Incidental Mutation 'R1394:Gm597'
| ID |
162719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
039456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1394 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28776809 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 714
(E714G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059937
AA Change: E714G
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: E714G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,101,496 (GRCm38) |
Y122H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,615,869 (GRCm38) |
F481S |
possibly damaging |
Het |
| Casd1 |
T |
G |
6: 4,624,117 (GRCm38) |
C303W |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,266,980 (GRCm38) |
R438Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,858,921 (GRCm38) |
T1957A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,537,529 (GRCm38) |
S1224P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,403,419 (GRCm38) |
|
probably null |
Het |
| Cwc22 |
G |
A |
2: 77,929,479 (GRCm38) |
R75C |
possibly damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,470,892 (GRCm38) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,972,364 (GRCm38) |
D3298G |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,393,719 (GRCm38) |
I450T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,165,155 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,636,509 (GRCm38) |
E2195K |
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,253,071 (GRCm38) |
D970E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 28,093,379 (GRCm38) |
H936R |
probably damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,327,872 (GRCm38) |
M440L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,072,912 (GRCm38) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,820,330 (GRCm38) |
S32L |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,417,778 (GRCm38) |
A488T |
probably damaging |
Het |
| Ift81 |
G |
T |
5: 122,568,923 (GRCm38) |
D485E |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,537,912 (GRCm38) |
L548* |
probably null |
Het |
| Itm2a |
C |
T |
X: 107,398,201 (GRCm38) |
V200I |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,428,164 (GRCm38) |
N1182S |
probably damaging |
Het |
| Mkks |
C |
T |
2: 136,880,962 (GRCm38) |
G92S |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,443,648 (GRCm38) |
P243L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,583,740 (GRCm38) |
D386G |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,492,665 (GRCm38) |
S109G |
probably damaging |
Het |
| Olfr12 |
T |
A |
1: 92,620,545 (GRCm38) |
I213N |
probably benign |
Het |
| Olfr1347 |
T |
A |
7: 6,488,362 (GRCm38) |
T171S |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,281,189 (GRCm38) |
|
probably null |
Het |
| Phlpp1 |
T |
C |
1: 106,350,618 (GRCm38) |
V920A |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 109,877,030 (GRCm38) |
C109* |
probably null |
Het |
| Prickle2 |
T |
A |
6: 92,376,382 (GRCm38) |
H701L |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,724,572 (GRCm38) |
G209R |
probably damaging |
Het |
| Psg19 |
T |
C |
7: 18,797,058 (GRCm38) |
N57S |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,209,065 (GRCm38) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,417,794 (GRCm38) |
A360S |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,640,965 (GRCm38) |
K766M |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,312,004 (GRCm38) |
T191A |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,144,481 (GRCm38) |
Y179H |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,206,539 (GRCm38) |
T673A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,276,400 (GRCm38) |
M1508L |
probably benign |
Het |
| Vasn |
C |
T |
16: 4,649,712 (GRCm38) |
R508* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,294,148 (GRCm38) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,796,059 (GRCm38) |
C645G |
probably damaging |
Het |
| Zfand1 |
G |
T |
3: 10,346,209 (GRCm38) |
T62K |
probably benign |
Het |
| Zfy1 |
C |
T |
Y: 725,957 (GRCm38) |
V603I |
possibly damaging |
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 |
|
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 |
|
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'- ACCGGACTGCTGCTTGTTACCATC -3'
(R):5'- ACAAGACCAGGCCCAGAATACTGTG -3'
Sequencing Primer
(F):5'- CTCCTCTGTAACTACAAGGATAGTC -3'
(R):5'- TTTGAAACGTGGAGGCATAAACTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation