Incidental Mutation 'R3615:Gm597'
| ID |
268414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28776575 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 792
(D792G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: D792G
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: D792G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
129 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
137 |
472 |
8.1e-14 |
PFAM |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
718 |
807 |
1.4e-5 |
PROSPERO |
|
internal_repeat_1
|
807 |
894 |
1.4e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
A |
G |
4: 42,971,864 (GRCm38) |
N399S |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,558,294 (GRCm38) |
T818A |
probably benign |
Het |
| Aasdh |
A |
G |
5: 76,888,782 (GRCm38) |
V304A |
probably benign |
Het |
| Angptl3 |
G |
A |
4: 99,034,465 (GRCm38) |
A248T |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,324,565 (GRCm38) |
C112S |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 114,136,887 (GRCm38) |
I549N |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,911,550 (GRCm38) |
D161N |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,942 (GRCm38) |
V821A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,920,035 (GRCm38) |
P46S |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,315,148 (GRCm38) |
L247P |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 66,834,370 (GRCm38) |
H107L |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,937,063 (GRCm38) |
L869S |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,920,095 (GRCm38) |
Y160C |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,504,447 (GRCm38) |
N1197Y |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,312,989 (GRCm38) |
I944V |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,582,815 (GRCm38) |
V343A |
possibly damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,743,760 (GRCm38) |
Y105* |
probably null |
Het |
| Fiz1 |
A |
G |
7: 5,008,172 (GRCm38) |
L449P |
probably benign |
Het |
| Foxi2 |
T |
A |
7: 135,410,451 (GRCm38) |
C23S |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,944,957 (GRCm38) |
R212Q |
probably damaging |
Het |
| Gm5105 |
C |
A |
3: 138,049,688 (GRCm38) |
A46S |
unknown |
Het |
| Grik5 |
C |
T |
7: 25,022,571 (GRCm38) |
A581T |
probably benign |
Het |
| Gse1 |
C |
G |
8: 120,572,742 (GRCm38) |
|
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 (GRCm38) |
M1L |
possibly damaging |
Het |
| Krt25 |
A |
C |
11: 99,317,298 (GRCm38) |
V368G |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,033,287 (GRCm38) |
V269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,251,150 (GRCm38) |
K417E |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,865,914 (GRCm38) |
M75T |
probably benign |
Het |
| Nlrp10 |
A |
G |
7: 108,924,476 (GRCm38) |
F599S |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,240,575 (GRCm38) |
M436L |
probably benign |
Het |
| Olfr142 |
T |
C |
2: 90,252,409 (GRCm38) |
E193G |
possibly damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,690,232 (GRCm38) |
S57F |
probably damaging |
Het |
| Pla2g2e |
G |
A |
4: 138,880,374 (GRCm38) |
V22I |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,717,270 (GRCm38) |
E202G |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 23,872,831 (GRCm38) |
T258A |
probably benign |
Het |
| Prss34 |
A |
G |
17: 25,298,846 (GRCm38) |
E65G |
probably benign |
Het |
| Psap |
A |
G |
10: 60,294,603 (GRCm38) |
N149S |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,237,883 (GRCm38) |
A275T |
probably benign |
Het |
| Sem1 |
A |
G |
6: 6,578,520 (GRCm38) |
L12P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 110,844,523 (GRCm38) |
Y4H |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,137,705 (GRCm38) |
R7L |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,653,570 (GRCm38) |
L397Q |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,336,451 (GRCm38) |
S10G |
possibly damaging |
Het |
| Tas2r102 |
C |
T |
6: 132,762,818 (GRCm38) |
Q230* |
probably null |
Het |
| Tdo2 |
A |
G |
3: 81,975,428 (GRCm38) |
Y13H |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 111,918,313 (GRCm38) |
R187H |
possibly damaging |
Het |
| Tmem30b |
A |
G |
12: 73,545,579 (GRCm38) |
M254T |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 64,243,570 (GRCm38) |
G1057R |
probably damaging |
Het |
| Tusc3 |
A |
T |
8: 39,164,838 (GRCm38) |
K347N |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Vash2 |
T |
C |
1: 190,970,419 (GRCm38) |
Y117C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,489,866 (GRCm38) |
I235T |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,793,939 (GRCm38) |
T420A |
probably benign |
Het |
|
| Other mutations in Gm597 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Gm597
|
APN |
1 |
28,778,651 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00885:Gm597
|
APN |
1 |
28,776,845 (GRCm38) |
missense |
unknown |
|
|
IGL01296:Gm597
|
APN |
1 |
28,777,056 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01476:Gm597
|
APN |
1 |
28,777,453 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02125:Gm597
|
APN |
1 |
28,776,338 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02410:Gm597
|
APN |
1 |
28,778,631 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02982:Gm597
|
APN |
1 |
28,778,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03031:Gm597
|
APN |
1 |
28,778,583 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03267:Gm597
|
APN |
1 |
28,777,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0294:Gm597
|
UTSW |
1 |
28,778,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0433:Gm597
|
UTSW |
1 |
28,777,342 (GRCm38) |
nonsense |
probably null |
|
|
R0485:Gm597
|
UTSW |
1 |
28,778,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0645:Gm597
|
UTSW |
1 |
28,776,930 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0744:Gm597
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0836:Gm597
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1036:Gm597
|
UTSW |
1 |
28,777,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1302:Gm597
|
UTSW |
1 |
28,776,340 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1394:Gm597
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1395:Gm597
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1514:Gm597
|
UTSW |
1 |
28,778,748 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1535:Gm597
|
UTSW |
1 |
28,777,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2004:Gm597
|
UTSW |
1 |
28,777,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2021:Gm597
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2022:Gm597
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3115:Gm597
|
UTSW |
1 |
28,776,329 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3616:Gm597
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3862:Gm597
|
UTSW |
1 |
28,777,641 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4067:Gm597
|
UTSW |
1 |
28,777,631 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4119:Gm597
|
UTSW |
1 |
28,777,973 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4415:Gm597
|
UTSW |
1 |
28,777,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5010:Gm597
|
UTSW |
1 |
28,777,862 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5109:Gm597
|
UTSW |
1 |
28,777,555 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5122:Gm597
|
UTSW |
1 |
28,780,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5533:Gm597
|
UTSW |
1 |
28,778,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6085:Gm597
|
UTSW |
1 |
28,778,227 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6116:Gm597
|
UTSW |
1 |
28,778,699 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6750:Gm597
|
UTSW |
1 |
28,777,414 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6757:Gm597
|
UTSW |
1 |
28,780,110 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6774:Gm597
|
UTSW |
1 |
28,776,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7156:Gm597
|
UTSW |
1 |
28,776,767 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7365:Gm597
|
UTSW |
1 |
28,780,152 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7739:Gm597
|
UTSW |
1 |
28,777,608 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7996:Gm597
|
UTSW |
1 |
28,778,406 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8082:Gm597
|
UTSW |
1 |
28,777,498 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8281:Gm597
|
UTSW |
1 |
28,778,144 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8514:Gm597
|
UTSW |
1 |
28,778,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8944:Gm597
|
UTSW |
1 |
28,777,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9042:Gm597
|
UTSW |
1 |
28,776,956 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9101:Gm597
|
UTSW |
1 |
28,776,659 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9106:Gm597
|
UTSW |
1 |
28,776,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9173:Gm597
|
UTSW |
1 |
28,777,349 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9596:Gm597
|
UTSW |
1 |
28,776,607 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9632:Gm597
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9656:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9659:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9661:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9663:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9710:Gm597
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAATCATTAGTGGACCACGG -3'
(R):5'- TGAGGAGCACAGTCAACATTTC -3'
Sequencing Primer
(F):5'- ATTAGTGGACCACGGCCCAC -3'
(R):5'- GGAGCACAGTCAACATTTCAAGTAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation