Incidental Mutation 'IGL02818:Gm973'
ID |
360895 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm973
|
Ensembl Gene |
ENSMUSG00000047361 |
Gene Name |
predicted gene 973 |
Synonyms |
LOC381260 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL02818
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 59580634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
[ENSMUST00000114243]
[ENSMUST00000186434]
[ENSMUST00000186434]
|
AlphaFold |
E9Q295 |
Predicted Effect |
probably null
Transcript: ENSMUST00000114243
|
SMART Domains |
Protein: ENSMUSP00000109881 Gene: ENSMUSG00000047361
Domain | Start | End | E-Value | Type |
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114243
|
SMART Domains |
Protein: ENSMUSP00000109881 Gene: ENSMUSG00000047361
Domain | Start | End | E-Value | Type |
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185291
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186434
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189864
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191318
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,519,326 (GRCm39) |
F653S |
probably benign |
Het |
Acsm2 |
A |
G |
7: 119,172,804 (GRCm39) |
|
probably null |
Het |
Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
Ankfn1 |
G |
A |
11: 89,429,292 (GRCm39) |
H31Y |
probably benign |
Het |
BC016579 |
A |
T |
16: 45,449,865 (GRCm39) |
S184R |
probably damaging |
Het |
Cd101 |
A |
G |
3: 100,919,245 (GRCm39) |
L619P |
probably damaging |
Het |
Clec14a |
A |
T |
12: 58,314,888 (GRCm39) |
C245S |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,103,521 (GRCm39) |
C247R |
probably damaging |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,169,496 (GRCm39) |
S637P |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,690,331 (GRCm39) |
I230K |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,329,968 (GRCm39) |
Y3271H |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 76,996,174 (GRCm39) |
I1129N |
probably damaging |
Het |
Gaa |
G |
T |
11: 119,167,674 (GRCm39) |
A445S |
probably damaging |
Het |
Gldc |
A |
G |
19: 30,113,909 (GRCm39) |
S498P |
probably damaging |
Het |
Hpdl |
T |
C |
4: 116,677,439 (GRCm39) |
I341V |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,463,078 (GRCm39) |
|
probably null |
Het |
Kif9 |
T |
A |
9: 110,314,217 (GRCm39) |
Y76N |
probably damaging |
Het |
Lct |
T |
G |
1: 128,227,905 (GRCm39) |
E1196A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,392,132 (GRCm39) |
I1098V |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,316,601 (GRCm39) |
|
probably null |
Het |
Nmrk1 |
T |
C |
19: 18,618,623 (GRCm39) |
L102P |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,100,635 (GRCm39) |
|
probably benign |
Het |
Ogdh |
A |
G |
11: 6,298,270 (GRCm39) |
T603A |
probably benign |
Het |
Or12j2 |
A |
T |
7: 139,916,519 (GRCm39) |
Y248F |
possibly damaging |
Het |
Or8k38 |
T |
A |
2: 86,488,128 (GRCm39) |
I225F |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,158,626 (GRCm39) |
Y542C |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,545,862 (GRCm39) |
W88R |
probably damaging |
Het |
Ppp1r1b |
C |
T |
11: 98,242,096 (GRCm39) |
T21I |
possibly damaging |
Het |
Srebf2 |
C |
A |
15: 82,069,575 (GRCm39) |
H706N |
probably damaging |
Het |
Stradb |
T |
C |
1: 59,019,121 (GRCm39) |
V14A |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,943,848 (GRCm39) |
S988R |
possibly damaging |
Het |
Trpm6 |
C |
A |
19: 18,843,621 (GRCm39) |
Q1662K |
probably benign |
Het |
Utp3 |
T |
A |
5: 88,703,267 (GRCm39) |
Y265* |
probably null |
Het |
Vwf |
A |
G |
6: 125,640,511 (GRCm39) |
T2316A |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,150,841 (GRCm39) |
F185L |
probably benign |
Het |
Zwilch |
G |
A |
9: 64,057,509 (GRCm39) |
T395I |
probably damaging |
Het |
|
Other mutations in Gm973 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Gm973
|
APN |
1 |
59,669,438 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01732:Gm973
|
APN |
1 |
59,669,396 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02124:Gm973
|
APN |
1 |
59,621,632 (GRCm39) |
nonsense |
probably null |
|
IGL02251:Gm973
|
APN |
1 |
59,621,582 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03385:Gm973
|
APN |
1 |
59,621,629 (GRCm39) |
missense |
probably benign |
0.14 |
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
R0280:Gm973
|
UTSW |
1 |
59,583,839 (GRCm39) |
frame shift |
probably null |
|
R0490:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
R0491:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
R0508:Gm973
|
UTSW |
1 |
59,621,649 (GRCm39) |
splice site |
probably benign |
|
R0636:Gm973
|
UTSW |
1 |
59,590,303 (GRCm39) |
missense |
probably benign |
0.13 |
R0709:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
R0900:Gm973
|
UTSW |
1 |
59,605,827 (GRCm39) |
missense |
probably benign |
0.00 |
R1758:Gm973
|
UTSW |
1 |
59,673,169 (GRCm39) |
missense |
unknown |
|
R1816:Gm973
|
UTSW |
1 |
59,621,558 (GRCm39) |
missense |
probably damaging |
0.99 |
R1975:Gm973
|
UTSW |
1 |
59,601,930 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2166:Gm973
|
UTSW |
1 |
59,565,898 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3052:Gm973
|
UTSW |
1 |
59,672,299 (GRCm39) |
splice site |
probably benign |
|
R3899:Gm973
|
UTSW |
1 |
59,664,299 (GRCm39) |
missense |
probably benign |
0.00 |
R4181:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4302:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4623:Gm973
|
UTSW |
1 |
59,595,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Gm973
|
UTSW |
1 |
59,597,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Gm973
|
UTSW |
1 |
59,591,713 (GRCm39) |
nonsense |
probably null |
|
R4920:Gm973
|
UTSW |
1 |
59,666,725 (GRCm39) |
missense |
probably benign |
|
R4951:Gm973
|
UTSW |
1 |
59,580,633 (GRCm39) |
critical splice donor site |
probably null |
|
R5214:Gm973
|
UTSW |
1 |
59,565,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R5225:Gm973
|
UTSW |
1 |
59,601,859 (GRCm39) |
missense |
probably benign |
0.01 |
R5472:Gm973
|
UTSW |
1 |
59,667,446 (GRCm39) |
splice site |
probably null |
|
R5554:Gm973
|
UTSW |
1 |
59,566,131 (GRCm39) |
missense |
probably benign |
0.09 |
R5709:Gm973
|
UTSW |
1 |
59,591,714 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5886:Gm973
|
UTSW |
1 |
59,597,409 (GRCm39) |
intron |
probably benign |
|
R6044:Gm973
|
UTSW |
1 |
59,667,393 (GRCm39) |
missense |
probably benign |
|
R6046:Gm973
|
UTSW |
1 |
59,671,509 (GRCm39) |
missense |
unknown |
|
R6818:Gm973
|
UTSW |
1 |
59,669,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R6920:Gm973
|
UTSW |
1 |
59,591,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6999:Gm973
|
UTSW |
1 |
59,673,251 (GRCm39) |
missense |
unknown |
|
R7214:Gm973
|
UTSW |
1 |
59,601,888 (GRCm39) |
nonsense |
probably null |
|
R7418:Gm973
|
UTSW |
1 |
59,565,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R7780:Gm973
|
UTSW |
1 |
59,597,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R8834:Gm973
|
UTSW |
1 |
59,563,820 (GRCm39) |
missense |
|
|
R9083:Gm973
|
UTSW |
1 |
59,675,317 (GRCm39) |
missense |
|
|
R9206:Gm973
|
UTSW |
1 |
59,591,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9297:Gm973
|
UTSW |
1 |
59,583,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R9519:Gm973
|
UTSW |
1 |
59,580,611 (GRCm39) |
missense |
probably benign |
0.29 |
R9701:Gm973
|
UTSW |
1 |
59,566,032 (GRCm39) |
missense |
possibly damaging |
0.61 |
Z1176:Gm973
|
UTSW |
1 |
59,563,761 (GRCm39) |
start gained |
probably benign |
|
Z1177:Gm973
|
UTSW |
1 |
59,580,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-12-18 |