Incidental Mutation 'R9569:D5Ertd579e'
| ID |
721831 |
| 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 |
068966-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R9569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36759979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1394
(T1394A)
|
| 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: T1394A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T1394A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
T |
A |
1: 60,503,763 (GRCm39) |
V356D |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,701 (GRCm39) |
V690A |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,393,138 (GRCm39) |
M553T |
possibly damaging |
Het |
| Apeh |
C |
T |
9: 107,971,609 (GRCm39) |
V13M |
unknown |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Apol7e |
C |
T |
15: 77,601,933 (GRCm39) |
T177I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,066,770 (GRCm39) |
M211T |
|
Het |
| Bub1b |
T |
C |
2: 118,468,884 (GRCm39) |
I883T |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,489,062 (GRCm39) |
S140P |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,346,485 (GRCm39) |
I64N |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,486 (GRCm39) |
I511F |
possibly damaging |
Het |
| Cic |
T |
C |
7: 24,972,120 (GRCm39) |
V617A |
possibly damaging |
Het |
| Clca3a2 |
A |
C |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
A |
T |
3: 55,387,852 (GRCm39) |
E422D |
probably benign |
Het |
| Depdc5 |
A |
T |
5: 33,025,321 (GRCm39) |
D21V |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,236,829 (GRCm39) |
F40S |
unknown |
Het |
| Duox1 |
T |
C |
2: 122,148,971 (GRCm39) |
V82A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,771,507 (GRCm39) |
V211A |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,251,316 (GRCm39) |
S326N |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,830,495 (GRCm39) |
L153R |
|
Het |
| Gpx8 |
C |
T |
13: 113,182,125 (GRCm39) |
V103I |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,948 (GRCm39) |
D268G |
probably benign |
Het |
| Hc |
T |
C |
2: 34,926,359 (GRCm39) |
I342V |
probably benign |
Het |
| Hsp90ab1 |
T |
A |
17: 45,879,878 (GRCm39) |
D546V |
possibly damaging |
Het |
| Ifi206 |
T |
G |
1: 173,314,209 (GRCm39) |
D77A |
|
Het |
| Igfbp1 |
A |
G |
11: 7,147,881 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,584,434 (GRCm39) |
D559G |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,105,246 (GRCm39) |
I565T |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,924 (GRCm39) |
T229A |
probably damaging |
Het |
| Lcmt2 |
G |
A |
2: 120,970,522 (GRCm39) |
A187V |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,217,599 (GRCm39) |
M241T |
probably benign |
Het |
| Mup15 |
T |
C |
4: 61,357,875 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,811,629 (GRCm39) |
V1912A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,821 (GRCm39) |
T472A |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,938,518 (GRCm39) |
F123S |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,191,946 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or52n2 |
C |
T |
7: 104,542,525 (GRCm39) |
M103I |
possibly damaging |
Het |
| Or5h17 |
A |
G |
16: 58,820,228 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,153 (GRCm39) |
F177S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,907,065 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,303,039 (GRCm39) |
T528A |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,957,939 (GRCm39) |
A1116T |
possibly damaging |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Psd |
A |
T |
19: 46,308,717 (GRCm39) |
C639S |
possibly damaging |
Het |
| Rffl |
T |
A |
11: 82,703,264 (GRCm39) |
T220S |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,560,622 (GRCm39) |
D1284G |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,513,605 (GRCm39) |
Y385C |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,026,324 (GRCm39) |
D388V |
probably damaging |
Het |
| Slc26a1 |
G |
T |
5: 108,819,460 (GRCm39) |
Q596K |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,834,030 (GRCm39) |
T343A |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,393,262 (GRCm39) |
V179A |
|
Het |
| Sox14 |
T |
G |
9: 99,757,562 (GRCm39) |
D49A |
|
Het |
| Spata31g1 |
G |
C |
4: 42,971,740 (GRCm39) |
V358L |
probably benign |
Het |
| Timm22 |
A |
G |
11: 76,298,196 (GRCm39) |
S56G |
probably benign |
Het |
| Tmub2 |
G |
A |
11: 102,179,153 (GRCm39) |
W322* |
probably null |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,428 (GRCm39) |
T8A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,539,652 (GRCm39) |
I34445V |
probably benign |
Het |
| Tyms |
A |
T |
5: 30,268,360 (GRCm39) |
Y196* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,434,823 (GRCm39) |
T546M |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,217,143 (GRCm39) |
Y1125C |
probably damaging |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Unk |
A |
T |
11: 115,950,035 (GRCm39) |
Q747L |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,306,294 (GRCm39) |
E232G |
probably benign |
Het |
| Vps41 |
A |
G |
13: 19,013,396 (GRCm39) |
Y338C |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,215,980 (GRCm39) |
M800V |
probably benign |
Het |
| Wt1 |
T |
A |
2: 104,993,711 (GRCm39) |
I348N |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,341,242 (GRCm39) |
Y1161C |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,906,140 (GRCm39) |
M1001T |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 19,972,902 (GRCm39) |
R19W |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,615,386 (GRCm39) |
T476A |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,964,573 (GRCm39) |
W268R |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,388,971 (GRCm39) |
F50S |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,413 (GRCm39) |
M400K |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,144,419 (GRCm39) |
M150V |
probably benign |
Het |
| Znfx1 |
T |
A |
2: 166,897,875 (GRCm39) |
I350F |
|
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 |
|
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 |
|
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'- AATCTTCAACAGGACAGCCG -3'
(R):5'- TCATCTGTCTATGAATAGGATCAGC -3'
Sequencing Primer
(F):5'- GTCCTCAACGCTAAAATAAGCAAG -3'
(R):5'- AAATTGTTTCTTGAATTGTAGGTGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation