Incidental Mutation 'R8514:Gm597'
| ID |
656005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
067945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28778505 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 149
(V149M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059937
AA Change: V149M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: V149M
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
A |
G |
7: 19,758,541 (GRCm38) |
V543A |
probably damaging |
Het |
| C330027C09Rik |
T |
C |
16: 48,997,447 (GRCm38) |
V60A |
possibly damaging |
Het |
| Capn1 |
T |
C |
19: 5,997,824 (GRCm38) |
E403G |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,352,735 (GRCm38) |
F186L |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,230,633 (GRCm38) |
Q13R |
unknown |
Het |
| Ckap2l |
G |
T |
2: 129,285,868 (GRCm38) |
A130E |
possibly damaging |
Het |
| Creld1 |
C |
T |
6: 113,492,869 (GRCm38) |
R411C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,658,787 (GRCm38) |
S167T |
probably benign |
Het |
| Emc10 |
G |
T |
7: 44,493,222 (GRCm38) |
Q99K |
probably damaging |
Het |
| Fam26f |
G |
A |
10: 34,126,403 (GRCm38) |
T228I |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,085,356 (GRCm38) |
I1287L |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,957,510 (GRCm38) |
Y171F |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTG |
1: 88,503,320 (GRCm38) |
|
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,555,796 (GRCm38) |
V662A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,023,398 (GRCm38) |
V286A |
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,443,339 (GRCm38) |
E293G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,695,717 (GRCm38) |
V847A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,413,562 (GRCm38) |
C317R |
unknown |
Het |
| Mdn1 |
T |
A |
4: 32,739,857 (GRCm38) |
Y3704N |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,716,222 (GRCm38) |
R422L |
probably damaging |
Het |
| Mndal |
T |
C |
1: 173,860,192 (GRCm38) |
D492G |
possibly damaging |
Het |
| Myom2 |
C |
T |
8: 15,125,153 (GRCm38) |
P1244L |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,472,169 (GRCm38) |
C1025R |
probably damaging |
Het |
| Nthl1 |
G |
A |
17: 24,634,115 (GRCm38) |
V98M |
probably damaging |
Het |
| Olfr1145 |
A |
T |
2: 87,810,710 (GRCm38) |
I297F |
probably damaging |
Het |
| Olfr1234 |
T |
C |
2: 89,363,229 (GRCm38) |
I67V |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,776,359 (GRCm38) |
D101G |
probably null |
Het |
| Phtf2 |
T |
C |
5: 20,802,032 (GRCm38) |
R178G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,568,786 (GRCm38) |
|
probably null |
Het |
| Platr25 |
T |
C |
13: 62,700,772 (GRCm38) |
Y92C |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 112,834,928 (GRCm38) |
D43V |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,454,645 (GRCm38) |
T759I |
unknown |
Het |
| Pros1 |
A |
G |
16: 62,910,109 (GRCm38) |
T321A |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,678,939 (GRCm38) |
Q882* |
probably null |
Het |
| Rasa3 |
A |
C |
8: 13,581,322 (GRCm38) |
F533V |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,754,027 (GRCm38) |
I165F |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,593,873 (GRCm38) |
V511I |
possibly damaging |
Het |
| Sdc3 |
A |
G |
4: 130,818,761 (GRCm38) |
T144A |
unknown |
Het |
| Slc9a9 |
T |
C |
9: 94,936,365 (GRCm38) |
F271L |
probably benign |
Het |
| Snrpa1 |
G |
A |
7: 66,070,633 (GRCm38) |
G195R |
probably benign |
Het |
| Tcerg1 |
T |
A |
18: 42,564,122 (GRCm38) |
D759E |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,373,110 (GRCm38) |
L893P |
probably damaging |
Het |
| Tex101 |
T |
A |
7: 24,668,532 (GRCm38) |
Q167L |
possibly damaging |
Het |
| Tnrc6a |
C |
T |
7: 123,184,215 (GRCm38) |
R970* |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,453,991 (GRCm38) |
S562P |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 5,073,399 (GRCm38) |
E546G |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 80,985,717 (GRCm38) |
Q563L |
probably benign |
Het |
| Vmn1r1 |
C |
T |
1: 182,157,573 (GRCm38) |
V176I |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,086,521 (GRCm38) |
K96R |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,764,568 (GRCm38) |
V817A |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,851,353 (GRCm38) |
C3066S |
possibly damaging |
Het |
| Yeats4 |
T |
C |
10: 117,215,755 (GRCm38) |
E199G |
possibly damaging |
Het |
| Zcchc11 |
T |
A |
4: 108,557,357 (GRCm38) |
W44R |
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 |
|
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 |
|
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'- TTCTACGGACCCTACACTGAAAAG -3'
(R):5'- ATATGGCCTGTGGAAAGCCC -3'
Sequencing Primer
(F):5'- GAGGTTTTCTTGTTCCTGAACC -3'
(R):5'- GGAAAGCCCAACTCAGTATCATTTAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation