Incidental Mutation 'R8673:D5Ertd579e'
ID |
661251 |
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 |
068528-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R8673 (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 G
at 36830151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 58
(S58P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
[ENSMUST00000140653]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031091
AA Change: S58P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: S58P
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: ENSMUST00000140653
AA Change: S58P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144240 Gene: ENSMUSG00000029190 AA Change: S58P
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
81 |
2.4e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
Anxa9 |
C |
T |
3: 95,207,657 (GRCm39) |
R250Q |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,831,530 (GRCm39) |
S1195P |
probably damaging |
Het |
Baiap2l1 |
T |
A |
5: 144,212,852 (GRCm39) |
|
probably benign |
Het |
Bpifb6 |
G |
T |
2: 153,747,212 (GRCm39) |
C172F |
probably damaging |
Het |
Ccdc9 |
A |
T |
7: 16,018,286 (GRCm39) |
D7E |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,844,846 (GRCm39) |
I580F |
probably damaging |
Het |
Chchd6 |
T |
A |
6: 89,546,380 (GRCm39) |
S109C |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,648,201 (GRCm39) |
|
probably benign |
Het |
Col4a6 |
G |
A |
X: 140,017,173 (GRCm39) |
P60L |
probably damaging |
Het |
Cxxc1 |
C |
T |
18: 74,351,915 (GRCm39) |
T264I |
probably benign |
Het |
Dlgap1 |
T |
A |
17: 71,122,293 (GRCm39) |
H907Q |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,405,523 (GRCm39) |
M663K |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,160,867 (GRCm39) |
M1791I |
probably damaging |
Het |
Esd |
T |
C |
14: 74,969,952 (GRCm39) |
F8S |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,302,300 (GRCm39) |
Y273H |
probably damaging |
Het |
Fry |
C |
A |
5: 150,318,576 (GRCm39) |
H935Q |
possibly damaging |
Het |
Gabrr3 |
T |
G |
16: 59,235,633 (GRCm39) |
M45R |
possibly damaging |
Het |
Gata4 |
T |
C |
14: 63,478,258 (GRCm39) |
T114A |
probably benign |
Het |
Gcnt4 |
G |
A |
13: 97,082,997 (GRCm39) |
D98N |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igkv1-99 |
C |
T |
6: 68,519,387 (GRCm39) |
Q115* |
probably null |
Het |
Irak3 |
G |
T |
10: 119,982,493 (GRCm39) |
T323K |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,302,804 (GRCm39) |
D2975G |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,126,142 (GRCm39) |
W319R |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,869,343 (GRCm39) |
D206G |
probably damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,114,658 (GRCm39) |
D8V |
probably benign |
Het |
Or4c105 |
T |
C |
2: 88,647,590 (GRCm39) |
V25A |
probably benign |
Het |
Or5b114-ps1 |
T |
C |
19: 13,352,581 (GRCm39) |
I85T |
probably benign |
Het |
Pex1 |
A |
C |
5: 3,685,886 (GRCm39) |
D1209A |
possibly damaging |
Het |
Phf10 |
T |
C |
17: 15,170,868 (GRCm39) |
D355G |
probably benign |
Het |
Psmd2 |
T |
C |
16: 20,475,638 (GRCm39) |
S413P |
probably damaging |
Het |
Ptgir |
G |
T |
7: 16,641,287 (GRCm39) |
C193F |
probably damaging |
Het |
Rad21l |
A |
G |
2: 151,502,718 (GRCm39) |
I164T |
possibly damaging |
Het |
Ralgapb |
G |
A |
2: 158,292,133 (GRCm39) |
R773H |
probably damaging |
Het |
Rasgef1b |
G |
T |
5: 99,370,844 (GRCm39) |
N385K |
probably damaging |
Het |
Shank3 |
C |
T |
15: 89,433,979 (GRCm39) |
R1575C |
probably damaging |
Het |
Slc7a2 |
G |
T |
8: 41,365,446 (GRCm39) |
|
probably benign |
Het |
Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,253,561 (GRCm39) |
H1396R |
probably benign |
Het |
Spire2 |
A |
G |
8: 124,086,867 (GRCm39) |
E446G |
probably damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,558,918 (GRCm39) |
C351* |
probably null |
Het |
Thoc5 |
G |
A |
11: 4,876,061 (GRCm39) |
V605I |
possibly damaging |
Het |
Ttll2 |
C |
T |
17: 7,619,340 (GRCm39) |
V196I |
possibly damaging |
Het |
Uba6 |
A |
G |
5: 86,284,178 (GRCm39) |
Y576H |
probably damaging |
Het |
Vegfb |
G |
A |
19: 6,962,812 (GRCm39) |
P188L |
unknown |
Het |
Vmn1r62 |
A |
G |
7: 5,678,277 (GRCm39) |
|
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,521,902 (GRCm39) |
T146S |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,633,584 (GRCm39) |
Y945C |
probably damaging |
Het |
Zfp870 |
C |
T |
17: 33,101,904 (GRCm39) |
C475Y |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,678,268 (GRCm39) |
T98S |
possibly damaging |
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 |
R8217:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- TTGTGAAGGACTGCCTAGATCATTA -3'
(R):5'- CATGCGCCCTGTCTGTAC -3'
Sequencing Primer
(F):5'- CCAGCCATGATGAGTCATAATCTGG -3'
(R):5'- ACAGTTGTTGTGGATGGTTTGCC -3'
|
Posted On |
2021-03-08 |