Incidental Mutation 'R9101:Gm597'
| ID |
691662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
068915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9101 (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 A
at 28776659 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 764
(D764V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: D764V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: D764V
| 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: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900011O08Rik |
T |
A |
16: 14,049,395 (GRCm38) |
I39N |
probably damaging |
Het |
| AA792892 |
G |
A |
5: 94,384,040 (GRCm38) |
C261Y |
probably damaging |
Het |
| Adam6b |
T |
C |
12: 113,491,756 (GRCm38) |
V731A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,189,741 (GRCm38) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 13,823,444 (GRCm38) |
V388A |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,608,849 (GRCm38) |
Y113H |
possibly damaging |
Het |
| Aox2 |
C |
T |
1: 58,332,637 (GRCm38) |
P820L |
probably benign |
Het |
| Avil |
A |
G |
10: 127,017,004 (GRCm38) |
D731G |
probably benign |
Het |
| Blvra |
C |
T |
2: 127,085,970 (GRCm38) |
L47F |
probably damaging |
Het |
| Ccdc85c |
C |
A |
12: 108,274,658 (GRCm38) |
R159L |
unknown |
Het |
| Clcn2 |
T |
C |
16: 20,707,229 (GRCm38) |
D797G |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,613,982 (GRCm38) |
H319Q |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,544,306 (GRCm38) |
F619I |
possibly damaging |
Het |
| Dnajb1 |
C |
A |
8: 83,608,490 (GRCm38) |
D53E |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,941,543 (GRCm38) |
D89G |
probably damaging |
Het |
| Gck |
A |
G |
11: 5,906,516 (GRCm38) |
Y214H |
probably damaging |
Het |
| Gm9507 |
A |
G |
10: 77,811,816 (GRCm38) |
S10P |
unknown |
Het |
| Hacd2 |
G |
A |
16: 35,099,786 (GRCm38) |
V138I |
probably benign |
Het |
| Hhip |
A |
T |
8: 80,043,962 (GRCm38) |
V272D |
probably damaging |
Het |
| Hoga1 |
A |
C |
19: 42,059,908 (GRCm38) |
T72P |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 80,098,331 (GRCm38) |
|
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,151,155 (GRCm38) |
G414S |
probably damaging |
Het |
| Klk5 |
T |
A |
7: 43,850,781 (GRCm38) |
D264E |
probably benign |
Het |
| Lars |
G |
A |
18: 42,243,877 (GRCm38) |
R205C |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,997,570 (GRCm38) |
L12Q |
probably null |
Het |
| Marc2 |
T |
A |
1: 184,822,490 (GRCm38) |
R273W |
probably null |
Het |
| Mastl |
A |
G |
2: 23,118,437 (GRCm38) |
*866Q |
probably null |
Het |
| Mpzl3 |
T |
A |
9: 45,070,685 (GRCm38) |
M217K |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,900,453 (GRCm38) |
M7K |
probably benign |
Het |
| Nefh |
A |
G |
11: 4,940,925 (GRCm38) |
S565P |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,376,240 (GRCm38) |
R525Q |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,313,546 (GRCm38) |
L2632F |
|
Het |
| Olfr1022 |
A |
G |
2: 85,864,179 (GRCm38) |
|
probably benign |
Het |
| Olfr1143 |
T |
C |
2: 87,802,580 (GRCm38) |
Y60H |
probably damaging |
Het |
| Olfr1243 |
A |
T |
2: 89,528,377 (GRCm38) |
I11N |
possibly damaging |
Het |
| Olfr43 |
C |
T |
11: 74,206,496 (GRCm38) |
C240Y |
probably damaging |
Het |
| Olfr550 |
T |
C |
7: 102,578,930 (GRCm38) |
V145A |
probably benign |
Het |
| Olfr616 |
A |
T |
7: 103,564,473 (GRCm38) |
F269I |
possibly damaging |
Het |
| Olfr959 |
T |
A |
9: 39,572,509 (GRCm38) |
Y250F |
probably benign |
Het |
| Pcdhga6 |
T |
C |
18: 37,708,340 (GRCm38) |
V371A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,393,949 (GRCm38) |
K263E |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,803,945 (GRCm38) |
A1978T |
possibly damaging |
Het |
| Phykpl |
C |
A |
11: 51,592,914 (GRCm38) |
T207K |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,480,364 (GRCm38) |
C435S |
probably damaging |
Het |
| Pramef6 |
T |
A |
4: 143,897,076 (GRCm38) |
N176I |
probably benign |
Het |
| Prkra |
T |
A |
2: 76,647,840 (GRCm38) |
H6L |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,043,304 (GRCm38) |
K131E |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,145,243 (GRCm38) |
V762A |
probably benign |
Het |
| Prr27 |
C |
T |
5: 87,843,471 (GRCm38) |
T314I |
probably damaging |
Het |
| Ptges3 |
A |
G |
10: 128,072,129 (GRCm38) |
D116G |
possibly damaging |
Het |
| Rab11fip5 |
G |
T |
6: 85,340,693 (GRCm38) |
F1071L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,579,907 (GRCm38) |
|
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,977,437 (GRCm38) |
V66A |
possibly damaging |
Het |
| Ten1 |
A |
G |
11: 116,205,736 (GRCm38) |
Y72C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,292,151 (GRCm38) |
L1125S |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,725,807 (GRCm38) |
I159F |
possibly damaging |
Het |
| Tmppe |
T |
C |
9: 114,405,241 (GRCm38) |
S203P |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,537,575 (GRCm38) |
I203N |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,659,088 (GRCm38) |
L803P |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,574,209 (GRCm38) |
I733F |
|
Het |
| Xxylt1 |
T |
C |
16: 31,080,927 (GRCm38) |
N137D |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,323,602 (GRCm38) |
R544Q |
unknown |
Het |
| Zfhx4 |
C |
T |
3: 5,412,138 (GRCm38) |
T3271I |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 21,993,411 (GRCm38) |
C493S |
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 |
|
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 |
|
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'- GAATGAGTGCTTGTGCCAC -3'
(R):5'- AGAATCAGTGGAGGCATTCC -3'
Sequencing Primer
(F):5'- GCTTCCATGTGGAGAGTCTC -3'
(R):5'- AGGCATTCCAGCTAGTTGGCTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation