Incidental Mutation 'R0280:Gm973'
ID |
66492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm973
|
Ensembl Gene |
ENSMUSG00000047361 |
Gene Name |
predicted gene 973 |
Synonyms |
LOC381260 |
MMRRC Submission |
038502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R0280 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCC to GC
at 59583839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
[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 |
noncoding transcript
Transcript: ENSMUST00000185291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186310
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189864
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191318
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
Ankrd16 |
T |
G |
2: 11,786,312 (GRCm39) |
V187G |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,243,133 (GRCm39) |
V339A |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
Plcl2 |
A |
G |
17: 50,914,062 (GRCm39) |
E357G |
probably damaging |
Het |
Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
probably benign |
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 |
IGL02818:Gm973
|
APN |
1 |
59,580,634 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |