Incidental Mutation 'R2080:D5Ertd579e'
ID |
229411 |
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 |
040085-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R2080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36773550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 282
(T282S)
|
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: T282S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: T282S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140063
|
SMART Domains |
Protein: ENSMUSP00000118804 Gene: ENSMUSG00000029190
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
77 |
1e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201187
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,007,962 (GRCm39) |
R123Q |
possibly damaging |
Het |
D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
Ednrb |
A |
T |
14: 104,080,536 (GRCm39) |
I126N |
probably damaging |
Het |
Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
Gm1527 |
T |
A |
3: 28,980,810 (GRCm39) |
C637S |
probably benign |
Het |
H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
Ktn1 |
A |
G |
14: 47,963,417 (GRCm39) |
E1164G |
probably damaging |
Het |
L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
Nup98 |
T |
C |
7: 101,829,631 (GRCm39) |
N393S |
probably damaging |
Het |
Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
probably 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 |
|
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 |
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'- ACAATGCTTCAGTGAATGCCTG -3'
(R):5'- GGAACAAGTCCAAACCCTGTTC -3'
Sequencing Primer
(F):5'- AGTGAATGCCTGTTTTGCCC -3'
(R):5'- GGATACATCTTCTCCAAAGGACTG -3'
|
Posted On |
2014-09-17 |