Incidental Mutation 'R5802:Gm5592'
| ID |
448783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
043391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 40868529 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: 95.7%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 12,021,188 (GRCm39) |
D383V |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Abca4 |
A |
T |
3: 121,847,881 (GRCm39) |
L67F |
probably damaging |
Het |
| Abcc9 |
C |
A |
6: 142,602,402 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
T |
C |
11: 72,863,708 (GRCm39) |
V175A |
probably damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,731 (GRCm39) |
D169V |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,307 (GRCm39) |
E90G |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,365,716 (GRCm39) |
I155N |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,178,458 (GRCm39) |
N519D |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,152,243 (GRCm39) |
S582P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,006 (GRCm39) |
F280S |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,729,690 (GRCm39) |
T764M |
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,337,100 (GRCm39) |
S4T |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,073,086 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,927,272 (GRCm39) |
V3839I |
possibly damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,550 (GRCm39) |
Y286H |
probably benign |
Het |
| Dynap |
T |
A |
18: 70,374,073 (GRCm39) |
D151V |
unknown |
Het |
| Ednrb |
A |
G |
14: 104,059,150 (GRCm39) |
F292S |
probably damaging |
Het |
| Eef1a1 |
A |
G |
9: 78,386,318 (GRCm39) |
S396P |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,006,582 (GRCm39) |
F324S |
probably benign |
Het |
| Fbxw11 |
T |
A |
11: 32,661,790 (GRCm39) |
S56T |
probably benign |
Het |
| Gm17535 |
G |
C |
9: 3,035,758 (GRCm39) |
V209L |
probably benign |
Homo |
| Gpr137 |
C |
T |
19: 6,919,373 (GRCm39) |
W51* |
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,422,179 (GRCm39) |
|
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,475,879 (GRCm39) |
Y146C |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,370,160 (GRCm39) |
C2982F |
probably damaging |
Het |
| Hnrnpa3 |
T |
A |
2: 75,495,400 (GRCm39) |
N309K |
unknown |
Het |
| Hydin |
A |
T |
8: 111,178,692 (GRCm39) |
I1096F |
possibly damaging |
Het |
| Klf12 |
A |
G |
14: 100,260,330 (GRCm39) |
V133A |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,931,875 (GRCm39) |
Y848N |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,026,270 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ltn1 |
T |
G |
16: 87,212,569 (GRCm39) |
H664P |
probably benign |
Het |
| Lypd6 |
C |
T |
2: 50,063,613 (GRCm39) |
T40I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,311,380 (GRCm39) |
T1817S |
probably benign |
Het |
| Nub1 |
A |
C |
5: 24,907,439 (GRCm39) |
Y350S |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,874 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Ptpru |
C |
T |
4: 131,515,688 (GRCm39) |
E827K |
possibly damaging |
Het |
| Rap1a |
A |
G |
3: 105,653,252 (GRCm39) |
Y32H |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,527,832 (GRCm39) |
N1143S |
possibly damaging |
Het |
| Rbl1 |
T |
C |
2: 157,003,353 (GRCm39) |
T859A |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,906,188 (GRCm39) |
L117P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,025,926 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
C |
3: 15,886,240 (GRCm39) |
M379V |
probably benign |
Het |
| Slc6a4 |
C |
T |
11: 76,910,062 (GRCm39) |
T439M |
probably damaging |
Het |
| Srsf12 |
G |
T |
4: 33,230,929 (GRCm39) |
R141L |
probably damaging |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Tcstv2c |
G |
A |
13: 120,616,449 (GRCm39) |
S96N |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,370,119 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,815,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,557,188 (GRCm39) |
E812G |
probably damaging |
Het |
| Trmt10b |
T |
A |
4: 45,314,236 (GRCm39) |
|
probably benign |
Het |
| Wapl |
A |
G |
14: 34,414,277 (GRCm39) |
T380A |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,255,914 (GRCm39) |
T829S |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,857,479 (GRCm39) |
P666L |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,049 (GRCm39) |
T150A |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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'- AACACCAGTCAGTCTAGTGC -3'
(R):5'- TACAAGTTCTGGCCAGCTC -3'
Sequencing Primer
(F):5'- TACATGAGGCTTGTACCCTACAGAG -3'
(R):5'- GGCCAGCTCCTACATTGCATAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation