Incidental Mutation 'R1731:Gm5592'
ID |
199315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5592
|
Ensembl Gene |
ENSMUSG00000072259 |
Gene Name |
predicted gene 5592 |
Synonyms |
|
MMRRC Submission |
039763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R1731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40937837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 373
(A373V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
AlphaFold |
Q3V0A6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097044
AA Change: A373V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000094809 Gene: ENSMUSG00000072259 AA Change: A373V
Domain | Start | End | E-Value | Type |
Pfam:DUF4629
|
435 |
580 |
6.1e-60 |
PFAM |
low complexity region
|
607 |
612 |
N/A |
INTRINSIC |
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206040
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206490
AA Change: A373V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
T |
A |
14: 68,762,805 (GRCm39) |
Y140F |
probably damaging |
Het |
Adgrl4 |
T |
G |
3: 151,246,623 (GRCm39) |
I641S |
possibly damaging |
Het |
Aqp9 |
A |
G |
9: 71,030,250 (GRCm39) |
I205T |
possibly damaging |
Het |
Arap3 |
C |
T |
18: 38,122,965 (GRCm39) |
V512I |
probably benign |
Het |
Atf2 |
C |
T |
2: 73,675,853 (GRCm39) |
G123E |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,965,330 (GRCm39) |
D708G |
possibly damaging |
Het |
Calcrl |
A |
G |
2: 84,175,512 (GRCm39) |
|
probably null |
Het |
Capzb |
T |
A |
4: 139,007,341 (GRCm39) |
W110R |
probably damaging |
Het |
Casp8ap2 |
A |
T |
4: 32,641,442 (GRCm39) |
N832I |
possibly damaging |
Het |
Cecr2 |
T |
A |
6: 120,735,141 (GRCm39) |
H764Q |
possibly damaging |
Het |
Cep131 |
T |
C |
11: 119,967,742 (GRCm39) |
|
probably null |
Het |
Ces2e |
T |
C |
8: 105,656,208 (GRCm39) |
V173A |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,408,591 (GRCm39) |
D944G |
probably benign |
Het |
Cyb5rl |
C |
A |
4: 106,938,110 (GRCm39) |
A189E |
probably damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,801,133 (GRCm39) |
S41P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,621,076 (GRCm39) |
L544P |
probably damaging |
Het |
Epha2 |
A |
G |
4: 141,049,063 (GRCm39) |
K640E |
possibly damaging |
Het |
Erap1 |
T |
A |
13: 74,814,241 (GRCm39) |
C8* |
probably null |
Het |
Fat3 |
A |
G |
9: 15,907,233 (GRCm39) |
V2923A |
probably benign |
Het |
Fat4 |
A |
T |
3: 38,945,459 (GRCm39) |
I1451F |
probably damaging |
Het |
Fcsk |
A |
T |
8: 111,621,455 (GRCm39) |
I163N |
probably damaging |
Het |
Fzd6 |
G |
A |
15: 38,894,722 (GRCm39) |
G296D |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,206,492 (GRCm39) |
M194L |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,853,652 (GRCm39) |
|
probably null |
Het |
Hira |
T |
A |
16: 18,751,764 (GRCm39) |
V521E |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,830,348 (GRCm39) |
L141S |
possibly damaging |
Het |
Idua |
A |
G |
5: 108,829,538 (GRCm39) |
D467G |
probably benign |
Het |
Ikzf4 |
G |
A |
10: 128,470,401 (GRCm39) |
P373L |
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,609 (GRCm39) |
E185G |
probably benign |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lpcat4 |
T |
C |
2: 112,074,188 (GRCm39) |
L250P |
probably damaging |
Het |
Lrrc49 |
A |
G |
9: 60,528,914 (GRCm39) |
Y281H |
probably damaging |
Het |
Mta2 |
C |
A |
19: 8,925,088 (GRCm39) |
|
probably null |
Het |
Myo15b |
T |
C |
11: 115,782,386 (GRCm39) |
I372T |
possibly damaging |
Het |
Myocd |
T |
A |
11: 65,091,714 (GRCm39) |
N76I |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,197,922 (GRCm39) |
Y1123N |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,652,972 (GRCm39) |
C1127S |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,488,891 (GRCm39) |
K190E |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,037,478 (GRCm39) |
H1918R |
probably damaging |
Het |
Pde2a |
T |
A |
7: 101,150,867 (GRCm39) |
Y272N |
probably damaging |
Het |
Phldb3 |
T |
C |
7: 24,318,660 (GRCm39) |
V313A |
probably benign |
Het |
Plch2 |
C |
T |
4: 155,091,451 (GRCm39) |
V116I |
possibly damaging |
Het |
Plod2 |
G |
A |
9: 92,466,657 (GRCm39) |
|
probably null |
Het |
Ppfibp2 |
T |
C |
7: 107,339,796 (GRCm39) |
Y730H |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,604,912 (GRCm39) |
E44G |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,642,438 (GRCm39) |
E787G |
probably damaging |
Het |
Rabep2 |
T |
A |
7: 126,043,444 (GRCm39) |
L448Q |
probably damaging |
Het |
Rbfox3 |
A |
G |
11: 118,387,762 (GRCm39) |
|
probably null |
Het |
Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf125 |
A |
G |
18: 21,110,873 (GRCm39) |
T44A |
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,426,046 (GRCm39) |
A1384S |
probably benign |
Het |
Selp |
T |
A |
1: 163,969,009 (GRCm39) |
C536* |
probably null |
Het |
Serpinb3c |
G |
A |
1: 107,199,504 (GRCm39) |
T339I |
probably damaging |
Het |
Slc4a5 |
C |
T |
6: 83,273,617 (GRCm39) |
R986C |
probably damaging |
Het |
Slc8b1 |
T |
C |
5: 120,659,180 (GRCm39) |
I208T |
probably benign |
Het |
Sp3 |
G |
A |
2: 72,776,999 (GRCm39) |
H533Y |
probably damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,698 (GRCm39) |
R1615G |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,333,460 (GRCm39) |
E802G |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,061,842 (GRCm39) |
V164A |
probably benign |
Het |
Vmn1r68 |
A |
G |
7: 10,261,802 (GRCm39) |
Y99H |
probably damaging |
Het |
Vmn1r87 |
T |
A |
7: 12,865,703 (GRCm39) |
T195S |
possibly damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,466,972 (GRCm39) |
T21A |
probably benign |
Het |
Zfp108 |
C |
A |
7: 23,957,964 (GRCm39) |
H34Q |
possibly damaging |
Het |
Zfp267 |
T |
A |
3: 36,218,620 (GRCm39) |
F214L |
probably benign |
Het |
Zfp456 |
C |
T |
13: 67,514,674 (GRCm39) |
S344N |
probably benign |
Het |
Zscan22 |
T |
C |
7: 12,640,907 (GRCm39) |
C384R |
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 |
|
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 |
|
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'- AGGTTTCCCAAATAAGGCCACCAG -3'
(R):5'- GCTTTGCCATGTTGTCAATAGCCC -3'
Sequencing Primer
(F):5'- AGTCCTTCAGAGTTCCTGGC -3'
(R):5'- AATTTGGCCTGAGGAGCCC -3'
|
Posted On |
2014-05-23 |