Incidental Mutation 'R9106:Gm597'
| ID |
691989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28776894 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 686
(I686V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: I686V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: I686V
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
T |
C |
6: 149,328,870 (GRCm38) |
V1138A |
possibly damaging |
Het |
| Ahctf1 |
C |
A |
1: 179,787,036 (GRCm38) |
K394N |
probably benign |
Het |
| Armc4 |
A |
T |
18: 7,294,527 (GRCm38) |
S29T |
probably benign |
Het |
| Banp |
A |
T |
8: 121,978,633 (GRCm38) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,478,295 (GRCm38) |
E495G |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,640,190 (GRCm38) |
I158M |
possibly damaging |
Het |
| Cgnl1 |
C |
A |
9: 71,721,591 (GRCm38) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,615,160 (GRCm38) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,577,450 (GRCm38) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,604,597 (GRCm38) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,394,725 (GRCm38) |
L155P |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,616,338 (GRCm38) |
A238T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,144,769 (GRCm38) |
Y1410C |
probably damaging |
Het |
| Elmsan1 |
T |
C |
12: 84,152,553 (GRCm38) |
Y1040C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,946,226 (GRCm38) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,561,188 (GRCm38) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,532,695 (GRCm38) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,902,291 (GRCm38) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 88,074,539 (GRCm38) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,329,556 (GRCm38) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,378,039 (GRCm38) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,926,274 (GRCm38) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 37,054,934 (GRCm38) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,269,857 (GRCm38) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,629,589 (GRCm38) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,415,363 (GRCm38) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 80,727,828 (GRCm38) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,038,576 (GRCm38) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,258,868 (GRCm38) |
E219V |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm38) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 48,198,931 (GRCm38) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,174,941 (GRCm38) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,432,478 (GRCm38) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,848,704 (GRCm38) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,517,556 (GRCm38) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,382,412 (GRCm38) |
L630I |
probably benign |
Het |
| Olfr1201 |
A |
G |
2: 88,794,672 (GRCm38) |
T97A |
probably benign |
Het |
| Olfr243 |
G |
A |
7: 103,717,530 (GRCm38) |
C312Y |
probably benign |
Het |
| Olfr420 |
A |
G |
1: 174,158,803 (GRCm38) |
Q10R |
probably benign |
Het |
| Olfr635 |
A |
T |
7: 103,979,374 (GRCm38) |
M61L |
probably damaging |
Het |
| Oplah |
C |
A |
15: 76,305,676 (GRCm38) |
G150C |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,931,609 (GRCm38) |
K460R |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,046,028 (GRCm38) |
|
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,860,394 (GRCm38) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,194,789 (GRCm38) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,604,056 (GRCm38) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 77,549,729 (GRCm38) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,259,608 (GRCm38) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,596,434 (GRCm38) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,248,885 (GRCm38) |
I843V |
|
Het |
| Rnf19b |
A |
G |
4: 129,084,147 (GRCm38) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,754,349 (GRCm38) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 57,998,124 (GRCm38) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,991,170 (GRCm38) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,530,351 (GRCm38) |
Y483N |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,672,248 (GRCm38) |
T475A |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,212,632 (GRCm38) |
F110L |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,587,962 (GRCm38) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 7,931,448 (GRCm38) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,367,183 (GRCm38) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,167,597 (GRCm38) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,970,251 (GRCm38) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 112,082,506 (GRCm38) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,626,849 (GRCm38) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 42,046,460 (GRCm38) |
I176N |
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 |
|
R3615:Gm597
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
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 |
|
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'- CATTGATGCCTGAGTGCAGC -3'
(R):5'- CCAGGGATTTTGAAACGTGGAG -3'
Sequencing Primer
(F):5'- CCTGAGTGCAGCTTATGTTCAG -3'
(R):5'- ACGTGGAGGCATAAACTCTTTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation