Incidental Mutation 'R9042:Gm597'
| ID |
687761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
068869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9042 (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 28776956 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 665
(Q665R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059937
AA Change: Q665R
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: Q665R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
A |
G |
10: 82,287,351 (GRCm38) |
I3275T |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,152,048 (GRCm38) |
K208R |
probably benign |
Het |
| Amh |
T |
C |
10: 80,806,609 (GRCm38) |
M242T |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,838,762 (GRCm38) |
Y440C |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,561,265 (GRCm38) |
E499* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,905,997 (GRCm38) |
I967V |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,337,290 (GRCm38) |
T341A |
probably benign |
Het |
| Cyp26b1 |
T |
A |
6: 84,576,608 (GRCm38) |
Y263F |
probably benign |
Het |
| Ecm2 |
C |
A |
13: 49,528,963 (GRCm38) |
Y489* |
probably null |
Het |
| Gpr22 |
C |
A |
12: 31,709,854 (GRCm38) |
V90L |
probably benign |
Het |
| Grip1 |
G |
A |
10: 120,000,533 (GRCm38) |
V516M |
probably benign |
Het |
| Ipo5 |
C |
T |
14: 120,923,135 (GRCm38) |
S188L |
probably benign |
Het |
| Kcnh6 |
T |
A |
11: 106,017,638 (GRCm38) |
I360N |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,502,017 (GRCm38) |
D512Y |
|
Het |
| Lrpprc |
C |
T |
17: 84,752,308 (GRCm38) |
|
probably null |
Het |
| Lta4h |
A |
G |
10: 93,482,988 (GRCm38) |
K547R |
probably benign |
Het |
| Nacad |
G |
C |
11: 6,598,948 (GRCm38) |
P1340R |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,179,338 (GRCm38) |
K495E |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 78,938,539 (GRCm38) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 77,050,651 (GRCm38) |
V77A |
probably benign |
Het |
| Olfr1087 |
T |
C |
2: 86,690,795 (GRCm38) |
Y60C |
probably damaging |
Het |
| Olfr161 |
A |
T |
16: 3,593,268 (GRCm38) |
S291C |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,218,035 (GRCm38) |
V73A |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,683,667 (GRCm38) |
T231I |
probably benign |
Het |
| Parp11 |
C |
A |
6: 127,471,652 (GRCm38) |
Y77* |
probably null |
Het |
| Phc3 |
T |
A |
3: 30,929,767 (GRCm38) |
T712S |
unknown |
Het |
| Pkm |
T |
A |
9: 59,671,937 (GRCm38) |
I335N |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,393,569 (GRCm38) |
T417A |
probably benign |
Het |
| Pot1b |
C |
T |
17: 55,699,991 (GRCm38) |
|
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,374,692 (GRCm38) |
|
probably null |
Het |
| Psg18 |
A |
T |
7: 18,349,122 (GRCm38) |
N369K |
probably benign |
Het |
| Pum3 |
T |
A |
19: 27,422,391 (GRCm38) |
Y214F |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,048,038 (GRCm38) |
T637M |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,615,655 (GRCm38) |
Y368F |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,116,103 (GRCm38) |
D45G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,272,001 (GRCm38) |
L263F |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,045,553 (GRCm38) |
V444I |
probably damaging |
Het |
| Slc40a1 |
C |
T |
1: 45,909,461 (GRCm38) |
G553D |
probably benign |
Het |
| Taf7 |
C |
A |
18: 37,643,170 (GRCm38) |
D115Y |
probably damaging |
Het |
| Tanc1 |
G |
C |
2: 59,843,422 (GRCm38) |
A1624P |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,274,405 (GRCm38) |
D85G |
probably benign |
Het |
| Tmed6 |
A |
G |
8: 107,063,753 (GRCm38) |
V138A |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,666,591 (GRCm38) |
T370A |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,836,109 (GRCm38) |
T91A |
probably benign |
Het |
| Ube4b |
C |
G |
4: 149,360,376 (GRCm38) |
A476P |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,581,508 (GRCm38) |
C795R |
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 |
|
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'- ATGTTGACTGTGCTCCTCAG -3'
(R):5'- GGCCAAGGAAACCTACACATTG -3'
Sequencing Primer
(F):5'- AGGACTCCTGTGGCTACTG -3'
(R):5'- GGAAACCTACACATTGAAAGTAAAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation