Incidental Mutation 'IGL01981:Gm5592'
| ID |
183471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL01981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
41153841-41290183 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 41286371 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 99
(W99*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097044
AA Change: W99*
|
| SMART Domains |
Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: W99*
| 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 null
Transcript: ENSMUST00000206490
AA Change: W99*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921501E09Rik |
C |
T |
17: 33,067,654 |
G58E |
probably damaging |
Het |
| Akt2 |
A |
C |
7: 27,638,074 |
D417A |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 5,019,336 |
S231T |
possibly damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,601,573 |
T1377I |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 52,005,069 |
T48A |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,360,675 |
Y510C |
probably damaging |
Het |
| Chml |
A |
G |
1: 175,688,185 |
S57P |
probably damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,394,140 |
C367* |
probably null |
Het |
| D930020B18Rik |
A |
G |
10: 121,692,414 |
T428A |
probably damaging |
Het |
| Dnaja3 |
A |
T |
16: 4,701,169 |
I325F |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,571,650 |
V943A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,481 |
I300V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,431,193 |
E76G |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,095,464 |
T26M |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,392,899 |
L380P |
probably damaging |
Het |
| Fxr2 |
A |
C |
11: 69,650,502 |
I354L |
possibly damaging |
Het |
| Garnl3 |
G |
T |
2: 32,997,729 |
N756K |
probably damaging |
Het |
| Gimap1 |
A |
G |
6: 48,743,324 |
Y290C |
probably damaging |
Het |
| Gm11639 |
A |
T |
11: 104,721,432 |
|
probably benign |
Het |
| Hexdc |
G |
T |
11: 121,216,993 |
S183I |
possibly damaging |
Het |
| Hmg20a |
C |
T |
9: 56,477,230 |
P95S |
probably damaging |
Het |
| Jhy |
A |
T |
9: 40,895,546 |
I769N |
probably damaging |
Het |
| Lrrd1 |
G |
T |
5: 3,851,267 |
C524F |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,296,629 |
S76R |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,785,849 |
R613* |
probably null |
Het |
| Naa16 |
T |
A |
14: 79,381,516 |
E172D |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,834,921 |
M10K |
possibly damaging |
Het |
| Olfr1039 |
A |
T |
2: 86,130,830 |
Y278N |
probably benign |
Het |
| Pam |
C |
T |
1: 97,834,441 |
V700M |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,016,916 |
R1978L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,523,567 |
T1441S |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,403,047 |
|
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,750,100 |
L521P |
probably damaging |
Het |
| Pramef17 |
G |
A |
4: 143,994,354 |
P6S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,439,912 |
V1280E |
probably damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,164,782 |
S136P |
possibly damaging |
Het |
| Rtl1 |
C |
T |
12: 109,591,935 |
E1157K |
possibly damaging |
Het |
| Sell |
G |
A |
1: 164,065,626 |
R137Q |
probably benign |
Het |
| Shisa9 |
A |
T |
16: 12,244,658 |
M248L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,058,833 |
E1144G |
probably benign |
Het |
| Sphk2 |
G |
T |
7: 45,710,733 |
Q616K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,294,606 |
T207A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,996,598 |
T1885A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,375,768 |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 85,036,524 |
M622T |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,184,291 |
F160L |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 145,086,747 |
S3289G |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 33,133,716 |
F647S |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,261,450 |
L509P |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 106,027,499 |
E640G |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,105,409 |
I326N |
probably benign |
Het |
|
| Other mutations in Gm5592 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Gm5592
|
APN |
7 |
41,289,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01472:Gm5592
|
APN |
7 |
41,286,074 (GRCm38) |
splice site |
probably benign |
|
|
IGL01718:Gm5592
|
APN |
7 |
41,289,193 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02318:Gm5592
|
APN |
7 |
41,286,788 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02346:Gm5592
|
APN |
7 |
41,289,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02904:Gm5592
|
APN |
7 |
41,288,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
I1329:Gm5592
|
UTSW |
7 |
41,286,354 (GRCm38) |
nonsense |
probably null |
|
|
R0465:Gm5592
|
UTSW |
7 |
41,156,057 (GRCm38) |
intron |
probably benign |
|
|
R0669:Gm5592
|
UTSW |
7 |
41,155,830 (GRCm38) |
intron |
probably benign |
|
|
R0675:Gm5592
|
UTSW |
7 |
41,289,387 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1381:Gm5592
|
UTSW |
7 |
41,286,172 (GRCm38) |
missense |
probably benign |
|
|
R1731:Gm5592
|
UTSW |
7 |
41,288,413 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3149:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3150:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3176:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3177:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3276:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3277:Gm5592
|
UTSW |
7 |
41,288,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3623:Gm5592
|
UTSW |
7 |
41,157,628 (GRCm38) |
intron |
probably benign |
|
|
R3797:Gm5592
|
UTSW |
7 |
41,157,835 (GRCm38) |
intron |
probably benign |
|
|
R3854:Gm5592
|
UTSW |
7 |
41,157,835 (GRCm38) |
intron |
probably benign |
|
|
R3856:Gm5592
|
UTSW |
7 |
41,157,835 (GRCm38) |
intron |
probably benign |
|
|
R4009:Gm5592
|
UTSW |
7 |
41,289,510 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4010:Gm5592
|
UTSW |
7 |
41,286,628 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4011:Gm5592
|
UTSW |
7 |
41,289,510 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4127:Gm5592
|
UTSW |
7 |
41,289,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4162:Gm5592
|
UTSW |
7 |
41,217,778 (GRCm38) |
intron |
probably benign |
|
|
R4289:Gm5592
|
UTSW |
7 |
41,158,912 (GRCm38) |
intron |
probably benign |
|
|
R4304:Gm5592
|
UTSW |
7 |
41,286,262 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4332:Gm5592
|
UTSW |
7 |
41,216,118 (GRCm38) |
intron |
probably benign |
|
|
R4408:Gm5592
|
UTSW |
7 |
41,286,448 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4572:Gm5592
|
UTSW |
7 |
41,216,159 (GRCm38) |
intron |
probably benign |
|
|
R4764:Gm5592
|
UTSW |
7 |
41,216,118 (GRCm38) |
intron |
probably benign |
|
|
R4822:Gm5592
|
UTSW |
7 |
41,155,890 (GRCm38) |
intron |
probably benign |
|
|
R4836:Gm5592
|
UTSW |
7 |
41,215,534 (GRCm38) |
intron |
probably benign |
|
|
R4854:Gm5592
|
UTSW |
7 |
41,217,471 (GRCm38) |
intron |
probably benign |
|
|
R5032:Gm5592
|
UTSW |
7 |
41,289,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5075:Gm5592
|
UTSW |
7 |
41,158,963 (GRCm38) |
intron |
probably benign |
|
|
R5369:Gm5592
|
UTSW |
7 |
41,218,211 (GRCm38) |
intron |
probably benign |
|
|
R5424:Gm5592
|
UTSW |
7 |
41,155,593 (GRCm38) |
intron |
probably benign |
|
|
R5700:Gm5592
|
UTSW |
7 |
41,158,579 (GRCm38) |
intron |
probably benign |
|
|
R5741:Gm5592
|
UTSW |
7 |
41,289,201 (GRCm38) |
missense |
probably benign |
|
|
R5802:Gm5592
|
UTSW |
7 |
41,219,105 (GRCm38) |
intron |
probably benign |
|
|
R5945:Gm5592
|
UTSW |
7 |
41,215,612 (GRCm38) |
intron |
probably benign |
|
|
R6117:Gm5592
|
UTSW |
7 |
41,288,464 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6324:Gm5592
|
UTSW |
7 |
41,286,535 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6449:Gm5592
|
UTSW |
7 |
41,288,586 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6571:Gm5592
|
UTSW |
7 |
41,288,575 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6776:Gm5592
|
UTSW |
7 |
41,289,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7595:Gm5592
|
UTSW |
7 |
41,286,443 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7658:Gm5592
|
UTSW |
7 |
41,288,710 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7699:Gm5592
|
UTSW |
7 |
41,286,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7700:Gm5592
|
UTSW |
7 |
41,286,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7774:Gm5592
|
UTSW |
7 |
41,289,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7788:Gm5592
|
UTSW |
7 |
41,286,694 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7890:Gm5592
|
UTSW |
7 |
41,286,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8070:Gm5592
|
UTSW |
7 |
41,286,463 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8417:Gm5592
|
UTSW |
7 |
41,288,551 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8866:Gm5592
|
UTSW |
7 |
41,288,822 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9044:Gm5592
|
UTSW |
7 |
41,288,850 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9057:Gm5592
|
UTSW |
7 |
41,289,463 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9258:Gm5592
|
UTSW |
7 |
41,288,983 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9451:Gm5592
|
UTSW |
7 |
41,286,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9760:Gm5592
|
UTSW |
7 |
41,289,810 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
X0021:Gm5592
|
UTSW |
7 |
41,288,508 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Gm5592
|
UTSW |
7 |
41,288,681 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Gm5592
|
UTSW |
7 |
41,286,319 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1176:Gm5592
|
UTSW |
7 |
41,286,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation