Incidental Mutation 'R5369:Gm5592'
| ID |
429545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
042946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5369 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 40867635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206653
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,545,796 (GRCm39) |
T444A |
probably damaging |
Het |
| A330070K13Rik |
G |
A |
5: 130,407,932 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Acbd5 |
T |
A |
2: 23,002,522 (GRCm39) |
L508Q |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,562,563 (GRCm39) |
V175A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,010 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
C |
15: 76,004,422 (GRCm39) |
S711R |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,984,526 (GRCm39) |
I508T |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,726,959 (GRCm39) |
R524* |
probably null |
Het |
| C3 |
C |
A |
17: 57,528,159 (GRCm39) |
D687Y |
probably benign |
Het |
| Ccbe1 |
G |
A |
18: 66,194,485 (GRCm39) |
A367V |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,326 (GRCm39) |
M68K |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,327 (GRCm39) |
|
probably benign |
Het |
| Celf2 |
C |
A |
2: 7,085,892 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,897,119 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,622,687 (GRCm39) |
K26E |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,299,032 (GRCm39) |
I48F |
probably benign |
Het |
| Cnot7 |
A |
T |
8: 40,947,061 (GRCm39) |
N238K |
probably benign |
Het |
| Colec12 |
A |
G |
18: 9,866,750 (GRCm39) |
I654V |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,128,194 (GRCm39) |
I22T |
probably damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,910,645 (GRCm39) |
T1375M |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,042 (GRCm39) |
G725D |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,566,304 (GRCm39) |
E496G |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,499,637 (GRCm39) |
S573T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,415 (GRCm39) |
V593A |
probably benign |
Het |
| Focad |
T |
A |
4: 88,039,610 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,919,976 (GRCm39) |
I460T |
possibly damaging |
Het |
| Galnt10 |
T |
G |
11: 57,656,573 (GRCm39) |
|
probably null |
Het |
| Gm6185 |
A |
T |
1: 161,037,330 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7935 |
A |
T |
15: 73,952,963 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Gstm5 |
G |
A |
3: 107,805,782 (GRCm39) |
A198T |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,832,448 (GRCm39) |
V3048D |
probably damaging |
Het |
| Htra4 |
T |
G |
8: 25,523,585 (GRCm39) |
I327L |
possibly damaging |
Het |
| Ifi209 |
T |
C |
1: 173,464,873 (GRCm39) |
M1T |
probably null |
Het |
| Ints6 |
T |
C |
14: 62,981,384 (GRCm39) |
T135A |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,496,385 (GRCm39) |
I2604N |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,600,993 (GRCm39) |
M268L |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,894,625 (GRCm39) |
S2201* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,289,904 (GRCm39) |
N3645S |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,722 (GRCm39) |
I539N |
possibly damaging |
Het |
| Map3k6 |
T |
C |
4: 132,974,992 (GRCm39) |
I675T |
probably damaging |
Het |
| Map3k9 |
T |
A |
12: 81,768,826 (GRCm39) |
E1074V |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,862,075 (GRCm39) |
S339R |
probably benign |
Het |
| Mrps18a |
T |
C |
17: 46,436,552 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,654 (GRCm39) |
E466G |
probably damaging |
Het |
| Nat8f2 |
G |
T |
6: 85,844,854 (GRCm39) |
Y169* |
probably null |
Het |
| Nlrp1b |
A |
G |
11: 71,072,625 (GRCm39) |
I406T |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,167,705 (GRCm39) |
|
probably null |
Het |
| Or10z1 |
A |
G |
1: 174,078,007 (GRCm39) |
V162A |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,743 (GRCm39) |
M39K |
probably damaging |
Het |
| Ostf1 |
C |
T |
19: 18,558,689 (GRCm39) |
G198E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,558,619 (GRCm39) |
V596A |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,202,754 (GRCm39) |
*647Q |
probably null |
Het |
| Pkm |
A |
T |
9: 59,577,917 (GRCm39) |
I245F |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,009,940 (GRCm39) |
R131S |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,299,985 (GRCm39) |
H179R |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,739 (GRCm39) |
S1356T |
probably benign |
Het |
| Rbm45 |
T |
A |
2: 76,200,594 (GRCm39) |
L41Q |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
T |
14: 103,823,929 (GRCm39) |
I386F |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,809,487 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Sirt3 |
A |
T |
7: 140,449,406 (GRCm39) |
L180Q |
probably damaging |
Het |
| Slc24a2 |
C |
T |
4: 86,909,625 (GRCm39) |
V698I |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,788,067 (GRCm39) |
H483L |
probably damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,262 (GRCm39) |
D25G |
probably benign |
Het |
| Snrnp40 |
T |
C |
4: 130,256,439 (GRCm39) |
S55P |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,855 (GRCm39) |
C399S |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,655,743 (GRCm39) |
|
probably benign |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,341 (GRCm39) |
V108A |
possibly damaging |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,672 (GRCm39) |
N295K |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,807,491 (GRCm39) |
P1851L |
possibly damaging |
Het |
| Zfp472 |
A |
T |
17: 33,196,717 (GRCm39) |
D264V |
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 |
|
|
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'- AGCTCCTCTGAAAAGGTGAC -3'
(R):5'- GCATGTGCATTGCAAGGTGG -3'
Sequencing Primer
(F):5'- TAAAAGCCTCTGACCTGCTCGATG -3'
(R):5'- CAAGGTGGGTTCGAGGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation