Incidental Mutation 'R4764:Gm5592'
ID |
357096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5592
|
Ensembl Gene |
ENSMUSG00000072259 |
Gene Name |
predicted gene 5592 |
Synonyms |
|
MMRRC Submission |
042405-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to T
at 40865542 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
|
Meta Mutation Damage Score |
0.1413 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
G |
5: 146,122,029 (GRCm39) |
S18R |
probably benign |
Het |
2010315B03Rik |
A |
C |
9: 124,056,396 (GRCm39) |
V176G |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,765,732 (GRCm39) |
|
probably null |
Het |
Acad11 |
C |
A |
9: 103,953,076 (GRCm39) |
P102T |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,501,221 (GRCm39) |
D387V |
probably damaging |
Het |
Akr1c13 |
G |
A |
13: 4,248,496 (GRCm39) |
V234I |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Arl8a |
C |
A |
1: 135,074,837 (GRCm39) |
A41E |
probably benign |
Het |
Axin1 |
C |
A |
17: 26,392,730 (GRCm39) |
T337K |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,192,775 (GRCm39) |
L1353P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,934,520 (GRCm39) |
V2851E |
probably damaging |
Het |
C9 |
A |
T |
15: 6,489,124 (GRCm39) |
E160D |
probably damaging |
Het |
Cbx6 |
T |
C |
15: 79,712,881 (GRCm39) |
D182G |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,597,678 (GRCm39) |
R242G |
possibly damaging |
Het |
Chst8 |
T |
C |
7: 34,375,149 (GRCm39) |
D230G |
probably damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Cst12 |
A |
G |
2: 148,631,393 (GRCm39) |
E38G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,660 (GRCm39) |
A920E |
probably damaging |
Het |
Dtna |
T |
G |
18: 23,668,206 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
A |
14: 65,820,378 (GRCm39) |
H97L |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,314 (GRCm39) |
F18L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,769 (GRCm39) |
T138A |
probably benign |
Het |
Foxi2 |
G |
T |
7: 135,012,396 (GRCm39) |
G95C |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,907,426 (GRCm39) |
D811E |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,608,259 (GRCm39) |
E709V |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,436,200 (GRCm39) |
*499K |
probably null |
Het |
Galc |
C |
T |
12: 98,209,003 (GRCm39) |
G217D |
possibly damaging |
Het |
Gm57858 |
T |
G |
3: 36,064,809 (GRCm39) |
*521C |
probably null |
Het |
Hnrnpul1 |
A |
G |
7: 25,442,436 (GRCm39) |
S269P |
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,457,496 (GRCm39) |
V259A |
probably benign |
Het |
Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
Mtf2 |
T |
C |
5: 108,241,218 (GRCm39) |
I248T |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,299,345 (GRCm39) |
T130M |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,485,880 (GRCm39) |
F653S |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,250,417 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
T |
9: 75,023,618 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,489 (GRCm39) |
D118V |
probably damaging |
Het |
Npat |
T |
C |
9: 53,483,920 (GRCm39) |
F1412S |
probably damaging |
Het |
Onecut3 |
G |
T |
10: 80,331,541 (GRCm39) |
A234S |
unknown |
Het |
Or1ad1 |
G |
A |
11: 50,875,602 (GRCm39) |
E25K |
probably benign |
Het |
Or8b37 |
T |
G |
9: 37,959,436 (GRCm39) |
L306R |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,376,344 (GRCm39) |
I73K |
probably damaging |
Het |
Otog |
C |
T |
7: 45,937,943 (GRCm39) |
T1884I |
probably benign |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,999,868 (GRCm39) |
Y62H |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,809,687 (GRCm39) |
V97D |
possibly damaging |
Het |
Plekhf1 |
A |
G |
7: 37,921,022 (GRCm39) |
V182A |
probably damaging |
Het |
Plscr4 |
T |
C |
9: 92,366,833 (GRCm39) |
V149A |
probably damaging |
Het |
Polr2l |
A |
T |
7: 141,053,309 (GRCm39) |
L35Q |
probably damaging |
Het |
Ppp3ca |
T |
C |
3: 136,596,250 (GRCm39) |
I305T |
probably damaging |
Het |
Ptprg |
G |
A |
14: 12,122,068 (GRCm38) |
A311T |
probably benign |
Het |
Raet1e |
T |
G |
10: 22,057,231 (GRCm39) |
I185R |
probably damaging |
Het |
Rims1 |
A |
C |
1: 22,518,543 (GRCm39) |
V520G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,416,101 (GRCm39) |
D1670E |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,868 (GRCm39) |
I352N |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,418 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,563,376 (GRCm39) |
|
probably null |
Het |
Sall3 |
A |
G |
18: 81,017,691 (GRCm39) |
V79A |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,600,119 (GRCm39) |
V93M |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,819,390 (GRCm39) |
N197D |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,709,483 (GRCm39) |
R137* |
probably null |
Het |
Stxbp5 |
C |
A |
10: 9,646,367 (GRCm39) |
R115L |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,965,167 (GRCm39) |
R290H |
probably damaging |
Het |
Tmem132e |
A |
T |
11: 82,325,338 (GRCm39) |
T113S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,458 (GRCm39) |
I286N |
probably damaging |
Het |
Trio |
G |
A |
15: 27,732,624 (GRCm39) |
R3086* |
probably null |
Het |
Usp22 |
T |
A |
11: 61,051,462 (GRCm39) |
N294Y |
probably damaging |
Het |
Usp44 |
T |
A |
10: 93,681,933 (GRCm39) |
S128T |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,653,384 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,304,372 (GRCm39) |
Y1204C |
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 |
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 |
|
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'- ACCAGTTTTGTCCAAGTTACACC -3'
(R):5'- CTCTGGCTGTGTGGAATATCC -3'
Sequencing Primer
(F):5'- GTTTTGTCCAAGTTACACCACCACAG -3'
(R):5'- AAGTAGACTTGAGCATCCTTGG -3'
|
Posted On |
2015-11-11 |