Incidental Mutation 'R2166:Gm973'
ID |
235475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm973
|
Ensembl Gene |
ENSMUSG00000047361 |
Gene Name |
predicted gene 973 |
Synonyms |
LOC381260 |
MMRRC Submission |
040169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R2166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59565898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 39
(D39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
[ENSMUST00000186434]
|
AlphaFold |
E9Q295 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114243
AA Change: D39G
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109881 Gene: ENSMUSG00000047361 AA Change: D39G
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 benign
Transcript: ENSMUST00000186434
AA Change: D38G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.1276 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
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 |
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 |
|
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 |
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'- CAAACAGTGTTTGCTGCAGAAG -3'
(R):5'- AAGGTCCTGCTTCTTCCTGG -3'
Sequencing Primer
(F):5'- TCCTTTGCACAGGTAGAGC -3'
(R):5'- GGGACCTCTTTTCCTGTCTCTGG -3'
|
Posted On |
2014-10-01 |