Incidental Mutation 'R3856:Gm5592'
| ID |
276162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
040902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3856 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 40807259 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: ENSMUST00000108009
|
| SMART Domains |
Protein: ENSMUSP00000103644
Gene: ENSMUSG00000078737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
425 |
524 |
5.6e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206490
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,292,882 (GRCm39) |
S469P |
possibly damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,757,927 (GRCm39) |
N787I |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,723,493 (GRCm39) |
T945A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,293,093 (GRCm39) |
I863N |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,548,019 (GRCm39) |
I891T |
probably benign |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,599 (GRCm39) |
T587A |
probably damaging |
Het |
| Atxn7l3 |
T |
C |
11: 102,184,729 (GRCm39) |
D128G |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,611,427 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ccdc60 |
A |
C |
5: 116,310,514 (GRCm39) |
C183G |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Cnst |
C |
T |
1: 179,407,279 (GRCm39) |
P109S |
probably benign |
Het |
| Crtc2 |
G |
T |
3: 90,169,877 (GRCm39) |
L509F |
probably damaging |
Het |
| Ctsr |
A |
T |
13: 61,309,750 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dffa |
A |
T |
4: 149,188,708 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eef2k |
T |
A |
7: 120,498,594 (GRCm39) |
C91* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,782,283 (GRCm39) |
D1336G |
probably damaging |
Het |
| F12 |
G |
A |
13: 55,569,035 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,789,445 (GRCm39) |
L555Q |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,698 (GRCm39) |
S840P |
probably damaging |
Het |
| Gadd45a |
C |
T |
6: 67,013,989 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gpr171 |
T |
C |
3: 59,005,506 (GRCm39) |
T90A |
probably damaging |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| H2-M10.6 |
T |
A |
17: 37,123,396 (GRCm39) |
I30N |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,739,821 (GRCm39) |
H698Q |
probably benign |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,010,428 (GRCm39) |
R605H |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,867 (GRCm39) |
V207E |
probably damaging |
Het |
| Pbp2 |
A |
G |
6: 135,287,143 (GRCm39) |
L68P |
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,728,995 (GRCm39) |
T547K |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,362 (GRCm39) |
|
probably benign |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Pudp |
T |
C |
18: 50,701,124 (GRCm39) |
N203S |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,015,717 (GRCm39) |
T737M |
probably damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,759 (GRCm39) |
N89S |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,248,539 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
C |
5: 89,380,698 (GRCm39) |
S1015R |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,803 (GRCm39) |
T412A |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,014,075 (GRCm39) |
D2116V |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,727,120 (GRCm39) |
F396L |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,439 (GRCm39) |
F133I |
possibly damaging |
Het |
| Zfp735 |
T |
C |
11: 73,602,282 (GRCm39) |
S409P |
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 |
|
|
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 |
|
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'- TTCAGAGTTCCTGGCCTTGC -3'
(R):5'- GTTCTTCCTCACCTGGTCAGAG -3'
Sequencing Primer
(F):5'- TTCCAGCTCCAAGCCTGG -3'
(R):5'- TGGTCAGAGGGGCCACTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation