Incidental Mutation 'R5533:Gm597'
| ID |
433726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
043091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5533 (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 A
at 28778082 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 290
(I290F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059937
AA Change: I290F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: I290F
| 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: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 127,083,042 (GRCm38) |
E429G |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,357,405 (GRCm38) |
V1405D |
probably damaging |
Het |
| Akap7 |
C |
T |
10: 25,283,982 (GRCm38) |
D107N |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,199,727 (GRCm38) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,098,375 (GRCm38) |
|
probably null |
Het |
| Casc4 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,925,697 (GRCm38) |
|
probably benign |
Het |
| Ctsd |
T |
C |
7: 142,377,333 (GRCm38) |
Q274R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,186,471 (GRCm38) |
R1575Q |
probably damaging |
Het |
| Erich6b |
A |
T |
14: 75,658,834 (GRCm38) |
L53F |
possibly damaging |
Het |
| Exoc6 |
A |
C |
19: 37,593,770 (GRCm38) |
|
probably null |
Het |
| Fbxw19 |
A |
T |
9: 109,486,065 (GRCm38) |
V143E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,645,329 (GRCm38) |
A24T |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,772,776 (GRCm38) |
F696S |
unknown |
Het |
| Foxa3 |
G |
T |
7: 19,015,015 (GRCm38) |
Y102* |
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,365,966 (GRCm38) |
M301T |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,197,120 (GRCm38) |
Q54* |
probably null |
Het |
| Glra1 |
T |
C |
11: 55,532,382 (GRCm38) |
E117G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,691,031 (GRCm38) |
D234V |
probably damaging |
Het |
| Gulp1 |
T |
C |
1: 44,773,281 (GRCm38) |
I137T |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,160,350 (GRCm38) |
V816A |
possibly damaging |
Het |
| Kdm4c |
G |
A |
4: 74,315,649 (GRCm38) |
|
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,874,108 (GRCm38) |
|
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,733,877 (GRCm38) |
N378S |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,312,794 (GRCm38) |
R146W |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,674,300 (GRCm38) |
L363P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,282,645 (GRCm38) |
Y745* |
probably null |
Het |
| Nav3 |
A |
C |
10: 109,883,678 (GRCm38) |
N141K |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,343,011 (GRCm38) |
N779S |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,393,268 (GRCm38) |
Y414* |
probably null |
Het |
| Nf1 |
T |
G |
11: 79,445,789 (GRCm38) |
C1065G |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,359,767 (GRCm38) |
V216A |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,702,381 (GRCm38) |
N354I |
possibly damaging |
Het |
| Nyap1 |
C |
T |
5: 137,735,464 (GRCm38) |
V436I |
probably benign |
Het |
| Olfr1029 |
A |
G |
2: 85,975,453 (GRCm38) |
D70G |
possibly damaging |
Het |
| Olfr498 |
T |
C |
7: 108,466,262 (GRCm38) |
F313L |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,505,980 (GRCm38) |
M570K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,991,470 (GRCm38) |
S856G |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,068,116 (GRCm38) |
E368G |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,447,158 (GRCm38) |
V323M |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,549,505 (GRCm38) |
Y920C |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,614,776 (GRCm38) |
D229V |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,304,417 (GRCm38) |
K483R |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,857,956 (GRCm38) |
R351H |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,685,829 (GRCm38) |
T370I |
possibly damaging |
Het |
| Smpd5 |
T |
C |
15: 76,294,557 (GRCm38) |
S42P |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,123,026 (GRCm38) |
|
probably null |
Het |
| Sox10 |
G |
A |
15: 79,156,302 (GRCm38) |
S185L |
probably benign |
Het |
| Srpk1 |
T |
C |
17: 28,602,759 (GRCm38) |
Y227C |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,233,916 (GRCm38) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,626,591 (GRCm38) |
R698G |
possibly damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,711,430 (GRCm38) |
T167S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,615,863 (GRCm38) |
S865P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,207,746 (GRCm38) |
L1537P |
probably damaging |
Het |
| Vstm2a |
C |
A |
11: 16,263,125 (GRCm38) |
T170K |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,693,967 (GRCm38) |
F304I |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,780,970 (GRCm38) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,582,983 (GRCm38) |
K103* |
probably null |
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 |
|
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 |
|
| Posted On |
2016-10-06 |
Incidental Mutation