Incidental Mutation 'R9121:D5Ertd579e'
| ID |
692771 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R9121 (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 T
at 36772778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 539
(I539N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031091
AA Change: I539N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: I539N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,820,078 (GRCm39) |
N720K |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 103,005,998 (GRCm39) |
Q603* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,906,326 (GRCm39) |
T231M |
possibly damaging |
Het |
| Atp2b4 |
TCT |
TCTGCT |
1: 133,629,463 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
C |
T |
4: 122,761,516 (GRCm39) |
R122Q |
probably damaging |
Het |
| Cdh10 |
G |
A |
15: 19,011,074 (GRCm39) |
V586M |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,389,331 (GRCm39) |
V303E |
possibly damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,563,158 (GRCm39) |
C707* |
probably null |
Het |
| Crtc3 |
A |
G |
7: 80,242,323 (GRCm39) |
F497L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,774 (GRCm39) |
Y949C |
|
Het |
| Dctpp1 |
T |
C |
7: 126,856,456 (GRCm39) |
R89G |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,704,650 (GRCm39) |
V2221E |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,816,896 (GRCm39) |
L3628I |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,738 (GRCm39) |
F50S |
unknown |
Het |
| Edrf1 |
CGG |
CG |
7: 133,258,770 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,487 (GRCm39) |
S999A |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,738,153 (GRCm39) |
C16S |
possibly damaging |
Het |
| Fbxw19 |
G |
A |
9: 109,324,890 (GRCm39) |
P9L |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,907,114 (GRCm39) |
Y327N |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,525,195 (GRCm39) |
L637P |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Ighv1-56 |
T |
A |
12: 115,206,634 (GRCm39) |
T47S |
probably benign |
Het |
| Iglc2 |
A |
C |
16: 19,017,294 (GRCm39) |
C103G |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,148,102 (GRCm39) |
T771A |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,861,019 (GRCm39) |
R893L |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,948 (GRCm39) |
V19E |
|
Het |
| Mier2 |
G |
A |
10: 79,377,594 (GRCm39) |
A453V |
|
Het |
| Mlf1 |
T |
C |
3: 67,307,054 (GRCm39) |
S255P |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,636 (GRCm39) |
D78G |
possibly damaging |
Het |
| Or5w14 |
T |
A |
2: 87,541,975 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,536,462 (GRCm39) |
K1340E |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,091,010 (GRCm39) |
D589G |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,156 (GRCm39) |
V278A |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,347,272 (GRCm39) |
H1184L |
unknown |
Het |
| Rnaset2a |
A |
G |
17: 8,347,549 (GRCm39) |
F250S |
possibly damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,356 (GRCm39) |
Y32C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,254,786 (GRCm39) |
S611P |
probably benign |
Het |
| Slco1a1 |
C |
A |
6: 141,892,542 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,040,599 (GRCm39) |
D225V |
probably damaging |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,740,674 (GRCm39) |
L257Q |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,312,423 (GRCm39) |
N1101K |
probably benign |
Het |
| Unc79 |
C |
T |
12: 102,968,095 (GRCm39) |
T107M |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,631,523 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,756,946 (GRCm39) |
Y1150* |
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 |
|
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 |
|
|
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 |
|
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'- ATCGTGCTGTCCAAGATAGG -3'
(R):5'- ATATTGACCTCGCTGGGACC -3'
Sequencing Primer
(F):5'- GAGAGTCTCCTCCAAAACTCTCTC -3'
(R):5'- GACCTCGCTGGGACCTCATTATG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation