm39) |
V420A |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,479,584 (GRCm39) |
V167E |
probably damaging |
Het |
| Eid2 |
T |
C |
7: 27,968,038 (GRCm39) |
I220T |
possibly damaging |
Het |
| Fggy |
A |
C |
4: 95,732,334 (GRCm39) |
T442P |
probably benign |
Het |
| Foxi3 |
T |
G |
6: 70,933,683 (GRCm39) |
S57A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,186 (GRCm39) |
|
probably null |
Het |
| Galntl5 |
C |
T |
5: 25,415,326 (GRCm39) |
P286S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 120,957,269 (GRCm39) |
S587T |
unknown |
Het |
| Kcns1 |
G |
T |
2: 164,009,996 (GRCm39) |
F254L |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,840,781 (GRCm39) |
T23A |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,541,577 (GRCm39) |
Q1241R |
possibly damaging |
Het |
| Lck |
A |
T |
4: 129,450,098 (GRCm39) |
L205Q |
probably damaging |
Het |
| Map9 |
C |
T |
3: 82,287,525 (GRCm39) |
A420V |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,530,960 (GRCm39) |
D170E |
|
Het |
| Mllt6 |
T |
A |
11: 97,554,485 (GRCm39) |
C30S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,411,795 (GRCm39) |
D1580E |
unknown |
Het |
| Oaf |
C |
T |
9: 43,135,308 (GRCm39) |
A157T |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,902,485 (GRCm39) |
|
probably benign |
Het |
| Or2ab1 |
T |
A |
11: 58,489,126 (GRCm39) |
N295K |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,128 (GRCm39) |
I8V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,247 (GRCm39) |
Y641C |
probably damaging |
Het |
| Phf10 |
A |
T |
17: 15,166,584 (GRCm39) |
C429S |
probably damaging |
Het |
| Plekha6 |
C |
G |
1: 133,201,687 (GRCm39) |
P367A |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,201,688 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,273 (GRCm39) |
I756K |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,044,566 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,530,554 (GRCm39) |
M1014K |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,171,540 (GRCm39) |
D304G |
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,147,245 (GRCm39) |
L28I |
probably benign |
Het |
| Rffl |
C |
T |
11: 82,701,020 (GRCm39) |
V269I |
probably benign |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
C |
T |
19: 29,577,294 (GRCm39) |
A1066V |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,752,989 (GRCm39) |
Y1777* |
probably null |
Het |
| Scart2 |
G |
T |
7: 139,828,010 (GRCm39) |
G73C |
probably damaging |
Het |
| Sh3tc1 |
T |
G |
5: 35,854,834 (GRCm39) |
K1288Q |
possibly damaging |
Het |
| Slc10a5 |
A |
C |
3: 10,399,792 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,110,797 (GRCm39) |
T128A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,333,632 (GRCm39) |
H373R |
probably benign |
Het |
| Spesp1 |
A |
G |
9: 62,180,623 (GRCm39) |
I95T |
probably benign |
Het |
| Sra1 |
C |
T |
18: 36,800,946 (GRCm39) |
V131I |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 37,024,930 (GRCm39) |
V556A |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,617 (GRCm39) |
E1414G |
probably damaging |
Het |
| Trac |
A |
T |
14: 54,458,148 (GRCm39) |
K57* |
probably null |
Het |
| Trps1 |
T |
C |
15: 50,686,003 (GRCm39) |
E724G |
probably benign |
Het |
| Tubgcp6 |
T |
G |
15: 88,987,397 (GRCm39) |
D1192A |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vps18 |
T |
G |
2: 119,128,034 (GRCm39) |
I952M |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,970,499 (GRCm39) |
F20S |
probably damaging |
Het |
| Wdr62 |
C |
A |
7: 29,962,062 (GRCm39) |
R450L |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,668,641 (GRCm39) |
K76E |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
probably 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 |
|
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 |
|
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'- CAGGCCAAATTCCAGCACTG -3'
(R):5'- AGGAGATGCCAGTTTTCTTCTCAG -3'
Sequencing Primer
(F):5'- AGCACTGGGACCTGGTG -3'
(R):5'- CTCAGTCTTCTTCCCAAGTGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation