Incidental Mutation 'R4572:Gm5592'
| ID |
381265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
041796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 40865583 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: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,374 (GRCm39) |
I747N |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,973,268 (GRCm39) |
Y97C |
probably damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,007 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,414,075 (GRCm39) |
S2014T |
probably damaging |
Het |
| Ankrd36 |
A |
T |
11: 5,639,340 (GRCm39) |
|
probably null |
Het |
| Apobec1 |
T |
C |
6: 122,558,356 (GRCm39) |
D133G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,366 (GRCm39) |
I181N |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,060 (GRCm39) |
V646A |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,318,389 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,330,751 (GRCm39) |
T423A |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,213,874 (GRCm39) |
D227G |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,658,990 (GRCm39) |
F217S |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,440,455 (GRCm39) |
M1036V |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,973,860 (GRCm39) |
I2818N |
probably benign |
Het |
| Dok6 |
T |
A |
18: 89,492,071 (GRCm39) |
I169F |
possibly damaging |
Het |
| Duox2 |
T |
A |
2: 122,112,207 (GRCm39) |
R1326S |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,796,361 (GRCm39) |
T357A |
unknown |
Het |
| Ephb2 |
A |
C |
4: 136,383,251 (GRCm39) |
F942C |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,430,634 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
A |
G |
11: 42,484,744 (GRCm39) |
N267S |
possibly damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,282,001 (GRCm39) |
Y452F |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,419 (GRCm39) |
S457P |
probably damaging |
Het |
| Gm1993 |
C |
T |
X: 25,515,656 (GRCm39) |
R77H |
probably damaging |
Het |
| Hmbox1 |
A |
G |
14: 65,140,682 (GRCm39) |
|
probably null |
Het |
| Hus1 |
A |
T |
11: 8,957,617 (GRCm39) |
|
probably null |
Het |
| Ino80 |
G |
A |
2: 119,232,839 (GRCm39) |
R1160W |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,212,412 (GRCm39) |
F27L |
probably damaging |
Het |
| Kri1 |
A |
T |
9: 21,191,680 (GRCm39) |
F187L |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,691,336 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk15 |
T |
C |
15: 75,870,599 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
G |
A |
7: 143,334,841 (GRCm39) |
L221F |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,399 (GRCm39) |
S91T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Mup15 |
A |
G |
4: 61,356,454 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 27,005,911 (GRCm39) |
D1469G |
probably damaging |
Het |
| Nlrp9b |
G |
A |
7: 19,760,606 (GRCm39) |
|
probably null |
Het |
| Npy6r |
A |
T |
18: 44,408,984 (GRCm39) |
Y135F |
probably benign |
Het |
| Or7e170 |
A |
C |
9: 19,795,275 (GRCm39) |
C109G |
probably benign |
Het |
| Phf14 |
G |
A |
6: 12,006,823 (GRCm39) |
R825Q |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,751 (GRCm39) |
M379V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,897 (GRCm39) |
Q315L |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,932,717 (GRCm39) |
C1921F |
probably damaging |
Het |
| Ptger4 |
A |
C |
15: 5,272,614 (GRCm39) |
S2A |
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,560,799 (GRCm39) |
D196V |
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
| Rgs14 |
A |
T |
13: 55,527,875 (GRCm39) |
N266I |
probably damaging |
Het |
| Serpina1c |
A |
T |
12: 103,864,967 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
G |
A |
9: 14,232,516 (GRCm39) |
R263H |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,289 (GRCm39) |
D135V |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,926,193 (GRCm39) |
K46E |
possibly damaging |
Het |
| Srcin1 |
A |
C |
11: 97,425,760 (GRCm39) |
D432E |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,713,888 (GRCm39) |
E217G |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,738,649 (GRCm39) |
D179G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,509,343 (GRCm39) |
F556L |
possibly damaging |
Het |
| Tmed4 |
CTCTTTCT |
CTCT |
11: 6,224,461 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
T |
15: 72,808,916 (GRCm39) |
Q537K |
possibly damaging |
Het |
| Trim30a |
G |
T |
7: 104,060,395 (GRCm39) |
C460* |
probably null |
Het |
| Trim35 |
T |
C |
14: 66,545,322 (GRCm39) |
Y298H |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,479 (GRCm39) |
H209Q |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,021,830 (GRCm39) |
K627R |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,928,872 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Wnt9b |
G |
A |
11: 103,622,981 (GRCm39) |
R141C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,611 (GRCm39) |
M37V |
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,944,628 (GRCm39) |
N186K |
probably benign |
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 |
|
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'- GTTTTGTCCAAGTTACACCACC -3'
(R):5'- TCTCTGGCTGTGTGGAATATCC -3'
Sequencing Primer
(F):5'- TACCAGATCAAGGATATAGCCTGGC -3'
(R):5'- CCACTATGAAAAGTAGACTTGAGC -3'
|
| Posted On |
2016-04-26 |
Incidental Mutation