Incidental Mutation 'R8217:D5Ertd579e'
ID |
636409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D5Ertd579e
|
Ensembl Gene |
ENSMUSG00000029190 |
Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
Synonyms |
9030221A05Rik, A930018H20Rik |
MMRRC Submission |
067658-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R8217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 36771402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 998
(S998A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031091
AA Change: S998A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: S998A
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132383
|
SMART Domains |
Protein: ENSMUSP00000116548 Gene: ENSMUSG00000029190
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0947 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,037,921 (GRCm39) |
L406P |
probably damaging |
Het |
Aph1b |
T |
C |
9: 66,686,554 (GRCm39) |
K239E |
possibly damaging |
Het |
Atp13a4 |
C |
A |
16: 29,222,619 (GRCm39) |
V1102F |
|
Het |
B3gat1 |
G |
A |
9: 26,668,165 (GRCm39) |
A265T |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,988,850 (GRCm39) |
E419G |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,080,197 (GRCm39) |
L380P |
probably damaging |
Het |
Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
Cfi |
A |
C |
3: 129,648,650 (GRCm39) |
N178T |
possibly damaging |
Het |
Col5a1 |
T |
A |
2: 27,812,135 (GRCm39) |
D72E |
unknown |
Het |
Cspg4 |
T |
A |
9: 56,797,637 (GRCm39) |
V1367D |
possibly damaging |
Het |
Ehf |
T |
C |
2: 103,109,976 (GRCm39) |
E77G |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,820,937 (GRCm39) |
I662T |
probably benign |
Het |
F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Klhl8 |
A |
G |
5: 104,015,466 (GRCm39) |
V486A |
possibly damaging |
Het |
Lrrc72 |
A |
T |
12: 36,258,676 (GRCm39) |
D60E |
probably damaging |
Het |
Marchf5 |
C |
T |
19: 37,185,210 (GRCm39) |
|
probably benign |
Het |
Mtmr12 |
T |
C |
15: 12,259,726 (GRCm39) |
I365T |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nod2 |
A |
C |
8: 89,390,785 (GRCm39) |
D364A |
probably benign |
Het |
Numa1 |
T |
A |
7: 101,641,876 (GRCm39) |
M108K |
possibly damaging |
Het |
Nutm2 |
G |
T |
13: 50,623,759 (GRCm39) |
R152L |
probably benign |
Het |
Or14c43 |
A |
G |
7: 86,115,390 (GRCm39) |
Y257C |
probably damaging |
Het |
Or2t46 |
A |
T |
11: 58,471,792 (GRCm39) |
M41L |
probably benign |
Het |
Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
Pak1ip1 |
T |
A |
13: 41,166,126 (GRCm39) |
S350R |
probably benign |
Het |
Pcdha3 |
T |
C |
18: 37,079,974 (GRCm39) |
F239L |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pkm |
C |
T |
9: 59,586,092 (GRCm39) |
T524I |
possibly damaging |
Het |
Plekhg2 |
T |
A |
7: 28,067,717 (GRCm39) |
Q245L |
probably null |
Het |
Pola2 |
T |
A |
19: 6,013,855 (GRCm39) |
K26N |
possibly damaging |
Het |
Prune2 |
G |
T |
19: 17,097,480 (GRCm39) |
A995S |
probably benign |
Het |
Rap2b |
C |
A |
3: 61,272,551 (GRCm39) |
T25K |
possibly damaging |
Het |
Scrib |
A |
G |
15: 75,939,004 (GRCm39) |
S165P |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 142,197,713 (GRCm39) |
H2122L |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,834,599 (GRCm39) |
F200I |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,782,964 (GRCm39) |
V226A |
possibly damaging |
Het |
Sik1 |
T |
A |
17: 32,070,286 (GRCm39) |
H141L |
probably damaging |
Het |
Slc9a5 |
A |
T |
8: 106,089,956 (GRCm39) |
E638V |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,221,202 (GRCm39) |
C15R |
probably benign |
Het |
Slit1 |
C |
T |
19: 41,612,959 (GRCm39) |
D854N |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tec |
A |
T |
5: 72,921,602 (GRCm39) |
M372K |
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,745,373 (GRCm39) |
F237L |
probably benign |
Het |
Trio |
A |
T |
15: 27,819,055 (GRCm39) |
L1597Q |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,957,247 (GRCm39) |
M723K |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,783,694 (GRCm39) |
I592T |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,463,986 (GRCm39) |
E768G |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,047,295 (GRCm39) |
|
probably null |
Het |
|
Other mutations in D5Ertd579e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:D5Ertd579e
|
APN |
5 |
36,776,098 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01925:D5Ertd579e
|
APN |
5 |
36,771,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01933:D5Ertd579e
|
APN |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,772,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02399:D5Ertd579e
|
APN |
5 |
36,773,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:D5Ertd579e
|
APN |
5 |
36,771,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03141:D5Ertd579e
|
APN |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03235:D5Ertd579e
|
APN |
5 |
36,776,172 (GRCm39) |
splice site |
probably benign |
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,773,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:D5Ertd579e
|
UTSW |
5 |
36,761,911 (GRCm39) |
missense |
probably benign |
0.12 |
R0830:D5Ertd579e
|
UTSW |
5 |
36,771,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R0926:D5Ertd579e
|
UTSW |
5 |
36,830,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:D5Ertd579e
|
UTSW |
5 |
36,771,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:D5Ertd579e
|
UTSW |
5 |
36,760,083 (GRCm39) |
missense |
probably benign |
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1676:D5Ertd579e
|
UTSW |
5 |
36,773,453 (GRCm39) |
missense |
probably benign |
0.01 |
R1693:D5Ertd579e
|
UTSW |
5 |
36,771,441 (GRCm39) |
missense |
probably damaging |
0.98 |
R1698:D5Ertd579e
|
UTSW |
5 |
36,761,874 (GRCm39) |
missense |
probably benign |
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,773,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R1909:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.21 |
R2034:D5Ertd579e
|
UTSW |
5 |
36,770,882 (GRCm39) |
nonsense |
probably null |
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,773,550 (GRCm39) |
missense |
probably benign |
0.01 |
R2105:D5Ertd579e
|
UTSW |
5 |
36,770,793 (GRCm39) |
missense |
probably benign |
0.12 |
R2197:D5Ertd579e
|
UTSW |
5 |
36,772,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4212:D5Ertd579e
|
UTSW |
5 |
36,771,823 (GRCm39) |
missense |
probably damaging |
0.99 |
R4452:D5Ertd579e
|
UTSW |
5 |
36,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:D5Ertd579e
|
UTSW |
5 |
36,771,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4804:D5Ertd579e
|
UTSW |
5 |
36,786,996 (GRCm39) |
splice site |
probably null |
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,772,285 (GRCm39) |
missense |
probably damaging |
0.99 |
R4917:D5Ertd579e
|
UTSW |
5 |
36,773,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:D5Ertd579e
|
UTSW |
5 |
36,773,571 (GRCm39) |
nonsense |
probably null |
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,830,249 (GRCm39) |
missense |
probably benign |
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,760,047 (GRCm39) |
missense |
probably benign |
0.18 |
R5474:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5476:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5477:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:D5Ertd579e
|
UTSW |
5 |
36,761,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R6019:D5Ertd579e
|
UTSW |
5 |
36,787,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6184:D5Ertd579e
|
UTSW |
5 |
36,787,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R6213:D5Ertd579e
|
UTSW |
5 |
36,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R6244:D5Ertd579e
|
UTSW |
5 |
36,772,620 (GRCm39) |
missense |
probably damaging |
0.98 |
R6276:D5Ertd579e
|
UTSW |
5 |
36,761,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6285:D5Ertd579e
|
UTSW |
5 |
36,772,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:D5Ertd579e
|
UTSW |
5 |
36,773,580 (GRCm39) |
splice site |
probably null |
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,762,001 (GRCm39) |
splice site |
probably null |
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,771,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:D5Ertd579e
|
UTSW |
5 |
36,773,739 (GRCm39) |
missense |
probably benign |
0.21 |
R7464:D5Ertd579e
|
UTSW |
5 |
36,771,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R7664:D5Ertd579e
|
UTSW |
5 |
36,771,961 (GRCm39) |
missense |
probably benign |
0.00 |
R7762:D5Ertd579e
|
UTSW |
5 |
36,770,725 (GRCm39) |
missense |
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,772,517 (GRCm39) |
missense |
probably benign |
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R8233:D5Ertd579e
|
UTSW |
5 |
36,772,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R8281:D5Ertd579e
|
UTSW |
5 |
36,770,664 (GRCm39) |
missense |
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,771,621 (GRCm39) |
nonsense |
probably null |
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,830,151 (GRCm39) |
missense |
probably benign |
0.03 |
R8771:D5Ertd579e
|
UTSW |
5 |
36,761,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:D5Ertd579e
|
UTSW |
5 |
36,787,024 (GRCm39) |
missense |
probably damaging |
0.99 |
R9106:D5Ertd579e
|
UTSW |
5 |
36,773,682 (GRCm39) |
missense |
probably benign |
0.39 |
R9121:D5Ertd579e
|
UTSW |
5 |
36,772,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R9413:D5Ertd579e
|
UTSW |
5 |
36,772,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:D5Ertd579e
|
UTSW |
5 |
36,759,979 (GRCm39) |
missense |
probably damaging |
0.97 |
R9715:D5Ertd579e
|
UTSW |
5 |
36,787,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9723:D5Ertd579e
|
UTSW |
5 |
36,772,284 (GRCm39) |
missense |
probably damaging |
0.99 |
RF022:D5Ertd579e
|
UTSW |
5 |
36,772,006 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:D5Ertd579e
|
UTSW |
5 |
36,771,302 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:D5Ertd579e
|
UTSW |
5 |
36,773,106 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:D5Ertd579e
|
UTSW |
5 |
36,772,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGGCTAAAAGATGCAATCCC -3'
(R):5'- TGGAGAGCTCAAAACATTCAACAG -3'
Sequencing Primer
(F):5'- GGCTAAAAGATGCAATCCCTTCTGG -3'
(R):5'- GCTCAAAACATTCAACAGTGATGG -3'
|
Posted On |
2020-07-13 |