Incidental Mutation 'R0900:Gm973'
| ID |
83821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm973
|
| Ensembl Gene |
ENSMUSG00000047361 |
| Gene Name |
predicted gene 973 |
| Synonyms |
LOC381260 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0900 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59605827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 553
(R553G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
|
| AlphaFold |
E9Q295 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114243
AA Change: R553G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: R553G
| 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: ENSMUST00000186310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187979
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,359 (GRCm39) |
F144I |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,719,496 (GRCm39) |
R468G |
possibly damaging |
Het |
| Arsk |
C |
A |
13: 76,246,576 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,833,039 (GRCm39) |
H912R |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,371 (GRCm39) |
V53D |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,156,764 (GRCm39) |
S47L |
possibly damaging |
Het |
| Clec2d |
G |
A |
6: 129,160,076 (GRCm39) |
R30K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,591,535 (GRCm39) |
V975A |
possibly damaging |
Het |
| Col4a1 |
AGCCAGGGATGCCAGG |
AGCCAGG |
8: 11,268,014 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,969,263 (GRCm39) |
S907P |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,498,794 (GRCm39) |
H159L |
possibly damaging |
Het |
| Dhx57 |
T |
C |
17: 80,583,011 (GRCm39) |
H198R |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,311 (GRCm39) |
D10G |
probably damaging |
Het |
| Esp18 |
G |
A |
17: 39,719,023 (GRCm39) |
M7I |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam167a |
A |
G |
14: 63,689,828 (GRCm39) |
T42A |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
| Jag1 |
CTTT |
CTTTT |
2: 136,932,802 (GRCm39) |
|
probably null |
Het |
| Limk2 |
A |
G |
11: 3,300,731 (GRCm39) |
F204L |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,124,624 (GRCm39) |
D361G |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,252 (GRCm39) |
F21Y |
probably benign |
Het |
| Pcna-ps2 |
T |
A |
19: 9,261,487 (GRCm39) |
Y249N |
probably damaging |
Het |
| Prkce |
A |
T |
17: 86,932,886 (GRCm39) |
D622V |
probably damaging |
Het |
| Prss47 |
A |
C |
13: 65,197,208 (GRCm39) |
V176G |
possibly damaging |
Het |
| Prss55 |
C |
T |
14: 64,314,627 (GRCm39) |
R181H |
probably benign |
Het |
| Prtg |
A |
T |
9: 72,752,225 (GRCm39) |
I204L |
probably benign |
Het |
| Pura |
T |
C |
18: 36,420,720 (GRCm39) |
I169T |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,119,815 (GRCm39) |
T1750I |
probably benign |
Het |
| Slc25a26 |
T |
A |
6: 94,484,639 (GRCm39) |
S60T |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,682,804 (GRCm39) |
C614S |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,953,469 (GRCm39) |
N214S |
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,806,344 (GRCm39) |
Y329H |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,257 (GRCm39) |
K2E |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,710,757 (GRCm39) |
E2675D |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,321 (GRCm39) |
P267L |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,635 (GRCm39) |
Y194* |
probably null |
Het |
| Zfp750 |
T |
C |
11: 121,403,807 (GRCm39) |
E356G |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- TTCTAAATGCCCAGAGCTGCCACC -3'
(R):5'- TCTGTGTCAGAGAGCGGGAAAACC -3'
Sequencing Primer
(F):5'- GGACAATAGAGCCTTCTAAACTCTGG -3'
(R):5'- GAAAACCTGGCTGTTTCATGTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation